Gene

MYH11

myosin heavy chain 11

Cytogenetic location: 16p13.11
Coordinates: Chromosome 16: 15,703,135–15,857,028 (GRCh38)
Exons: 41 exons across 153.9 kb
Protein: 1,972 amino acids
Inheritance: Autosomal dominant
Also known as: SMMHC, SMHC, SMMS-1
MANE Select transcript: ENST00000300036.6NM_002474.3
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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Curated reports relevant to this gene

Aortic Aneurysm
- Familial Thoracic Aortic Aneurysm and DissectionAutosomal dominant
  Inherited widening and tearing of the thoracic aorta, caused by changes in genes such as ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 and THSD4.
  - ClinGen rates the link definitive
  - 3 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Knowing about it supports regular aortic imaging, blood pressure control and timely preventive surgery, and screening of relatives.
Hereditary Visceral Myopathy, CIPO & MMIHS
- Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)
  A severe newborn condition with a greatly enlarged bladder, a small colon and poor bowel movement, caused by variants in smooth-muscle genes such as ACTG2, MYH11, MYLK, MYL9 and LMOD1.
  - 1 GenCC submitter rates it definitive or strong
  What knowing changes
  Early diagnosis supports planning for nutritional support, bladder drainage and, in some cases, transplant.

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 MYH11 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard
Variants with a page

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 6.9 kb of the gene's 153.9 kb; 5,919 of those bases code for the protein.

How a genome test reads MYH11

positions in MYH11 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (1.4%) falls in a region short reads find hard.

Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 153.9 kb of MYH11, introns included, not only the 6.9 kb of exons.

Variants with a page (5)

The MYH11 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
c.1033+1G>A		Intron 9	15,771,568	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.4578+1G>A		Intron 32	15,721,421	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.5787-4707del		Intron 40	15,708,829	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
G357Qfs*14	c.1069_1082del	Exon 10	15,763,842	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
R712Q	c.2135G>A	Exon 17	15,748,092	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

Traits linked to MYH11

The Human Phenotype Ontology lists these as features of the rare conditions MYH11 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the cardiovascular system

Show 26 more traits

Abnormality of the digestive system

Show 19 more traits

Abnormality of the genitourinary system

Abnormality of the respiratory system

Abnormality of the eye

Abnormality of the musculoskeletal system

Abnormality of blood and blood-forming tissues

Abnormality of head or neck

Abnormality of limbs

Abnormality of prenatal development or birth

Abnormality of the immune system

External links

Gene records

Transcript

Protein

Variants

Clinical

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.). MYH11 gene: myosin heavy chain 11. Retrieved 17 October 2026, from https://dantelabs.com/genes/myh11

Vancouver

Dante Labs. MYH11 gene: myosin heavy chain 11 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/myh11

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