Canonical Allele Identifier: CA2123458040
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425643A= , CM000676.2:g.23425643A= GRCh38
NC_000014.8:g.23894852A= , CM000676.1:g.23894852A= GRCh37
NC_000014.7:g.22964692A= NCBI36
NG_007884.1:g.15019T= , LRG_384:g.15019T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2286+52T= MANE Select ENSP00000347507.3:n.2286+52T=
ENST00000355349.3:c.2286+52T= ENSP00000347507.3:n.2286+52T=
NM_000257.3:c.2286+52T= NP_000248.2:n.2286+52T=
XR_245686.3:n.2392+52T=
XM_017021340.1:c.2286+52T= XP_016876829.1:n.2286+52T=
NM_000257.4:c.2286+52T= MANE Select NP_000248.2:n.2286+52T=