Canonical Allele Identifier: CA2209073392
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935637G= , CM000678.2:g.13935637G= GRCh38
NC_000016.9:g.14029494G= , CM000678.1:g.14029494G= GRCh37
NC_000016.8:g.13936995G= NCBI36
NG_011442.1:g.20481G= , LRG_463:g.20481G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1783G=
ENST00000682617.1:c.1843G= ENSP00000507912.1:p.Val615=
ENST00000682826.1:c.*1019G= ENSP00000507274.1:n.*1019G=
ENST00000682909.1:n.3745G=
ENST00000683277.1:n.3350G=
ENST00000683407.1:n.1713G=
ENST00000683962.1:c.*1399G= ENSP00000506854.1:n.*1399G=
ENST00000311895.8:c.1705G= MANE Select ENSP00000310520.7:p.Val569=
ENST00000311895.7:c.1705G= ENSP00000310520.7:p.Val569=
ENST00000389138.7:n.982G=
NM_005236.2:c.1705G= , LRG_463t1:c.1705G= NP_005227.1:p.Val569=
XM_011522424.1:c.1843G= XP_011520726.1:p.Val615=
XM_011522425.1:c.1162G= XP_011520727.1:p.Val388=
XM_011522426.1:c.916G= XP_011520728.1:p.Val306=
XM_011522427.1:c.355G= XP_011520729.1:p.Val119=
XR_932805.1:n.1864G=
XM_011522424.3:c.1843G= XP_011520726.1:p.Val615=
XM_017023043.2:c.916G= XP_016878532.1:p.Val306=
NM_005236.3:c.1705G= MANE Select NP_005227.1:p.Val569=