Canonical Allele Identifier: CA2209073406
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935648A= , CM000678.2:g.13935648A= GRCh38
NC_000016.9:g.14029505A= , CM000678.1:g.14029505A= GRCh37
NC_000016.8:g.13937006A= NCBI36
NG_011442.1:g.20492A= , LRG_463:g.20492A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1794A=
ENST00000682617.1:c.1854A= ENSP00000507912.1:p.Glu618=
ENST00000682826.1:c.*1030A= ENSP00000507274.1:n.*1030A=
ENST00000682909.1:n.3756A=
ENST00000683277.1:n.3361A=
ENST00000683407.1:n.1724A=
ENST00000683962.1:c.*1410A= ENSP00000506854.1:n.*1410A=
ENST00000311895.8:c.1716A= MANE Select ENSP00000310520.7:p.Glu572=
ENST00000311895.7:c.1716A= ENSP00000310520.7:p.Glu572=
ENST00000389138.7:n.993A=
NM_005236.2:c.1716A= , LRG_463t1:c.1716A= NP_005227.1:p.Glu572=
XM_011522424.1:c.1854A= XP_011520726.1:p.Glu618=
XM_011522425.1:c.1173A= XP_011520727.1:p.Glu391=
XM_011522426.1:c.927A= XP_011520728.1:p.Glu309=
XM_011522427.1:c.366A= XP_011520729.1:p.Glu122=
XR_932805.1:n.1875A=
XM_011522424.3:c.1854A= XP_011520726.1:p.Glu618=
XM_017023043.2:c.927A= XP_016878532.1:p.Glu309=
NM_005236.3:c.1716A= MANE Select NP_005227.1:p.Glu572=