Canonical Allele Identifier: CA389052582
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1407519
ClinVar RCV Id: RCV001918485
dbSNP Id: rs2138682480

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431858C>T , CM000676.2:g.23431858C>T GRCh38
NC_000014.8:g.23901067C>T , CM000676.1:g.23901067C>T GRCh37
NC_000014.7:g.22970907C>T NCBI36
NG_007884.1:g.8804G>A , LRG_384:g.8804G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.542G>A MANE Select ENSP00000347507.3:p.Gly181Glu
ENST00000355349.3:c.542G>A ENSP00000347507.3:p.Gly181Glu
NM_000257.3:c.542G>A NP_000248.2:p.Gly181Glu
XR_245686.3:n.648G>A
XM_017021340.1:c.542G>A XP_016876829.1:p.Gly181Glu
NM_000257.4:c.542G>A MANE Select NP_000248.2:p.Gly181Glu