Canonical Allele Identifier: CA389042778
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2574026
ClinVar RCV Id: RCV003318455

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419590C>T , CM000676.2:g.23419590C>T GRCh38
NC_000014.8:g.23888799C>T , CM000676.1:g.23888799C>T GRCh37
NC_000014.7:g.22958639C>T NCBI36
NG_007884.1:g.21072G>A , LRG_384:g.21072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3746G>A MANE Select ENSP00000347507.3:p.Cys1249Tyr
ENST00000355349.3:c.3746G>A ENSP00000347507.3:p.Cys1249Tyr
NM_000257.3:c.3746G>A NP_000248.2:p.Cys1249Tyr
XM_017021340.1:c.3746G>A XP_016876829.1:p.Cys1249Tyr
NM_000257.4:c.3746G>A MANE Select NP_000248.2:p.Cys1249Tyr