Canonical Allele Identifier: CA389052217
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1046133
dbSNP Id: rs397516261

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431611C>A , CM000676.2:g.23431611C>A GRCh38
NC_000014.8:g.23900820C>A , CM000676.1:g.23900820C>A GRCh37
NC_000014.7:g.22970660C>A NCBI36
NG_007884.1:g.9051G>T , LRG_384:g.9051G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.706G>T MANE Select ENSP00000347507.3:p.Val236Phe
ENST00000355349.3:c.706G>T ENSP00000347507.3:p.Val236Phe
NM_000257.3:c.706G>T NP_000248.2:p.Val236Phe
XR_245686.3:n.812G>T
XM_017021340.1:c.706G>T XP_016876829.1:p.Val236Phe
NM_000257.4:c.706G>T MANE Select NP_000248.2:p.Val236Phe