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Gene

COL4A5

collagen type IV alpha 5 chain

Summary

Cytogenetic location
Xq22.3
Coordinates
Chromosome X: 108,439,838–108,697,545 (GRCh38)
Exons
53 exons across 257.7 kb
Protein
1,691 amino acids
Previous symbols
ASLN, ATS
MANE Select transcript
ENST00000328300.11NM_033380.3
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 report relevant to this gene

  • Alport Syndrome

    • A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.

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

      ACE inhibitors (ramipril, first-line, ideally before proteinuria); ARBs if ACEi-intolerant; kidney transplantation for ESRD; hearing aids; annual ophthalmological and audiological monitoring

How COL4A5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where COL4A5 sits. COL4A5 and 5 genes near it on chromosome X, from 108,068,692 to 109,068,691.Chromosome XXq22.3p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28108.2 Mb108.4 Mb108.6 Mb108.8 Mb109 MbVSIG1: 108,044,968–108,079,184, forward strandVSIG1PSMD10: 108,084,202–108,091,637, reverse strandPSMD10ATG4A: 108,091,666–108,155,969, forward strandATG4ACOL4A6: 108,155,297–108,439,497, reverse strandCOL4A6COL4A5: 108,439,838–108,697,545, forward strandCOL4A5IRS4: 108,719,946–108,736,563, reverse strandIRS4Diagram of COL4A5: 53 exons on the forward strand of chromosome XExon 1: 7 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 10: 12 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 13: 10 known disease-causing sitesExon 14: 10 known disease-causing sitesExon 15: 10 known disease-causing sitesExon 16: 7 known disease-causing sitesExon 17: 10 known disease-causing sitesExon 18: 7 known disease-causing sitesExon 19: 18 known disease-causing sitesExon 20: 19 known disease-causing sitesExon 21: 11 known disease-causing sitesExon 22: 7 known disease-causing sitesExon 23: 6 known disease-causing sitesExon 24: 22 known disease-causing sitesExon 25: 26 known disease-causing sitesExon 26: 13 known disease-causing sitesExon 27: 13 known disease-causing sitesExon 28: 17 known disease-causing sitesExon 29: 18 known disease-causing sitesExon 30: 19 known disease-causing sitesExon 31: 20 known disease-causing sitesExon 32: 13 known disease-causing sitesExon 33: 20 known disease-causing sitesExon 34: 13 known disease-causing sitesExon 35: 15 known disease-causing sitesExon 36: 18 known disease-causing sitesExon 37: 16 known disease-causing sitesExon 38: 15 known disease-causing sitesExon 39: 14 known disease-causing sitesExon 40: 7 known disease-causing sitesExon 41: 28 known disease-causing sitesExon 42: 1 known disease-causing siteExon 43: 1 known disease-causing siteExon 44: 16 known disease-causing sitesExon 45: 7 known disease-causing sitesExon 46: 9 known disease-causing sitesExon 47: 14 known disease-causing sitesExon 48: 10 known disease-causing sitesExon 49: 26 known disease-causing sitesExon 50: 15 known disease-causing sitesExon 51: 16 known disease-causing sitesExon 52: 16 known disease-causing sitesExon 53: 4 known disease-causing sitesExon 1: 108,439,838–108,440,206, 369 basesExon 2: 108,539,746–108,539,805, 60 basesExon 3: 108,559,064–108,559,153, 90 basesExon 4: 108,563,882–108,563,926, 45 basesExon 5: 108,568,629–108,568,673, 45 basesExon 6: 108,568,759–108,568,821, 63 basesExon 7: 108,571,413–108,571,466, 54 basesExon 8: 108,571,811–108,571,837, 27 basesExon 9: 108,573,574–108,573,654, 81 basesExon 10: 108,575,910–108,575,972, 63 basesExon 11: 108,577,952–108,577,987, 36 basesExon 12: 108,578,078–108,578,119, 42 basesExon 13: 108,578,291–108,578,383, 93 basesExon 14: 108,580,533–108,580,586, 54 basesExon 15: 108,580,682–108,580,738, 57 basesExon 16: 108,580,983–108,581,027, 45 basesExon 17: 108,582,884–108,582,937, 54 basesExon 18: 108,584,484–108,584,525, 42 basesExon 19: 108,586,615–108,586,747, 133 basesExon 20: 108,591,058–108,591,231, 174 basesExon 21: 108,591,561–108,591,644, 84 basesExon 22: 108,595,509–108,595,601, 93 basesExon 23: 108,596,998–108,597,068, 71 basesExon 24: 108,597,377–108,597,568, 192 basesExon 25: 108,598,702–108,598,870, 169 basesExon 26: 108,601,393–108,601,485, 93 basesExon 27: 108,601,885–108,601,989, 105 basesExon 28: 108,602,964–108,603,061, 98 basesExon 29: 108,606,742–108,606,892, 151 basesExon 30: 108,614,911–108,615,024, 114 basesExon 31: 108,620,259–108,620,426, 168 basesExon 32: 108,621,803–108,621,892, 90 basesExon 33: 108,622,676–108,622,825, 150 basesExon 34: 108,624,236–108,624,334, 99 basesExon 35: 108,625,705–108,625,794, 90 basesExon 36: 108,626,210–108,626,349, 140 basesExon 37: 108,655,331–108,655,457, 127 basesExon 38: 108,665,507–108,665,587, 81 basesExon 39: 108,666,496–108,666,594, 99 basesExon 40: 108,667,133–108,667,183, 51 basesExon 41: 108,668,319–108,668,504, 186 basesExon 42: 108,670,228–108,670,236, 9 basesExon 43: 108,674,745–108,674,753, 9 basesExon 44: 108,677,500–108,677,633, 134 basesExon 45: 108,680,679–108,680,751, 73 basesExon 46: 108,680,885–108,680,956, 72 basesExon 47: 108,681,760–108,681,888, 129 basesExon 48: 108,686,031–108,686,129, 99 basesExon 49: 108,687,482–108,687,694, 213 basesExon 50: 108,692,748–108,692,925, 178 basesExon 51: 108,694,807–108,694,921, 115 basesExon 52: 108,695,267–108,695,439, 173 basesExon 53: 108,696,297–108,697,545, 1,249 bases12040535′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 6.5 kb of the gene's 257.7 kb; 5,076 of those bases code for the protein.

How a genome test reads COL4A5

758

positions in COL4A5 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 257.7 kb of COL4A5, introns included, not only the 6.5 kb of exons.

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.). COL4A5 gene: collagen type IV alpha 5 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col4a5

Vancouver

Dante Labs. COL4A5 gene: collagen type IV alpha 5 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col4a5

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