Canonical Allele Identifier: CA257826921
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1979840
ClinVar RCV Id: RCV002756167
dbSNP Id: rs1016438334

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433645G>T , CM000676.2:g.23433645G>T GRCh38
NC_000014.8:g.23902854G>T , CM000676.1:g.23902854G>T GRCh37
NC_000014.7:g.22972694G>T NCBI36
NG_007884.1:g.7017C>A , LRG_384:g.7017C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.88C>A MANE Select ENSP00000347507.3:p.Pro30Thr
ENST00000355349.3:c.88C>A ENSP00000347507.3:p.Pro30Thr
NM_000257.3:c.88C>A NP_000248.2:p.Pro30Thr
XR_245686.3:n.194C>A
XM_017021340.1:c.88C>A XP_016876829.1:p.Pro30Thr
NM_000257.4:c.88C>A MANE Select NP_000248.2:p.Pro30Thr