Canonical Allele Identifier: CA2123458050
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425651G= , CM000676.2:g.23425651G= GRCh38
NC_000014.8:g.23894860G= , CM000676.1:g.23894860G= GRCh37
NC_000014.7:g.22964700G= NCBI36
NG_007884.1:g.15011C= , LRG_384:g.15011C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2286+44C= MANE Select ENSP00000347507.3:n.2286+44C=
ENST00000355349.3:c.2286+44C= ENSP00000347507.3:n.2286+44C=
NM_000257.3:c.2286+44C= NP_000248.2:n.2286+44C=
XR_245686.3:n.2392+44C=
XM_017021340.1:c.2286+44C= XP_016876829.1:n.2286+44C=
NM_000257.4:c.2286+44C= MANE Select NP_000248.2:n.2286+44C=