Canonical Allele Identifier: CA389043558
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773921
ClinVar RCV Id: RCV003532684

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420035T>A , CM000676.2:g.23420035T>A GRCh38
NC_000014.8:g.23889244T>A , CM000676.1:g.23889244T>A GRCh37
NC_000014.7:g.22959084T>A NCBI36
NG_007884.1:g.20627A>T , LRG_384:g.20627A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3536A>T MANE Select ENSP00000347507.3:p.Glu1179Val
ENST00000355349.3:c.3536A>T ENSP00000347507.3:p.Glu1179Val
NM_000257.3:c.3536A>T NP_000248.2:p.Glu1179Val
XM_017021340.1:c.3536A>T XP_016876829.1:p.Glu1179Val
NM_000257.4:c.3536A>T MANE Select NP_000248.2:p.Glu1179Val