Canonical Allele Identifier: CA279312
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 217473
ClinVar RCV Id: RCV000201493
dbSNP Id: rs863225102

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425414A>T , CM000676.2:g.23425414A>T GRCh38
NC_000014.8:g.23894623A>T , CM000676.1:g.23894623A>T GRCh37
NC_000014.7:g.22964463A>T NCBI36
NG_007884.1:g.15248T>A , LRG_384:g.15248T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2291T>A MANE Select ENSP00000347507.3:p.Phe764Tyr
ENST00000355349.3:c.2291T>A ENSP00000347507.3:p.Phe764Tyr
NM_000257.3:c.2291T>A NP_000248.2:p.Phe764Tyr
XR_245686.3:n.2397T>A
XM_017021340.1:c.2291T>A XP_016876829.1:p.Phe764Tyr
NM_000257.4:c.2291T>A MANE Select NP_000248.2:p.Phe764Tyr