Canonical Allele Identifier: CA394818096
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944810T>A , CM000678.2:g.13944810T>A GRCh38
NC_000016.9:g.14038667T>A , CM000678.1:g.14038667T>A GRCh37
NC_000016.8:g.13946168T>A NCBI36
NG_011442.1:g.29654T>A , LRG_463:g.29654T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2130T>A ENSP00000507912.1:p.Asp710Glu
ENST00000683962.1:c.*1686T>A ENSP00000506854.1:n.*1686T>A
ENST00000311895.8:c.1992T>A MANE Select ENSP00000310520.7:p.Asp664Glu
ENST00000311895.7:c.1992T>A ENSP00000310520.7:p.Asp664Glu
ENST00000389138.7:n.1269T>A
ENST00000462862.1:c.305T>A ENSP00000461322.1:n.305T>A
NM_005236.2:c.1992T>A , LRG_463t1:c.1992T>A NP_005227.1:p.Asp664Glu
XM_011522424.1:c.2130T>A XP_011520726.1:p.Asp710Glu
XM_011522425.1:c.1449T>A XP_011520727.1:p.Asp483Glu
XM_011522426.1:c.1203T>A XP_011520728.1:p.Asp401Glu
XM_011522427.1:c.642T>A XP_011520729.1:p.Asp214Glu
XR_932805.1:n.2151T>A
XM_011522424.3:c.2130T>A XP_011520726.1:p.Asp710Glu
XM_017023043.2:c.1203T>A XP_016878532.1:p.Asp401Glu
NM_005236.3:c.1992T>A MANE Select NP_005227.1:p.Asp664Glu