Canonical Allele Identifier: CA2209073541
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935719C= , CM000678.2:g.13935719C= GRCh38
NC_000016.9:g.14029576C= , CM000678.1:g.14029576C= GRCh37
NC_000016.8:g.13937077C= NCBI36
NG_011442.1:g.20563C= , LRG_463:g.20563C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1865C=
ENST00000682617.1:c.1925C= ENSP00000507912.1:p.Ala642=
ENST00000682826.1:c.*1101C= ENSP00000507274.1:n.*1101C=
ENST00000682909.1:n.3827C=
ENST00000683277.1:n.3432C=
ENST00000683407.1:n.1795C=
ENST00000683962.1:c.*1481C= ENSP00000506854.1:n.*1481C=
ENST00000311895.8:c.1787C= MANE Select ENSP00000310520.7:p.Ala596=
ENST00000311895.7:c.1787C= ENSP00000310520.7:p.Ala596=
ENST00000389138.7:n.1064C=
NM_005236.2:c.1787C= , LRG_463t1:c.1787C= NP_005227.1:p.Ala596=
XM_011522424.1:c.1925C= XP_011520726.1:p.Ala642=
XM_011522425.1:c.1244C= XP_011520727.1:p.Ala415=
XM_011522426.1:c.998C= XP_011520728.1:p.Ala333=
XM_011522427.1:c.437C= XP_011520729.1:p.Ala146=
XR_932805.1:n.1946C=
XM_011522424.3:c.1925C= XP_011520726.1:p.Ala642=
XM_017023043.2:c.998C= XP_016878532.1:p.Ala333=
NM_005236.3:c.1787C= MANE Select NP_005227.1:p.Ala596=