Canonical Allele Identifier: CA2123444295
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428652G= , CM000676.2:g.23428652G= GRCh38
NC_000014.8:g.23897861G= , CM000676.1:g.23897861G= GRCh37
NC_000014.7:g.22967701G= NCBI36
NG_007884.1:g.12010C= , LRG_384:g.12010C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1426C= MANE Select ENSP00000347507.3:p.Leu476=
ENST00000355349.3:c.1426C= ENSP00000347507.3:p.Leu476=
NM_000257.3:c.1426C= NP_000248.2:p.Leu476=
XR_245686.3:n.1532C=
XM_017021340.1:c.1426C= XP_016876829.1:p.Leu476=
NM_000257.4:c.1426C= MANE Select NP_000248.2:p.Leu476=