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Gene

COCH

cochlin

Summary

Cytogenetic location
14q12
Coordinates
Chromosome 14: 30,874,559–30,890,618 (GRCh38)
Exons
12 exons across 16.1 kb
Protein
550 amino acids
Inheritance
Autosomal dominant
Also known as
COCH-5B2
Previous symbols
DFNA31, DFNA9
MANE Select transcript
ENST00000396618.9NM_004086.3
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

  • Hearing Loss and Deafness

    • Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant

      Autosomal dominant form of nonsyndromic deafness.

      • 1 GenCC submitter rates it definitive or strong
    • 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.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate 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.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How COCH 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 14, with a bracket where COCH sits. COCH and 7 genes near it on chromosome 14, from 30,382,589 to 31,382,588.Chromosome 1414q12p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3330.4 Mb30.6 Mb30.8 Mb31 Mb31.2 MbG2E3: 30,559,104–30,620,167, forward strandG2E3SCFD1: 30,622,262–30,738,338, forward strandSCFD1COCH: 30,874,559–30,890,618, forward strandCOCHSTRN3: 30,893,561–31,026,553, reverse strandSTRN3AP4S1: 31,024,922–31,130,996, forward strandAP4S1HECTD1: 31,100,115–31,208,381, reverse strandHECTD1HEATR5A: 31,290,636–31,420,607, reverse strandHEATR5A: 31,334,312–31,457,441, reverse strandDiagram of COCH: 12 exons on the forward strand of chromosome 14Exon 4: 4 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 8: 1 known disease-causing siteExon 11: 6 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 1: 30,874,559–30,874,591, 33 basesExon 2: 30,874,916–30,874,972, 57 basesExon 3: 30,875,056–30,875,103, 48 basesExon 4: 30,877,572–30,877,728, 157 bases. 1 variant with a page in exon 4. List themExon 5: 30,878,811–30,878,944, 134 bases. 5 variants with a page in exon 5. List themExon 6: 30,879,423–30,879,485, 63 basesExon 7: 30,880,452–30,880,496, 45 basesExon 8: 30,880,587–30,880,734, 148 basesExon 9: 30,884,553–30,884,656, 104 basesExon 10: 30,885,394–30,885,620, 227 basesExon 11: 30,885,796–30,886,312, 517 basesExon 12: 30,889,616–30,890,618, 1,003 bases1246810125′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 2.5 kb of the gene's 16.1 kb; 1,653 of those bases code for the protein.

How a genome test reads COCH

22

positions in COCH 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 16.1 kb of COCH, introns included, not only the 2.5 kb of exons.

Variants with a page (6)

The COCH 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
G87Ac.260G>CExon 530,878,831Likely pathogenic3 stars out of 4 reviewed by expert panel
G87Ec.260G>AExon 530,878,831Likely pathogenic3 stars out of 4 reviewed by expert panel
G87Vc.260G>TExon 530,878,831Likely pathogenic3 stars out of 4 reviewed by expert panel
G87Wc.259G>TExon 530,878,830Likely pathogenic3 stars out of 4 reviewed by expert panel
G88Ec.263G>AExon 530,878,834Pathogenic3 stars out of 4 reviewed by expert panel
P51Sc.151C>TExon 430,877,640Pathogenic3 stars out of 4 reviewed by expert panel

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.). COCH gene: cochlin. Retrieved 16 October 2026, from https://dantelabs.com/genes/coch

Vancouver

Dante Labs. COCH gene: cochlin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/coch

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