Canonical Allele Identifier: CA389052201
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395941
ClinVar RCV Id: RCV001891512
dbSNP Id: rs2138681668

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431601T>G , CM000676.2:g.23431601T>G GRCh38
NC_000014.8:g.23900810T>G , CM000676.1:g.23900810T>G GRCh37
NC_000014.7:g.22970650T>G NCBI36
NG_007884.1:g.9061A>C , LRG_384:g.9061A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.716A>C MANE Select ENSP00000347507.3:p.Asp239Ala
ENST00000355349.3:c.716A>C ENSP00000347507.3:p.Asp239Ala
NM_000257.3:c.716A>C NP_000248.2:p.Asp239Ala
XR_245686.3:n.822A>C
XM_017021340.1:c.716A>C XP_016876829.1:p.Asp239Ala
NM_000257.4:c.716A>C MANE Select NP_000248.2:p.Asp239Ala