Canonical Allele Identifier: CA389051956
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1415025206

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430969T>C , CM000676.2:g.23430969T>C GRCh38
NC_000014.8:g.23900178T>C , CM000676.1:g.23900178T>C GRCh37
NC_000014.7:g.22970018T>C NCBI36
NG_007884.1:g.9693A>G , LRG_384:g.9693A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.827A>G MANE Select ENSP00000347507.3:p.Gln276Arg
ENST00000355349.3:c.827A>G ENSP00000347507.3:p.Gln276Arg
NM_000257.3:c.827A>G NP_000248.2:p.Gln276Arg
XR_245686.3:n.933A>G
XM_017021340.1:c.827A>G XP_016876829.1:p.Gln276Arg
NM_000257.4:c.827A>G MANE Select NP_000248.2:p.Gln276Arg