Canonical Allele Identifier: CA2209082670
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947697C= , CM000678.2:g.13947697C= GRCh38
NC_000016.9:g.14041554C= , CM000678.1:g.14041554C= GRCh37
NC_000016.8:g.13949055C= NCBI36
NG_011442.1:g.32541C= , LRG_463:g.32541C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2239C= ENSP00000507912.1:p.Arg747=
ENST00000683962.1:c.*1795C= ENSP00000506854.1:n.*1795C=
ENST00000311895.8:c.2101C= MANE Select ENSP00000310520.7:p.Arg701=
ENST00000311895.7:c.2101C= ENSP00000310520.7:p.Arg701=
ENST00000389138.7:n.1378C=
ENST00000462862.1:c.414C= ENSP00000461322.1:n.414C=
NM_005236.2:c.2101C= , LRG_463t1:c.2101C= NP_005227.1:p.Arg701=
XM_011522424.1:c.2239C= XP_011520726.1:p.Arg747=
XM_011522425.1:c.1558C= XP_011520727.1:p.Arg520=
XM_011522426.1:c.1312C= XP_011520728.1:p.Arg438=
XM_011522427.1:c.751C= XP_011520729.1:p.Arg251=
XR_932805.1:n.2260C=
XM_011522424.3:c.2239C= XP_011520726.1:p.Arg747=
XM_017023043.2:c.1312C= XP_016878532.1:p.Arg438=
NM_005236.3:c.2101C= MANE Select NP_005227.1:p.Arg701=