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Gene

COL4A6

collagen type IV alpha 6 chain

Summary

Cytogenetic location
Xq22.3
Coordinates
Chromosome X: 108,155,614–108,438,422 (GRCh38)
Exons
45 exons across 282.8 kb
Protein
1,690 amino acids
MANE Select transcript
ENST00000334504.12NM_033641.4
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

    • Hearing Loss and Deafness

      • Nonsyndromic Genetic Hearing Loss

        One of 97 genes linked to it

        Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

        • 1 GenCC submitter rates it definitive or strong
        What knowing changes

        Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

    How COL4A6 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 COL4A6 sits. COL4A6 and 7 genes near it on chromosome X, from 107,797,018 to 108,797,017.Chromosome XXq22.3p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28107.8 Mb108 Mb108.2 Mb108.4 Mb108.6 MbMID2: 107,825,730–107,931,637, forward strandMID2TEX13B: 107,980,864–107,982,370, reverse strandTEX13BVSIG1: 108,044,968–108,079,184, forward strandVSIG1PSMD10: 108,084,202–108,091,637, reverse strandPSMD10ATG4A: 108,091,666–108,155,969, forward strandATG4ACOL4A6: 108,155,614–108,438,422, reverse strandCOL4A6COL4A5: 108,439,717–108,697,766, forward strandCOL4A5IRS4: 108,719,946–108,736,563, reverse strandIRS4Diagram of COL4A6: 45 exons on the reverse strand of chromosome XExon 26: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 45: 108,155,614–108,157,260, 1,647 basesExon 44: 108,159,462–108,159,748, 287 basesExon 43: 108,160,463–108,160,654, 192 basesExon 42: 108,161,619–108,161,735, 117 basesExon 41: 108,162,892–108,163,038, 147 basesExon 40: 108,164,600–108,164,698, 99 basesExon 39: 108,164,877–108,165,038, 162 basesExon 38: 108,165,370–108,165,486, 117 basesExon 37: 108,169,495–108,169,620, 126 basesExon 36: 108,169,945–108,170,016, 72 basesExon 35: 108,170,609–108,170,716, 108 basesExon 34: 108,170,810–108,170,917, 108 basesExon 33: 108,171,387–108,171,461, 75 basesExon 32: 108,172,469–108,172,532, 64 basesExon 31: 108,174,440–108,174,621, 182 basesExon 30: 108,175,090–108,175,215, 126 basesExon 29: 108,175,654–108,175,797, 144 basesExon 28: 108,176,841–108,177,011, 171 basesExon 27: 108,178,684–108,178,845, 162 basesExon 26: 108,179,217–108,179,438, 222 basesExon 25: 108,180,515–108,180,622, 108 basesExon 24: 108,180,897–108,180,968, 72 basesExon 23: 108,187,096–108,187,279, 184 basesExon 22: 108,187,848–108,188,027, 180 basesExon 21: 108,188,517–108,188,677, 161 basesExon 20: 108,190,392–108,190,496, 105 basesExon 19: 108,191,393–108,191,533, 141 basesExon 18: 108,192,473–108,192,580, 108 basesExon 17: 108,193,628–108,193,697, 70 basesExon 16: 108,194,534–108,194,587, 54 basesExon 15: 108,195,082–108,195,126, 45 basesExon 14: 108,196,511–108,196,579, 69 basesExon 13: 108,202,928–108,202,981, 54 basesExon 12: 108,204,320–108,204,412, 93 basesExon 11: 108,205,439–108,205,480, 42 basesExon 10: 108,205,660–108,205,695, 36 basesExon 9: 108,206,518–108,206,580, 63 basesExon 8: 108,209,969–108,210,004, 36 basesExon 7: 108,211,672–108,211,740, 69 basesExon 6: 108,214,112–108,214,228, 117 basesExon 5: 108,219,698–108,219,742, 45 basesExon 4: 108,221,240–108,221,374, 135 basesExon 3: 108,310,748–108,310,828, 81 basesExon 2: 108,437,942–108,437,993, 52 basesExon 1: 108,438,186–108,438,422, 237 bases454030201015′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 6.7 kb of the gene's 282.8 kb; 5,073 of those bases code for the protein.

    How a genome test reads COL4A6

    4

    positions in COL4A6 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 282.8 kb of COL4A6, introns included, not only the 6.7 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.). COL4A6 gene: collagen type IV alpha 6 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col4a6

    Vancouver

    Dante Labs. COL4A6 gene: collagen type IV alpha 6 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col4a6

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