Canonical Allele Identifier: CA2209073307
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935587C= , CM000678.2:g.13935587C= GRCh38
NC_000016.9:g.14029444C= , CM000678.1:g.14029444C= GRCh37
NC_000016.8:g.13936945C= NCBI36
NG_011442.1:g.20431C= , LRG_463:g.20431C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1733C=
ENST00000682617.1:c.1793C= ENSP00000507912.1:p.Thr598=
ENST00000682826.1:c.*969C= ENSP00000507274.1:n.*969C=
ENST00000682909.1:n.3695C=
ENST00000683277.1:n.3300C=
ENST00000683407.1:n.1663C=
ENST00000683962.1:c.*1349C= ENSP00000506854.1:n.*1349C=
ENST00000311895.8:c.1655C= MANE Select ENSP00000310520.7:p.Thr552=
ENST00000311895.7:c.1655C= ENSP00000310520.7:p.Thr552=
ENST00000389138.7:n.932C=
NM_005236.2:c.1655C= , LRG_463t1:c.1655C= NP_005227.1:p.Thr552=
XM_011522424.1:c.1793C= XP_011520726.1:p.Thr598=
XM_011522425.1:c.1112C= XP_011520727.1:p.Thr371=
XM_011522426.1:c.866C= XP_011520728.1:p.Thr289=
XM_011522427.1:c.305C= XP_011520729.1:p.Thr102=
XR_932805.1:n.1814C=
XM_011522424.3:c.1793C= XP_011520726.1:p.Thr598=
XM_017023043.2:c.866C= XP_016878532.1:p.Thr289=
NM_005236.3:c.1655C= MANE Select NP_005227.1:p.Thr552=