Canonical Allele Identifier: CA389042781
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419591A>G , CM000676.2:g.23419591A>G GRCh38
NC_000014.8:g.23888800A>G , CM000676.1:g.23888800A>G GRCh37
NC_000014.7:g.22958640A>G NCBI36
NG_007884.1:g.21071T>C , LRG_384:g.21071T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3745T>C MANE Select ENSP00000347507.3:p.Cys1249Arg
ENST00000355349.3:c.3745T>C ENSP00000347507.3:p.Cys1249Arg
NM_000257.3:c.3745T>C NP_000248.2:p.Cys1249Arg
XM_017021340.1:c.3745T>C XP_016876829.1:p.Cys1249Arg
NM_000257.4:c.3745T>C MANE Select NP_000248.2:p.Cys1249Arg