Canonical Allele Identifier: CA2209073305
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935586A= , CM000678.2:g.13935586A= GRCh38
NC_000016.9:g.14029443A= , CM000678.1:g.14029443A= GRCh37
NC_000016.8:g.13936944A= NCBI36
NG_011442.1:g.20430A= , LRG_463:g.20430A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1732A=
ENST00000682617.1:c.1792A= ENSP00000507912.1:p.Thr598=
ENST00000682826.1:c.*968A= ENSP00000507274.1:n.*968A=
ENST00000682909.1:n.3694A=
ENST00000683277.1:n.3299A=
ENST00000683407.1:n.1662A=
ENST00000683962.1:c.*1348A= ENSP00000506854.1:n.*1348A=
ENST00000311895.8:c.1654A= MANE Select ENSP00000310520.7:p.Thr552=
ENST00000311895.7:c.1654A= ENSP00000310520.7:p.Thr552=
ENST00000389138.7:n.931A=
NM_005236.2:c.1654A= , LRG_463t1:c.1654A= NP_005227.1:p.Thr552=
XM_011522424.1:c.1792A= XP_011520726.1:p.Thr598=
XM_011522425.1:c.1111A= XP_011520727.1:p.Thr371=
XM_011522426.1:c.865A= XP_011520728.1:p.Thr289=
XM_011522427.1:c.304A= XP_011520729.1:p.Thr102=
XR_932805.1:n.1813A=
XM_011522424.3:c.1792A= XP_011520726.1:p.Thr598=
XM_017023043.2:c.865A= XP_016878532.1:p.Thr289=
NM_005236.3:c.1654A= MANE Select NP_005227.1:p.Thr552=