Canonical Allele Identifier: CA2209073540
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935717G= , CM000678.2:g.13935717G= GRCh38
NC_000016.9:g.14029574G= , CM000678.1:g.14029574G= GRCh37
NC_000016.8:g.13937075G= NCBI36
NG_011442.1:g.20561G= , LRG_463:g.20561G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1863G=
ENST00000682617.1:c.1923G= ENSP00000507912.1:p.Arg641=
ENST00000682826.1:c.*1099G= ENSP00000507274.1:n.*1099G=
ENST00000682909.1:n.3825G=
ENST00000683277.1:n.3430G=
ENST00000683407.1:n.1793G=
ENST00000683962.1:c.*1479G= ENSP00000506854.1:n.*1479G=
ENST00000311895.8:c.1785G= MANE Select ENSP00000310520.7:p.Arg595=
ENST00000311895.7:c.1785G= ENSP00000310520.7:p.Arg595=
ENST00000389138.7:n.1062G=
NM_005236.2:c.1785G= , LRG_463t1:c.1785G= NP_005227.1:p.Arg595=
XM_011522424.1:c.1923G= XP_011520726.1:p.Arg641=
XM_011522425.1:c.1242G= XP_011520727.1:p.Arg414=
XM_011522426.1:c.996G= XP_011520728.1:p.Arg332=
XM_011522427.1:c.435G= XP_011520729.1:p.Arg145=
XR_932805.1:n.1944G=
XM_011522424.3:c.1923G= XP_011520726.1:p.Arg641=
XM_017023043.2:c.996G= XP_016878532.1:p.Arg332=
NM_005236.3:c.1785G= MANE Select NP_005227.1:p.Arg595=