Canonical Allele Identifier: CA10583175
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 237445
dbSNP Id: rs878853843

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433653T>C , CM000676.2:g.23433653T>C GRCh38
NC_000014.8:g.23902862T>C , CM000676.1:g.23902862T>C GRCh37
NC_000014.7:g.22972702T>C NCBI36
NG_007884.1:g.7009A>G , LRG_384:g.7009A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.80A>G MANE Select ENSP00000347507.3:p.Gln27Arg
ENST00000355349.3:c.80A>G ENSP00000347507.3:p.Gln27Arg
NM_000257.3:c.80A>G NP_000248.2:p.Gln27Arg
XR_245686.3:n.186A>G
XM_017021340.1:c.80A>G XP_016876829.1:p.Gln27Arg
NM_000257.4:c.80A>G MANE Select NP_000248.2:p.Gln27Arg