Canonical Allele Identifier: CA2123456523
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434030G= , CM000676.2:g.23434030G= GRCh38
NC_000014.8:g.23903239G= , CM000676.1:g.23903239G= GRCh37
NC_000014.7:g.22973079G= NCBI36
NG_007884.1:g.6632C= , LRG_384:g.6632C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+164C= MANE Select ENSP00000347507.3:n.-9+164C=
ENST00000355349.3:c.-9+164C= ENSP00000347507.3:n.-9+164C=
NM_000257.3:c.-9+164C= NP_000248.2:n.-9+164C=
XR_245686.3:n.98+164C=
XM_017021340.1:c.-8-290C= XP_016876829.1:n.-8-290C=
NM_000257.4:c.-9+164C= MANE Select NP_000248.2:n.-9+164C=