Canonical Allele Identifier: CA2209073418
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935659G= , CM000678.2:g.13935659G= GRCh38
NC_000016.9:g.14029516G= , CM000678.1:g.14029516G= GRCh37
NC_000016.8:g.13937017G= NCBI36
NG_011442.1:g.20503G= , LRG_463:g.20503G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1805G=
ENST00000682617.1:c.1865G= ENSP00000507912.1:p.Arg622=
ENST00000682826.1:c.*1041G= ENSP00000507274.1:n.*1041G=
ENST00000682909.1:n.3767G=
ENST00000683277.1:n.3372G=
ENST00000683407.1:n.1735G=
ENST00000683962.1:c.*1421G= ENSP00000506854.1:n.*1421G=
ENST00000311895.8:c.1727G= MANE Select ENSP00000310520.7:p.Arg576=
ENST00000311895.7:c.1727G= ENSP00000310520.7:p.Arg576=
ENST00000389138.7:n.1004G=
NM_005236.2:c.1727G= , LRG_463t1:c.1727G= NP_005227.1:p.Arg576=
XM_011522424.1:c.1865G= XP_011520726.1:p.Arg622=
XM_011522425.1:c.1184G= XP_011520727.1:p.Arg395=
XM_011522426.1:c.938G= XP_011520728.1:p.Arg313=
XM_011522427.1:c.377G= XP_011520729.1:p.Arg126=
XR_932805.1:n.1886G=
XM_011522424.3:c.1865G= XP_011520726.1:p.Arg622=
XM_017023043.2:c.938G= XP_016878532.1:p.Arg313=
NM_005236.3:c.1727G= MANE Select NP_005227.1:p.Arg576=