Canonical Allele Identifier: CA2123450522
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422200C= , CM000676.2:g.23422200C= GRCh38
NC_000014.8:g.23891409C= , CM000676.1:g.23891409C= GRCh37
NC_000014.7:g.22961249C= NCBI36
NG_007884.1:g.18462G= , LRG_384:g.18462G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3225G= MANE Select ENSP00000347507.3:p.Gln1075=
ENST00000355349.3:c.3225G= ENSP00000347507.3:p.Gln1075=
NM_000257.3:c.3225G= NP_000248.2:p.Gln1075=
XR_245686.3:n.3331G=
XM_017021340.1:c.3225G= XP_016876829.1:p.Gln1075=
NM_000257.4:c.3225G= MANE Select NP_000248.2:p.Gln1075=