Canonical Allele Identifier: CA016513
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177692
dbSNP Id: rs727504283

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431804G>A , CM000676.2:g.23431804G>A GRCh38
NC_000014.8:g.23901013G>A , CM000676.1:g.23901013G>A GRCh37
NC_000014.7:g.22970853G>A NCBI36
NG_007884.1:g.8858C>T , LRG_384:g.8858C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.596C>T MANE Select ENSP00000347507.3:p.Ala199Val
ENST00000355349.3:c.596C>T ENSP00000347507.3:p.Ala199Val
NM_000257.3:c.596C>T NP_000248.2:p.Ala199Val
XR_245686.3:n.702C>T
XM_017021340.1:c.596C>T XP_016876829.1:p.Ala199Val
NM_000257.4:c.596C>T MANE Select NP_000248.2:p.Ala199Val