Canonical Allele Identifier: CA2123450968
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422308C= , CM000676.2:g.23422308C= GRCh38
NC_000014.8:g.23891517C= , CM000676.1:g.23891517C= GRCh37
NC_000014.7:g.22961357C= NCBI36
NG_007884.1:g.18354G= , LRG_384:g.18354G=

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3117G= MANE Select ENSP00000347507.3:p.Glu1039=
ENST00000355349.3:c.3117G= ENSP00000347507.3:p.Glu1039=
NM_000257.3:c.3117G= NP_000248.2:p.Glu1039=
XR_245686.3:n.3223G=
XM_017021340.1:c.3117G= XP_016876829.1:p.Glu1039=
NM_000257.4:c.3117G= MANE Select NP_000248.2:p.Glu1039=