Canonical Allele Identifier: CA015620
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177664
dbSNP Id: rs727504267

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23432504T>C , CM000676.2:g.23432504T>C GRCh38
NC_000014.8:g.23901713T>C , CM000676.1:g.23901713T>C GRCh37
NC_000014.7:g.22971553T>C NCBI36
NG_007884.1:g.8158A>G , LRG_384:g.8158A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.505A>G MANE Select ENSP00000347507.3:p.Arg169Gly
ENST00000355349.3:c.505A>G ENSP00000347507.3:p.Arg169Gly
NM_000257.3:c.505A>G NP_000248.2:p.Arg169Gly
XR_245686.3:n.611A>G
XM_017021340.1:c.505A>G XP_016876829.1:p.Arg169Gly
NM_000257.4:c.505A>G MANE Select NP_000248.2:p.Arg169Gly