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Gene

ABCA4

ATP binding cassette subfamily A member 4

Summary

Cytogenetic location
1p22.1
Coordinates
Chromosome 1: 93,992,834–94,121,148 (GRCh38)
Exons
50 exons across 128.3 kb
Protein
2,273 amino acids
Inheritance
Autosomal recessive
Also known as
FFM, ARMD2, CORD3
Previous symbols
STGD1, ABCR, RP19, STGD
MANE Select transcript
ENST00000370225.4NM_000350.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Stargardt Disease

    • ABCA4-Related RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in both copies of ABCA4, the most common cause of Stargardt disease, also causing cone-rod dystrophy.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

    • An inherited macular dystrophy, most often ABCA4-related, with lipofuscin accumulation and progressive central vision loss.

      • 3 GenCC submitters rate it definitive or strong

Broader groupings

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ABCA4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 1, with a bracket where ABCA4 sits. ABCA4 and 6 genes near it on chromosome 1, from 93,556,991 to 94,556,990.Chromosome 11p22.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4493.6 Mb93.8 Mb94 Mb94.2 Mb94.4 MbBCAR3: 93,561,178–93,847,488, reverse strandBCAR3DNTTIP2: 93,866,284–93,879,918, reverse strandDNTTIP2GCLM: 93,885,199–93,909,654, reverse strandGCLMABCA4: 93,992,834–94,121,148, reverse strandABCA4ARHGAP29: 94,148,988–94,275,068, reverse strandARHGAP29ABCD3: 94,418,039–94,519,349, forward strandABCD3F3: 94,528,263–94,541,851, reverse strandF3Diagram of ABCA4: 50 exons on the reverse strand of chromosome 1Exon 49: 1 known disease-causing siteExon 48: 17 known disease-causing sitesExon 47: 13 known disease-causing sitesExon 46: 17 known disease-causing sitesExon 45: 13 known disease-causing sitesExon 44: 20 known disease-causing sitesExon 43: 11 known disease-causing sitesExon 42: 3 known disease-causing sitesExon 41: 7 known disease-causing sitesExon 40: 12 known disease-causing sitesExon 39: 12 known disease-causing sitesExon 38: 17 known disease-causing sitesExon 37: 6 known disease-causing sitesExon 36: 14 known disease-causing sitesExon 35: 18 known disease-causing sitesExon 34: 3 known disease-causing sitesExon 33: 11 known disease-causing sitesExon 32: 2 known disease-causing sitesExon 31: 9 known disease-causing sitesExon 30: 14 known disease-causing sitesExon 29: 8 known disease-causing sitesExon 28: 13 known disease-causing sitesExon 27: 13 known disease-causing sitesExon 26: 2 known disease-causing sitesExon 25: 11 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 23: 17 known disease-causing sitesExon 22: 20 known disease-causing sitesExon 21: 15 known disease-causing sitesExon 20: 17 known disease-causing sitesExon 19: 15 known disease-causing sitesExon 18: 5 known disease-causing sitesExon 17: 5 known disease-causing sitesExon 16: 18 known disease-causing sitesExon 15: 9 known disease-causing sitesExon 14: 16 known disease-causing sitesExon 13: 25 known disease-causing sitesExon 12: 22 known disease-causing sitesExon 11: 10 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 17 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 21 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 17 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 1: 10 known disease-causing sitesExon 50: 93,992,834–93,993,242, 409 basesExon 49: 93,996,109–93,996,195, 87 basesExon 48: 93,997,861–93,998,110, 250 bases. 4 variants with a page in exon 48. List themExon 47: 94,000,836–94,000,928, 93 bases. 7 variants with a page in exon 47. List themExon 46: 94,001,002–94,001,105, 104 bases. 5 variants with a page in exon 46. List themExon 45: 94,001,858–94,001,992, 135 bases. 3 variants with a page in exon 45. List themExon 44: 94,005,441–94,005,582, 142 bases. 5 variants with a page in exon 44. List themExon 43: 94,007,634–94,007,740, 107 bases. 1 variant with a page in exon 43. List themExon 42: 94,008,235–94,008,297, 63 bases. 1 variant with a page in exon 42. List themExon 41: 94,008,751–94,008,871, 121 bases. 3 variants with a page in exon 41. List themExon 40: 94,010,800–94,010,929, 130 bases. 1 variant with a page in exon 40. List themExon 39: 94,011,262–94,011,385, 124 bases. 3 variants with a page in exon 39. List themExon 38: 94,014,543–94,014,690, 148 bases. 2 variants with a page in exon 38. List themExon 37: 94,015,739–94,015,854, 116 bases. 1 variant with a page in exon 37. List themExon 36: 94,019,582–94,019,759, 178 basesExon 35: 94,021,240–94,021,409, 170 bases. 3 variants with a page in exon 35. List themExon 34: 94,021,640–94,021,714, 75 basesExon 33: 94,021,846–94,021,951, 106 bases. 1 variant with a page in exon 33. List themExon 32: 94,023,386–94,023,418, 33 basesExon 31: 94,024,954–94,025,048, 95 bases. 4 variants with a page in exon 31. List themExon 30: 94,029,445–94,029,631, 187 bases. 5 variants with a page in exon 30. List themExon 29: 94,030,428–94,030,526, 99 basesExon 28: 94,030,996–94,031,120, 125 bases. 2 variants with a page in exon 28. List themExon 27: 94,031,778–94,032,043, 266 bases. 2 variants with a page in exon 27. List themExon 26: 94,036,740–94,036,788, 49 basesExon 25: 94,037,145–94,037,350, 206 basesExon 24: 94,040,043–94,040,127, 85 basesExon 23: 94,041,209–94,041,402, 194 bases. 4 variants with a page in exon 23. List themExon 22: 94,042,761–94,042,898, 138 bases. 4 variants with a page in exon 22. List themExon 21: 94,043,336–94,043,475, 140 bases. 2 variants with a page in exon 21. List themExon 20: 94,044,613–94,044,744, 132 bases. 1 variant with a page in exon 20. List themExon 19: 94,046,919–94,047,093, 175 bases. 4 variants with a page in exon 19. List themExon 18: 94,048,868–94,048,957, 90 basesExon 17: 94,051,633–94,051,698, 66 bases. 1 variant with a page in exon 17. List themExon 16: 94,055,111–94,055,315, 205 bases. 3 variants with a page in exon 16. List themExon 15: 94,056,601–94,056,822, 222 bases. 1 variant with a page in exon 15. List themExon 14: 94,060,537–94,060,759, 223 bases. 2 variants with a page in exon 14. List themExon 13: 94,062,577–94,062,753, 177 bases. 3 variants with a page in exon 13. List themExon 12: 94,063,112–94,063,317, 206 bases. 2 variants with a page in exon 12. List themExon 11: 94,077,690–94,077,887, 198 bases. 2 variants with a page in exon 11. List themExon 10: 94,078,590–94,078,706, 117 basesExon 9: 94,079,322–94,079,461, 140 bases. 1 variant with a page in exon 9. List themExon 8: 94,080,478–94,080,718, 241 bases. 2 variants with a page in exon 8. List themExon 7: 94,083,352–94,083,441, 90 bases. 1 variant with a page in exon 7. List themExon 6: 94,098,794–94,098,991, 198 bases. 2 variants with a page in exon 6. List themExon 5: 94,103,015–94,103,142, 128 bases. 1 variant with a page in exon 5. List themExon 4: 94,108,577–94,108,716, 140 basesExon 3: 94,111,438–94,111,579, 142 bases. 1 variant with a page in exon 3. List themExon 2: 94,112,973–94,113,066, 94 basesExon 1: 94,120,980–94,121,148, 169 bases. 4 variants with a page in exon 1. List them504540353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 7.3 kb of the gene's 128.3 kb; 6,822 of those bases code for the protein.

