Canonical Allele Identifier: CA389051926
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 524957
dbSNP Id: rs730880856

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430954C>T , CM000676.2:g.23430954C>T GRCh38
NC_000014.8:g.23900163C>T , CM000676.1:g.23900163C>T GRCh37
NC_000014.7:g.22970003C>T NCBI36
NG_007884.1:g.9708G>A , LRG_384:g.9708G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.842G>A MANE Select ENSP00000347507.3:p.Arg281Lys
ENST00000355349.3:c.842G>A ENSP00000347507.3:p.Arg281Lys
NM_000257.3:c.842G>A NP_000248.2:p.Arg281Lys
XR_245686.3:n.948G>A
XM_017021340.1:c.842G>A XP_016876829.1:p.Arg281Lys
NM_000257.4:c.842G>A MANE Select NP_000248.2:p.Arg281Lys