Canonical Allele Identifier: CA049044
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2713036
ClinVar RCV Id: RCV003586861
dbSNP Id: rs775551367

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431463G>A , CM000676.2:g.23431463G>A GRCh38
NC_000014.8:g.23900672G>A , CM000676.1:g.23900672G>A GRCh37
NC_000014.7:g.22970512G>A NCBI36
NG_007884.1:g.9199C>T , LRG_384:g.9199C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.751C>T MANE Select ENSP00000347507.3:p.His251Tyr
ENST00000355349.3:c.751C>T ENSP00000347507.3:p.His251Tyr
NM_000257.3:c.751C>T NP_000248.2:p.His251Tyr
XR_245686.3:n.857C>T
XM_017021340.1:c.751C>T XP_016876829.1:p.His251Tyr
NM_000257.4:c.751C>T MANE Select NP_000248.2:p.His251Tyr