Canonical Allele Identifier: CA2209073386
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935634A= , CM000678.2:g.13935634A= GRCh38
NC_000016.9:g.14029491A= , CM000678.1:g.14029491A= GRCh37
NC_000016.8:g.13936992A= NCBI36
NG_011442.1:g.20478A= , LRG_463:g.20478A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1780A=
ENST00000682617.1:c.1840A= ENSP00000507912.1:p.Arg614=
ENST00000682826.1:c.*1016A= ENSP00000507274.1:n.*1016A=
ENST00000682909.1:n.3742A=
ENST00000683277.1:n.3347A=
ENST00000683407.1:n.1710A=
ENST00000683962.1:c.*1396A= ENSP00000506854.1:n.*1396A=
ENST00000311895.8:c.1702A= MANE Select ENSP00000310520.7:p.Arg568=
ENST00000311895.7:c.1702A= ENSP00000310520.7:p.Arg568=
ENST00000389138.7:n.979A=
NM_005236.2:c.1702A= , LRG_463t1:c.1702A= NP_005227.1:p.Arg568=
XM_011522424.1:c.1840A= XP_011520726.1:p.Arg614=
XM_011522425.1:c.1159A= XP_011520727.1:p.Arg387=
XM_011522426.1:c.913A= XP_011520728.1:p.Arg305=
XM_011522427.1:c.352A= XP_011520729.1:p.Arg118=
XR_932805.1:n.1861A=
XM_011522424.3:c.1840A= XP_011520726.1:p.Arg614=
XM_017023043.2:c.913A= XP_016878532.1:p.Arg305=
NM_005236.3:c.1702A= MANE Select NP_005227.1:p.Arg568=