Canonical Allele Identifier: CA2209073522
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935700C= , CM000678.2:g.13935700C= GRCh38
NC_000016.9:g.14029557C= , CM000678.1:g.14029557C= GRCh37
NC_000016.8:g.13937058C= NCBI36
NG_011442.1:g.20544C= , LRG_463:g.20544C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1846C=
ENST00000682617.1:c.1906C= ENSP00000507912.1:p.Gln636=
ENST00000682826.1:c.*1082C= ENSP00000507274.1:n.*1082C=
ENST00000682909.1:n.3808C=
ENST00000683277.1:n.3413C=
ENST00000683407.1:n.1776C=
ENST00000683962.1:c.*1462C= ENSP00000506854.1:n.*1462C=
ENST00000311895.8:c.1768C= MANE Select ENSP00000310520.7:p.Gln590=
ENST00000311895.7:c.1768C= ENSP00000310520.7:p.Gln590=
ENST00000389138.7:n.1045C=
NM_005236.2:c.1768C= , LRG_463t1:c.1768C= NP_005227.1:p.Gln590=
XM_011522424.1:c.1906C= XP_011520726.1:p.Gln636=
XM_011522425.1:c.1225C= XP_011520727.1:p.Gln409=
XM_011522426.1:c.979C= XP_011520728.1:p.Gln327=
XM_011522427.1:c.418C= XP_011520729.1:p.Gln140=
XR_932805.1:n.1927C=
XM_011522424.3:c.1906C= XP_011520726.1:p.Gln636=
XM_017023043.2:c.979C= XP_016878532.1:p.Gln327=
NM_005236.3:c.1768C= MANE Select NP_005227.1:p.Gln590=