Canonical Allele Identifier: CA389041721
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419268T>C , CM000676.2:g.23419268T>C GRCh38
NC_000014.8:g.23888477T>C , CM000676.1:g.23888477T>C GRCh37
NC_000014.7:g.22958317T>C NCBI36
NG_007884.1:g.21394A>G , LRG_384:g.21394A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3881A>G MANE Select ENSP00000347507.3:p.Lys1294Arg
ENST00000355349.3:c.3881A>G ENSP00000347507.3:p.Lys1294Arg
NM_000257.3:c.3881A>G NP_000248.2:p.Lys1294Arg
XM_017021340.1:c.3881A>G XP_016876829.1:p.Lys1294Arg
NM_000257.4:c.3881A>G MANE Select NP_000248.2:p.Lys1294Arg