Canonical Allele Identifier: CA2209073474
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935680C= , CM000678.2:g.13935680C= GRCh38
NC_000016.9:g.14029537C= , CM000678.1:g.14029537C= GRCh37
NC_000016.8:g.13937038C= NCBI36
NG_011442.1:g.20524C= , LRG_463:g.20524C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1826C=
ENST00000682617.1:c.1886C= ENSP00000507912.1:p.Ala629=
ENST00000682826.1:c.*1062C= ENSP00000507274.1:n.*1062C=
ENST00000682909.1:n.3788C=
ENST00000683277.1:n.3393C=
ENST00000683407.1:n.1756C=
ENST00000683962.1:c.*1442C= ENSP00000506854.1:n.*1442C=
ENST00000311895.8:c.1748C= MANE Select ENSP00000310520.7:p.Ala583=
ENST00000311895.7:c.1748C= ENSP00000310520.7:p.Ala583=
ENST00000389138.7:n.1025C=
NM_005236.2:c.1748C= , LRG_463t1:c.1748C= NP_005227.1:p.Ala583=
XM_011522424.1:c.1886C= XP_011520726.1:p.Ala629=
XM_011522425.1:c.1205C= XP_011520727.1:p.Ala402=
XM_011522426.1:c.959C= XP_011520728.1:p.Ala320=
XM_011522427.1:c.398C= XP_011520729.1:p.Ala133=
XR_932805.1:n.1907C=
XM_011522424.3:c.1886C= XP_011520726.1:p.Ala629=
XM_017023043.2:c.959C= XP_016878532.1:p.Ala320=
NM_005236.3:c.1748C= MANE Select NP_005227.1:p.Ala583=