Canonical Allele Identifier: CA2209073238
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935551C= , CM000678.2:g.13935551C= GRCh38
NC_000016.9:g.14029408C= , CM000678.1:g.14029408C= GRCh37
NC_000016.8:g.13936909C= NCBI36
NG_011442.1:g.20395C= , LRG_463:g.20395C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1697C=
ENST00000682617.1:c.1757C= ENSP00000507912.1:p.Ser586=
ENST00000682826.1:c.*933C= ENSP00000507274.1:n.*933C=
ENST00000682909.1:n.3659C=
ENST00000683277.1:n.3264C=
ENST00000683407.1:n.1627C=
ENST00000683962.1:c.*1313C= ENSP00000506854.1:n.*1313C=
ENST00000311895.8:c.1619C= MANE Select ENSP00000310520.7:p.Ser540=
ENST00000311895.7:c.1619C= ENSP00000310520.7:p.Ser540=
ENST00000389138.7:n.896C=
NM_005236.2:c.1619C= , LRG_463t1:c.1619C= NP_005227.1:p.Ser540=
XM_011522424.1:c.1757C= XP_011520726.1:p.Ser586=
XM_011522425.1:c.1076C= XP_011520727.1:p.Ser359=
XM_011522426.1:c.830C= XP_011520728.1:p.Ser277=
XM_011522427.1:c.269C= XP_011520729.1:p.Ser90=
XR_932805.1:n.1778C=
XM_011522424.3:c.1757C= XP_011520726.1:p.Ser586=
XM_017023043.2:c.830C= XP_016878532.1:p.Ser277=
NM_005236.3:c.1619C= MANE Select NP_005227.1:p.Ser540=