Canonical Allele Identifier: CA016810
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14099
dbSNP Id: rs121913633

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431447C>T , CM000676.2:g.23431447C>T GRCh38
NC_000014.8:g.23900656C>T , CM000676.1:g.23900656C>T GRCh37
NC_000014.7:g.22970496C>T NCBI36
NG_007884.1:g.9215G>A , LRG_384:g.9215G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.767G>A MANE Select ENSP00000347507.3:p.Gly256Glu
ENST00000355349.3:c.767G>A ENSP00000347507.3:p.Gly256Glu
NM_000257.3:c.767G>A NP_000248.2:p.Gly256Glu
XR_245686.3:n.873G>A
XM_017021340.1:c.767G>A XP_016876829.1:p.Gly256Glu
NM_000257.4:c.767G>A MANE Select NP_000248.2:p.Gly256Glu