Canonical Allele Identifier: CA389040516
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 915735
ClinVar RCV Id: RCV001170995
dbSNP Id: rs774351170

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417653C>A , CM000676.2:g.23417653C>A GRCh38
NC_000014.8:g.23886862C>A , CM000676.1:g.23886862C>A GRCh37
NC_000014.7:g.22956702C>A NCBI36
NG_007884.1:g.23009G>T , LRG_384:g.23009G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4203G>T MANE Select ENSP00000347507.3:p.Glu1401Asp
ENST00000355349.3:c.4203G>T ENSP00000347507.3:p.Glu1401Asp
NM_000257.3:c.4203G>T NP_000248.2:p.Glu1401Asp
XM_017021340.1:c.4203G>T XP_016876829.1:p.Glu1401Asp
NM_000257.4:c.4203G>T MANE Select NP_000248.2:p.Glu1401Asp