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Gene

MYH6

myosin heavy chain 6

Summary

Cytogenetic location
14q11.2
Coordinates
Chromosome 14: 23,381,987–23,408,273 (GRCh38)
Exons
39 exons across 26.3 kb
Protein
1,939 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000405093.9NM_002471.4
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 reports relevant to this gene

  • Inherited Congenital Heart Defects

    • MYH6-Related Congenital Heart DefectsAutosomal dominant

      Heart defects caused by changes in MYH6, such as atrial septal defect, tetralogy of Fallot or hypoplastic left heart.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
    • Atrial Septal Defect

      A hole between the upper chambers of the heart; inherited forms are caused by genes such as NKX2-5, GATA4, TBX20, MYH6 and ACTC1, and NKX2-5 forms also carry a risk of progressive heart block.

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

      Knowing about it supports heart imaging and, for NKX2-5, regular ECG checks.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

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

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

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 MYH6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where MYH6 sits. MYH6 and 31 genes near it on chromosome 14, from 22,895,130 to 23,895,129.Chromosome 1414q11.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3323 Mb23.2 Mb23.4 Mb23.6 Mb23.8 MbRBM23: 22,893,204–22,919,182, reverse strandRBM23PRMT5: 22,920,108–22,929,458, reverse strandPRMT5HAUS4: 22,946,228–22,957,161, reverse strandHAUS4: 22,946,270–22,982,258, reverse strandAJUBA: 22,971,177–22,982,647, reverse strandAJUBAC14orf93: 22,985,894–23,010,529, reverse strandC14orf93PSMB5: 23,016,540–23,035,239, reverse strandPSMB5PSMB11: 23,042,212–23,044,060, forward strandPSMB11CDH24: 23,047,062–23,057,668, reverse strandCDH24ACIN1: 23,058,561–23,095,614, reverse strandACIN1C14orf119: 23,094,692–23,100,456, forward strandC14orf119CIROP: 23,099,062–23,105,018, reverse strandCIROPCEBPE: 23,117,036–23,120,256, reverse strandCEBPESLC7A8: 23,125,295–23,183,683, reverse strandSLC7A8RNF212B: 23,185,316–23,273,477, forward strandRNF212BHOMEZ: 23,258,697–23,299,796, reverse strandHOMEZPPP1R3E: 23,295,652–23,302,950, reverse strandPPP1R3EBCL2L2: 23,298,790–23,313,069, forward strandBCL2L2BCL2L2-PABPN1: 23,306,833–23,326,175, forward strandPABPN1: 23,321,447–23,326,176, forward strandSLC22A17: 23,346,314–23,352,912, reverse strandEFS: 23,353,248–23,366,287, reverse strandEFSIL25: 23,372,809–23,376,403, forward strandIL25CMTM5: 23,376,627–23,379,772, forward strandCMTM5MYH6: 23,381,987–23,408,273, reverse strandMYH6MYH7: 23,412,732–23,436,137, reverse strandMYH7NGDN: 23,469,464–23,510,024, forward strandNGDNZFHX2: 23,520,851–23,556,192, reverse strandZFHX2THTPA: 23,555,988–23,560,778, forward strandTHTPAAP1G2: 23,559,555–23,569,507, reverse strandAP1G2JPH4: 23,568,035–23,578,856, reverse strandJPH4DHRS2: 23,630,115–23,645,639, forward strandDHRS2Diagram of MYH6: 39 exons on the reverse strand of chromosome 14Exon 29: 1 known disease-causing siteExon 24: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 39: 23,381,987–23,382,063, 77 basesExon 38: 23,382,428–23,382,562, 135 basesExon 37: 23,383,225–23,383,320, 96 basesExon 36: 23,384,442–23,384,717, 276 basesExon 35: 23,384,916–23,385,041, 126 basesExon 34: 23,385,928–23,386,131, 204 basesExon 33: 23,386,315–23,386,623, 309 basesExon 32: 23,387,529–23,387,653, 125 basesExon 31: 23,387,758–23,387,923, 166 basesExon 30: 23,388,155–23,388,338, 184 basesExon 29: 23,388,859–23,389,055, 197 basesExon 28: 23,389,393–23,389,511, 119 basesExon 27: 23,389,593–23,389,719, 127 basesExon 26: 23,390,057–23,390,446, 390 basesExon 25: 23,392,562–23,392,652, 91 basesExon 24: 23,392,912–23,393,057, 146 basesExon 23: 23,393,342–23,393,518, 177 basesExon 22: 23,393,666–23,393,908, 243 basesExon 21: 23,394,068–23,394,323, 256 basesExon 20: 23,396,284–23,396,420, 137 basesExon 19: 23,396,694–23,396,817, 124 basesExon 18: 23,396,963–23,397,080, 118 basesExon 17: 23,397,170–23,397,257, 88 basesExon 16: 23,397,543–23,397,613, 71 basesExon 15: 23,398,728–23,399,037, 310 basesExon 14: 23,400,256–23,400,426, 171 basesExon 13: 23,400,709–23,400,977, 269 basesExon 12: 23,402,464–23,402,602, 139 basesExon 11: 23,402,697–23,402,800, 104 basesExon 10: 23,403,348–23,403,446, 99 basesExon 9: 23,403,715–23,403,778, 64 basesExon 8: 23,404,296–23,404,388, 93 basesExon 7: 23,404,711–23,404,822, 112 basesExon 6: 23,405,100–23,405,127, 28 basesExon 5: 23,405,223–23,405,379, 157 basesExon 4: 23,405,627–23,405,770, 144 basesExon 3: 23,407,023–23,407,236, 214 basesExon 2: 23,407,576–23,407,608, 33 basesExon 1: 23,408,253–23,408,273, 21 bases39353025201510515′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 5.9 kb of the gene's 26.3 kb; 5,820 of those bases code for the protein.

How a genome test reads MYH6

7

positions in MYH6 where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (29%) fall in regions short reads find hard.

  • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 26.3 kb of MYH6, introns included, not only the 5.9 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.). MYH6 gene: myosin heavy chain 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/myh6

Vancouver

Dante Labs. MYH6 gene: myosin heavy chain 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/myh6

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