Canonical Allele Identifier: CA394819865
Community Standard Title: NM_005236.3(ERCC4):c.473G>A (p.Arg158His)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13926645G>A , CM000678.2:g.13926645G>A GRCh38
NC_000016.9:g.14020502G>A , CM000678.1:g.14020502G>A GRCh37
NC_000016.8:g.13928003G>A NCBI36
NG_011442.1:g.11489G>A , LRG_463:g.11489G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.473G>A MANE Select NP_005227.1:p.Arg158His
ENST00000311895.8:c.473G>A MANE Select ENSP00000310520.7:p.Arg158His
NM_005236.2:c.473G>A , LRG_463t1:c.473G>A NP_005227.1:p.Arg158His
ENST00000311895.7:c.473G>A ENSP00000310520.7:p.Arg158His
ENST00000574194.1:c.94G>A
ENST00000575156.5:c.473G>A ENSP00000459933.1:p.Arg158His
ENST00000576348.1:n.448G>A
ENST00000682552.1:n.461G>A
ENST00000682568.1:n.403G>A
ENST00000682617.1:c.611G>A ENSP00000507912.1:p.Arg204His
ENST00000682826.1:c.473G>A ENSP00000507274.1:p.Arg158His
ENST00000682909.1:n.2513G>A
ENST00000683277.1:n.2118G>A
ENST00000683407.1:n.481G>A
ENST00000683962.1:c.*167G>A ENSP00000506854.1:n.*167G>A
XM_011522424.1:c.611G>A XP_011520726.1:p.Arg204His
XM_011522424.3:c.611G>A XP_011520726.1:p.Arg204His
XM_011522425.1:c.-71G>A XP_011520727.1:n.-71G>A
XM_017023043.2:c.-465G>A XP_016878532.1:n.-465G>A
XR_932805.1:n.632G>A