Canonical Allele Identifier: CA2123456489
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434000A= , CM000676.2:g.23434000A= GRCh38
NC_000014.8:g.23903209A= , CM000676.1:g.23903209A= GRCh37
NC_000014.7:g.22973049A= NCBI36
NG_007884.1:g.6662T= , LRG_384:g.6662T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+194T= MANE Select ENSP00000347507.3:n.-9+194T=
ENST00000355349.3:c.-9+194T= ENSP00000347507.3:n.-9+194T=
NM_000257.3:c.-9+194T= NP_000248.2:n.-9+194T=
XR_245686.3:n.98+194T=
XM_017021340.1:c.-8-260T= XP_016876829.1:n.-8-260T=
NM_000257.4:c.-9+194T= MANE Select NP_000248.2:n.-9+194T=