How a genome test reads ABCA4

664

positions in ABCA4 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 128.3 kb of ABCA4, introns included, not only the 7.3 kb of exons.

Variants with a page (107)

The ABCA4 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A960Dfs*17c.2879delExon 1994,046,957Pathogenic3 stars out of 4 reviewed by expert panel
A967Vc.2900C>TExon 1994,046,937Likely pathogenic3 stars out of 4 reviewed by expert panel
A1773Vc.5318C>TExon 3894,014,685Pathogenic3 stars out of 4 reviewed by expert panel
A1791Gfs*9c.5371dupExon 3894,014,631Pathogenic3 stars out of 4 reviewed by expert panel
c.1A>GExon 194,121,045Pathogenic3 stars out of 4 reviewed by expert panel
c.3G>TExon 194,121,043Pathogenic3 stars out of 4 reviewed by expert panel
c.1937+1G>AIntron 1394,062,576Pathogenic3 stars out of 4 reviewed by expert panel
c.3328+2T>AIntron 2294,042,759Pathogenic3 stars out of 4 reviewed by expert panel
c.3523-1G>AIntron 2394,040,128Pathogenic3 stars out of 4 reviewed by expert panel
c.4253+43G>AIntron 2894,030,953Pathogenic3 stars out of 4 reviewed by expert panel

See all 107 ABCA4 variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ABCA4 gene: ATP binding cassette subfamily A member 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/abca4

Vancouver

Dante Labs. ABCA4 gene: ATP binding cassette subfamily A member 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/abca4

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