Canonical Allele Identifier: CA389040605
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417679G>C , CM000676.2:g.23417679G>C GRCh38
NC_000014.8:g.23886888G>C , CM000676.1:g.23886888G>C GRCh37
NC_000014.7:g.22956728G>C NCBI36
NG_007884.1:g.22983C>G , LRG_384:g.22983C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4177C>G MANE Select ENSP00000347507.3:p.Leu1393Val
ENST00000355349.3:c.4177C>G ENSP00000347507.3:p.Leu1393Val
NM_000257.3:c.4177C>G NP_000248.2:p.Leu1393Val
XM_017021340.1:c.4177C>G XP_016876829.1:p.Leu1393Val
NM_000257.4:c.4177C>G MANE Select NP_000248.2:p.Leu1393Val