Canonical Allele Identifier: CA16619851
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 423978
dbSNP Id: rs1064796729

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425769T>A , CM000676.2:g.23425769T>A GRCh38
NC_000014.8:g.23894978T>A , CM000676.1:g.23894978T>A GRCh37
NC_000014.7:g.22964818T>A NCBI36
NG_007884.1:g.14893A>T , LRG_384:g.14893A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2212A>T MANE Select ENSP00000347507.3:p.Ser738Cys
ENST00000355349.3:c.2212A>T ENSP00000347507.3:p.Ser738Cys
NM_000257.3:c.2212A>T NP_000248.2:p.Ser738Cys
XR_245686.3:n.2318A>T
XM_017021340.1:c.2212A>T XP_016876829.1:p.Ser738Cys
NM_000257.4:c.2212A>T MANE Select NP_000248.2:p.Ser738Cys