Canonical Allele Identifier: CA2209073343
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935613A= , CM000678.2:g.13935613A= GRCh38
NC_000016.9:g.14029470A= , CM000678.1:g.14029470A= GRCh37
NC_000016.8:g.13936971A= NCBI36
NG_011442.1:g.20457A= , LRG_463:g.20457A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1759A=
ENST00000682617.1:c.1819A= ENSP00000507912.1:p.Ser607=
ENST00000682826.1:c.*995A= ENSP00000507274.1:n.*995A=
ENST00000682909.1:n.3721A=
ENST00000683277.1:n.3326A=
ENST00000683407.1:n.1689A=
ENST00000683962.1:c.*1375A= ENSP00000506854.1:n.*1375A=
ENST00000311895.8:c.1681A= MANE Select ENSP00000310520.7:p.Ser561=
ENST00000311895.7:c.1681A= ENSP00000310520.7:p.Ser561=
ENST00000389138.7:n.958A=
NM_005236.2:c.1681A= , LRG_463t1:c.1681A= NP_005227.1:p.Ser561=
XM_011522424.1:c.1819A= XP_011520726.1:p.Ser607=
XM_011522425.1:c.1138A= XP_011520727.1:p.Ser380=
XM_011522426.1:c.892A= XP_011520728.1:p.Ser298=
XM_011522427.1:c.331A= XP_011520729.1:p.Ser111=
XR_932805.1:n.1840A=
XM_011522424.3:c.1819A= XP_011520726.1:p.Ser607=
XM_017023043.2:c.892A= XP_016878532.1:p.Ser298=
NM_005236.3:c.1681A= MANE Select NP_005227.1:p.Ser561=