Canonical Allele Identifier: CA027761
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 227594
dbSNP Id: rs146210693

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433619G>A , CM000676.2:g.23433619G>A GRCh38
NC_000014.8:g.23902828G>A , CM000676.1:g.23902828G>A GRCh37
NC_000014.7:g.22972668G>A NCBI36
NG_007884.1:g.7043C>T , LRG_384:g.7043C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.114C>T MANE Select ENSP00000347507.3:p.Phe38=
ENST00000355349.3:c.114C>T ENSP00000347507.3:p.Phe38=
NM_000257.3:c.114C>T NP_000248.2:p.Phe38=
XR_245686.3:n.220C>T
XM_017021340.1:c.114C>T XP_016876829.1:p.Phe38=
NM_000257.4:c.114C>T MANE Select NP_000248.2:p.Phe38=