Canonical Allele Identifier: CA037712
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1001687
dbSNP Id: rs750627218

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420063C>T , CM000676.2:g.23420063C>T GRCh38
NC_000014.8:g.23889272C>T , CM000676.1:g.23889272C>T GRCh37
NC_000014.7:g.22959112C>T NCBI36
NG_007884.1:g.20599G>A , LRG_384:g.20599G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3508G>A MANE Select ENSP00000347507.3:p.Glu1170Lys
ENST00000355349.3:c.3508G>A ENSP00000347507.3:p.Glu1170Lys
NM_000257.3:c.3508G>A NP_000248.2:p.Glu1170Lys
XM_017021340.1:c.3508G>A XP_016876829.1:p.Glu1170Lys
NM_000257.4:c.3508G>A MANE Select NP_000248.2:p.Glu1170Lys