Canonical Allele Identifier: CA2209073088
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935470G= , CM000678.2:g.13935470G= GRCh38
NC_000016.9:g.14029327G= , CM000678.1:g.14029327G= GRCh37
NC_000016.8:g.13936828G= NCBI36
NG_011442.1:g.20314G= , LRG_463:g.20314G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1616G=
ENST00000682617.1:c.1676G= ENSP00000507912.1:p.Gly559=
ENST00000682826.1:c.*852G= ENSP00000507274.1:n.*852G=
ENST00000682909.1:n.3578G=
ENST00000683277.1:n.3183G=
ENST00000683407.1:n.1546G=
ENST00000683962.1:c.*1232G= ENSP00000506854.1:n.*1232G=
ENST00000311895.8:c.1538G= MANE Select ENSP00000310520.7:p.Gly513=
ENST00000311895.7:c.1538G= ENSP00000310520.7:p.Gly513=
ENST00000389138.7:n.815G=
NM_005236.2:c.1538G= , LRG_463t1:c.1538G= NP_005227.1:p.Gly513=
XM_011522424.1:c.1676G= XP_011520726.1:p.Gly559=
XM_011522425.1:c.995G= XP_011520727.1:p.Gly332=
XM_011522426.1:c.749G= XP_011520728.1:p.Gly250=
XM_011522427.1:c.188G= XP_011520729.1:p.Gly63=
XR_932805.1:n.1697G=
XM_011522424.3:c.1676G= XP_011520726.1:p.Gly559=
XM_017023043.2:c.749G= XP_016878532.1:p.Gly250=
NM_005236.3:c.1538G= MANE Select NP_005227.1:p.Gly513=