Canonical Allele Identifier: CA015510

Linked Data

ClinVar Variation Id: 43048
dbSNP Id: rs374289523
COSMIC: COSM954743

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415812G>A , CM000676.2:g.23415812G>A GRCh38
NC_000014.8:g.23885021G>A , CM000676.1:g.23885021G>A GRCh37
NC_000014.7:g.22954861G>A NCBI36
NG_007884.1:g.24850C>T , LRG_384:g.24850C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4974C>T (MYH7) MANE Select ENSP00000347507.3:p.Asp1658=
ENST00000355349.3:c.4974C>T (MYH7) ENSP00000347507.3:p.Asp1658=
NM_000257.3:c.4974C>T (MYH7) NP_000248.2:p.Asp1658=
NR_126491.1:n.244G>A (MHRT)
XM_017021340.1:c.4974C>T (MYH7) XP_016876829.1:p.Asp1658=
NM_000257.4:c.4974C>T (MYH7) MANE Select NP_000248.2:p.Asp1658=