Canonical Allele Identifier: CA389052338
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1316454
ClinVar RCV Id: RCV001767944
dbSNP Id: rs1892948213

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431670A>C , CM000676.2:g.23431670A>C GRCh38
NC_000014.8:g.23900879A>C , CM000676.1:g.23900879A>C GRCh37
NC_000014.7:g.22970719A>C NCBI36
NG_007884.1:g.8992T>G , LRG_384:g.8992T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.647T>G MANE Select ENSP00000347507.3:p.Leu216Arg
ENST00000355349.3:c.647T>G ENSP00000347507.3:p.Leu216Arg
NM_000257.3:c.647T>G NP_000248.2:p.Leu216Arg
XR_245686.3:n.753T>G
XM_017021340.1:c.647T>G XP_016876829.1:p.Leu216Arg
NM_000257.4:c.647T>G MANE Select NP_000248.2:p.Leu216Arg