Canonical Allele Identifier: CA015944
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177629
dbSNP Id: rs369437262

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415228T>C , CM000676.2:g.23415228T>C GRCh38
NC_000014.8:g.23884437T>C , CM000676.1:g.23884437T>C GRCh37
NC_000014.7:g.22954277T>C NCBI36
NG_007884.1:g.25434A>G , LRG_384:g.25434A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5326A>G MANE Select ENSP00000347507.3:p.Ser1776Gly
ENST00000355349.3:c.5326A>G ENSP00000347507.3:p.Ser1776Gly
NM_000257.3:c.5326A>G NP_000248.2:p.Ser1776Gly
XM_017021340.1:c.5326A>G XP_016876829.1:p.Ser1776Gly
NM_000257.4:c.5326A>G MANE Select NP_000248.2:p.Ser1776Gly