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Gene

COL4A3

collagen type IV alpha 3 chain

Summary

Cytogenetic location
2q36.3
Coordinates
Chromosome 2: 227,164,624–227,314,792 (GRCh38)
Exons
52 exons across 150.2 kb
Protein
1,670 amino acids
MANE Select transcript
ENST00000396578.8NM_000091.5
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
      • 7 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 COL4A3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where COL4A3 sits. COL4A3 and 15 genes near it on chromosome 2, from 226,739,708 to 227,739,707.Chromosome 22q36.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3226.8 Mb227 Mb227.2 Mb227.4 Mb227.6 MbIRS1: 226,731,312–226,799,850, reverse strandIRS1RHBDD1: 226,835,581–227,001,006, forward strandRHBDD1COL4A4: 227,002,713–227,164,559, reverse strandCOL4A4COL4A3: 227,164,624–227,314,792, forward strandCOL4A3MFF: 227,325,151–227,361,188, forward strandMFFTM4SF20: 227,362,038–227,381,995, reverse strandTM4SF20SCYGR1: 227,387,683–227,387,949, reverse strandSCYGR1AGFG1: 227,472,134–227,561,411, forward strandAGFG1SCYGR2: 227,598,893–227,599,255, forward strandSCYGR2SCYGR10: 227,608,784–227,609,101, forward strandSCYGR10SCYGR3: 227,614,538–227,614,840, reverse strandSCYGR3SCYGR4: 227,617,498–227,617,815, forward strandSCYGR4SCYGR5: 227,666,804–227,667,061, forward strandSCYGR5SLC19A3: 227,683,763–227,718,088, reverse strandSLC19A3SCYGR6: 227,724,440–227,724,757, reverse strandSCYGR6SCYGR7: 227,728,335–227,728,625, forward strandSCYGR7Diagram of COL4A3: 52 exons on the forward strand of chromosome 2Exon 1: 6 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 3: 18 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 6: 11 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 10: 12 known disease-causing sitesExon 11: 6 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 13: 13 known disease-causing sitesExon 14: 8 known disease-causing sitesExon 15: 7 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 17: 11 known disease-causing sitesExon 18: 8 known disease-causing sitesExon 19: 12 known disease-causing sitesExon 20: 8 known disease-causing sitesExon 21: 23 known disease-causing sitesExon 22: 15 known disease-causing sitesExon 23: 9 known disease-causing sitesExon 24: 10 known disease-causing sitesExon 25: 25 known disease-causing sitesExon 26: 33 known disease-causing sitesExon 27: 12 known disease-causing sitesExon 28: 11 known disease-causing sitesExon 29: 19 known disease-causing sitesExon 30: 16 known disease-causing sitesExon 31: 14 known disease-causing sitesExon 32: 30 known disease-causing sitesExon 33: 13 known disease-causing sitesExon 34: 14 known disease-causing sitesExon 35: 15 known disease-causing sitesExon 36: 15 known disease-causing sitesExon 37: 17 known disease-causing sitesExon 38: 25 known disease-causing sitesExon 39: 15 known disease-causing sitesExon 40: 11 known disease-causing sitesExon 41: 8 known disease-causing sitesExon 42: 29 known disease-causing sitesExon 43: 10 known disease-causing sitesExon 44: 10 known disease-causing sitesExon 45: 11 known disease-causing sitesExon 46: 11 known disease-causing sitesExon 47: 10 known disease-causing sitesExon 48: 22 known disease-causing sitesExon 49: 15 known disease-causing sitesExon 50: 12 known disease-causing sitesExon 51: 17 known disease-causing sitesExon 52: 5 known disease-causing sitesExon 1: 227,164,624–227,164,813, 190 basesExon 2: 227,237,968–227,238,024, 57 basesExon 3: 227,240,143–227,240,232, 90 basesExon 4: 227,244,320–227,244,364, 45 basesExon 5: 227,244,951–227,244,995, 45 basesExon 6: 227,245,954–227,246,016, 63 basesExon 7: 227,246,685–227,246,738, 54 basesExon 8: 227,247,558–227,247,584, 27 basesExon 9: 227,248,443–227,248,520, 78 basesExon 10: 227,251,140–227,251,202, 63 basesExon 11: 227,251,336–227,251,371, 36 basesExon 12: 227,253,296–227,253,337, 42 basesExon 13: 227,253,561–227,253,638, 78 basesExon 14: 227,254,112–227,254,174, 63 basesExon 15: 227,254,656–227,254,715, 60 basesExon 16: 227,256,026–227,256,070, 45 basesExon 17: 227,256,343–227,256,396, 54 basesExon 18: 227,257,603–227,257,644, 42 basesExon 19: 227,259,793–227,259,877, 85 basesExon 20: 227,261,082–227,261,117, 36 basesExon 21: 227,263,780–227,263,944, 165 basesExon 22: 227,266,417–227,266,509, 93 basesExon 23: 227,266,993–227,267,088, 96 basesExon 24: 227,269,910–227,269,980, 71 basesExon 25: 227,270,770–227,270,952, 183 basesExon 26: 227,272,949–227,273,117, 169 basesExon 27: 227,276,385–227,276,477, 93 basesExon 28: 227,277,449–227,277,553, 105 basesExon 29: 227,279,793–227,279,890, 98 basesExon 30: 227,280,440–227,280,590, 151 basesExon 31: 227,280,893–227,281,006, 114 basesExon 32: 227,282,365–227,282,532, 168 basesExon 33: 227,283,767–227,283,856, 90 basesExon 34: 227,284,211–227,284,345, 135 basesExon 35: 227,289,150–227,289,248, 99 basesExon 36: 227,289,999–227,290,088, 90 basesExon 37: 227,290,747–227,290,886, 140 basesExon 38: 227,293,191–227,293,317, 127 basesExon 39: 227,294,490–227,294,570, 81 basesExon 40: 227,294,964–227,295,062, 99 basesExon 41: 227,295,269–227,295,316, 48 basesExon 42: 227,297,674–227,297,859, 186 basesExon 43: 227,298,682–227,298,812, 131 basesExon 44: 227,303,038–227,303,110, 73 basesExon 45: 227,303,859–227,303,930, 72 basesExon 46: 227,304,019–227,304,144, 126 basesExon 47: 227,304,985–227,305,083, 99 basesExon 48: 227,307,710–227,307,919, 210 basesExon 49: 227,308,899–227,309,076, 178 basesExon 50: 227,309,204–227,309,318, 115 basesExon 51: 227,310,776–227,310,948, 173 basesExon 52: 227,311,786–227,314,792, 3,007 bases15101520253035404550525′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 8 kb of the gene's 150.2 kb; 5,013 of those bases code for the protein.

How a genome test reads COL4A3

760

positions in COL4A3 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 150.2 kb of COL4A3, introns included, not only the 8 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.). COL4A3 gene: collagen type IV alpha 3 chain. Retrieved 16 October 2026, from https://dantelabs.com/genes/col4a3

Vancouver

Dante Labs. COL4A3 gene: collagen type IV alpha 3 chain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/col4a3

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