Canonical Allele Identifier: CA2209073466
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935676G= , CM000678.2:g.13935676G= GRCh38
NC_000016.9:g.14029533G= , CM000678.1:g.14029533G= GRCh37
NC_000016.8:g.13937034G= NCBI36
NG_011442.1:g.20520G= , LRG_463:g.20520G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1822G=
ENST00000682617.1:c.1882G= ENSP00000507912.1:p.Asp628=
ENST00000682826.1:c.*1058G= ENSP00000507274.1:n.*1058G=
ENST00000682909.1:n.3784G=
ENST00000683277.1:n.3389G=
ENST00000683407.1:n.1752G=
ENST00000683962.1:c.*1438G= ENSP00000506854.1:n.*1438G=
ENST00000311895.8:c.1744G= MANE Select ENSP00000310520.7:p.Asp582=
ENST00000311895.7:c.1744G= ENSP00000310520.7:p.Asp582=
ENST00000389138.7:n.1021G=
NM_005236.2:c.1744G= , LRG_463t1:c.1744G= NP_005227.1:p.Asp582=
XM_011522424.1:c.1882G= XP_011520726.1:p.Asp628=
XM_011522425.1:c.1201G= XP_011520727.1:p.Asp401=
XM_011522426.1:c.955G= XP_011520728.1:p.Asp319=
XM_011522427.1:c.394G= XP_011520729.1:p.Asp132=
XR_932805.1:n.1903G=
XM_011522424.3:c.1882G= XP_011520726.1:p.Asp628=
XM_017023043.2:c.955G= XP_016878532.1:p.Asp319=
NM_005236.3:c.1744G= MANE Select NP_005227.1:p.Asp582=