Canonical Allele Identifier: CA389046438
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1031478
ClinVar RCV Id: RCV001333313
dbSNP Id: rs1892575677

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423695C>A , CM000676.2:g.23423695C>A GRCh38
NC_000014.8:g.23892904C>A , CM000676.1:g.23892904C>A GRCh37
NC_000014.7:g.22962744C>A NCBI36
NG_007884.1:g.16967G>T , LRG_384:g.16967G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2951G>T MANE Select ENSP00000347507.3:p.Gly984Val
ENST00000355349.3:c.2951G>T ENSP00000347507.3:p.Gly984Val
NM_000257.3:c.2951G>T NP_000248.2:p.Gly984Val
XR_245686.3:n.3057G>T
XM_017021340.1:c.2951G>T XP_016876829.1:p.Gly984Val
NM_000257.4:c.2951G>T MANE Select NP_000248.2:p.Gly984Val