Canonical Allele Identifier: CA2209073526
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935701A= , CM000678.2:g.13935701A= GRCh38
NC_000016.9:g.14029558A= , CM000678.1:g.14029558A= GRCh37
NC_000016.8:g.13937059A= NCBI36
NG_011442.1:g.20545A= , LRG_463:g.20545A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1847A=
ENST00000682617.1:c.1907A= ENSP00000507912.1:p.Gln636=
ENST00000682826.1:c.*1083A= ENSP00000507274.1:n.*1083A=
ENST00000682909.1:n.3809A=
ENST00000683277.1:n.3414A=
ENST00000683407.1:n.1777A=
ENST00000683962.1:c.*1463A= ENSP00000506854.1:n.*1463A=
ENST00000311895.8:c.1769A= MANE Select ENSP00000310520.7:p.Gln590=
ENST00000311895.7:c.1769A= ENSP00000310520.7:p.Gln590=
ENST00000389138.7:n.1046A=
NM_005236.2:c.1769A= , LRG_463t1:c.1769A= NP_005227.1:p.Gln590=
XM_011522424.1:c.1907A= XP_011520726.1:p.Gln636=
XM_011522425.1:c.1226A= XP_011520727.1:p.Gln409=
XM_011522426.1:c.980A= XP_011520728.1:p.Gln327=
XM_011522427.1:c.419A= XP_011520729.1:p.Gln140=
XR_932805.1:n.1928A=
XM_011522424.3:c.1907A= XP_011520726.1:p.Gln636=
XM_017023043.2:c.980A= XP_016878532.1:p.Gln327=
NM_005236.3:c.1769A= MANE Select NP_005227.1:p.Gln590=