Canonical Allele Identifier: CA016023
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14123
dbSNP Id: rs121913654

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415176A>G , CM000676.2:g.23415176A>G GRCh38
NC_000014.8:g.23884385A>G , CM000676.1:g.23884385A>G GRCh37
NC_000014.7:g.22954225A>G NCBI36
NG_007884.1:g.25486T>C , LRG_384:g.25486T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5378T>C MANE Select ENSP00000347507.3:p.Leu1793Pro
ENST00000355349.3:c.5378T>C ENSP00000347507.3:p.Leu1793Pro
NM_000257.3:c.5378T>C NP_000248.2:p.Leu1793Pro
XM_017021340.1:c.5378T>C XP_016876829.1:p.Leu1793Pro
NM_000257.4:c.5378T>C MANE Select NP_000248.2:p.Leu1793Pro