Canonical Allele Identifier: CA407243080
Community Standard Title: NM_133460.3(ZNF418):c.574T>C (p.Cys192Arg)
Gene: ZNF418 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57927607A>G , CM000681.2:g.57927607A>G GRCh38
NC_000019.9:g.58438975A>G , CM000681.1:g.58438975A>G GRCh37
NC_000019.8:g.63130787A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_133460.3:c.574T>C MANE Select NP_597717.1:p.Cys192Arg
ENST00000396147.6:c.574T>C MANE Select ENSP00000379451.1:p.Cys192Arg
NM_001317027.1:c.637T>C NP_001303956.1:p.Cys213Arg
NM_001317027.2:c.637T>C NP_001303956.1:p.Cys213Arg
NM_001317028.1:c.577T>C NP_001303957.1:p.Cys193Arg
NM_001317028.2:c.577T>C NP_001303957.1:p.Cys193Arg
NM_001317029.1:c.574T>C NP_001303958.1:p.Cys192Arg
NM_001317029.2:c.574T>C NP_001303958.1:p.Cys192Arg
NM_001317030.1:c.319T>C NP_001303959.1:p.Cys107Arg
NM_001317030.2:c.319T>C NP_001303959.1:p.Cys107Arg
NM_133460.1:c.574T>C NP_597717.1:p.Cys192Arg
NM_133460.2:c.574T>C NP_597717.1:p.Cys192Arg
ENST00000396147.5:c.574T>C ENSP00000379451.1:p.Cys192Arg
ENST00000425570.7:c.637T>C ENSP00000407039.2:p.Cys213Arg
ENST00000595830.5:c.574T>C ENSP00000471652.1:p.Cys192Arg
ENST00000598213.5:n.128-4978T>C
ENST00000599852.1:c.319T>C ENSP00000468968.1:p.Cys107Arg
ENST00000600989.5:c.204+370T>C ENSP00000470127.1:n.204+370T>C
ENST00000616958.1:c.574T>C ENSP00000483763.1:p.Cys192Arg
XM_011526471.1:c.637T>C XP_011524773.1:p.Cys213Arg
XM_017026304.2:c.637T>C XP_016881793.1:p.Cys213Arg
XM_017026305.2:c.637T>C XP_016881794.1:p.Cys213Arg
XM_017026306.2:c.634T>C XP_016881795.1:p.Cys212Arg
XM_017026308.2:c.604T>C XP_016881797.1:p.Cys202Arg
XM_017026309.1:c.577T>C XP_016881798.1:p.Cys193Arg
XM_017026310.1:c.577T>C XP_016881799.1:p.Cys193Arg
XM_017026311.1:c.577T>C XP_016881800.1:p.Cys193Arg
XM_017026312.1:c.574T>C XP_016881801.1:p.Cys192Arg
XM_017026313.1:c.574T>C XP_016881802.1:p.Cys192Arg
XM_017026314.2:c.475T>C XP_016881803.1:p.Cys159Arg