Canonical Allele Identifier: CA389043982
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2830802
ClinVar RCV Id: RCV003749924

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420162A>C , CM000676.2:g.23420162A>C GRCh38
NC_000014.8:g.23889371A>C , CM000676.1:g.23889371A>C GRCh37
NC_000014.7:g.22959211A>C NCBI36
NG_007884.1:g.20500T>G , LRG_384:g.20500T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3409T>G MANE Select ENSP00000347507.3:p.Ser1137Ala
ENST00000355349.3:c.3409T>G ENSP00000347507.3:p.Ser1137Ala
NM_000257.3:c.3409T>G NP_000248.2:p.Ser1137Ala
XR_245686.3:n.3517T>G
XM_017021340.1:c.3409T>G XP_016876829.1:p.Ser1137Ala
NM_000257.4:c.3409T>G MANE Select NP_000248.2:p.Ser1137Ala