Canonical Allele Identifier: CA2209073487
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935689C= , CM000678.2:g.13935689C= GRCh38
NC_000016.9:g.14029546C= , CM000678.1:g.14029546C= GRCh37
NC_000016.8:g.13937047C= NCBI36
NG_011442.1:g.20533C= , LRG_463:g.20533C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1835C=
ENST00000682617.1:c.1895C= ENSP00000507912.1:p.Thr632=
ENST00000682826.1:c.*1071C= ENSP00000507274.1:n.*1071C=
ENST00000682909.1:n.3797C=
ENST00000683277.1:n.3402C=
ENST00000683407.1:n.1765C=
ENST00000683962.1:c.*1451C= ENSP00000506854.1:n.*1451C=
ENST00000311895.8:c.1757C= MANE Select ENSP00000310520.7:p.Thr586=
ENST00000311895.7:c.1757C= ENSP00000310520.7:p.Thr586=
ENST00000389138.7:n.1034C=
NM_005236.2:c.1757C= , LRG_463t1:c.1757C= NP_005227.1:p.Thr586=
XM_011522424.1:c.1895C= XP_011520726.1:p.Thr632=
XM_011522425.1:c.1214C= XP_011520727.1:p.Thr405=
XM_011522426.1:c.968C= XP_011520728.1:p.Thr323=
XM_011522427.1:c.407C= XP_011520729.1:p.Thr136=
XR_932805.1:n.1916C=
XM_011522424.3:c.1895C= XP_011520726.1:p.Thr632=
XM_017023043.2:c.968C= XP_016878532.1:p.Thr323=
NM_005236.3:c.1757C= MANE Select NP_005227.1:p.Thr586=