Canonical Allele Identifier: CA2209073539
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935716G= , CM000678.2:g.13935716G= GRCh38
NC_000016.9:g.14029573G= , CM000678.1:g.14029573G= GRCh37
NC_000016.8:g.13937074G= NCBI36
NG_011442.1:g.20560G= , LRG_463:g.20560G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1862G=
ENST00000682617.1:c.1922G= ENSP00000507912.1:p.Arg641=
ENST00000682826.1:c.*1098G= ENSP00000507274.1:n.*1098G=
ENST00000682909.1:n.3824G=
ENST00000683277.1:n.3429G=
ENST00000683407.1:n.1792G=
ENST00000683962.1:c.*1478G= ENSP00000506854.1:n.*1478G=
ENST00000311895.8:c.1784G= MANE Select ENSP00000310520.7:p.Arg595=
ENST00000311895.7:c.1784G= ENSP00000310520.7:p.Arg595=
ENST00000389138.7:n.1061G=
NM_005236.2:c.1784G= , LRG_463t1:c.1784G= NP_005227.1:p.Arg595=
XM_011522424.1:c.1922G= XP_011520726.1:p.Arg641=
XM_011522425.1:c.1241G= XP_011520727.1:p.Arg414=
XM_011522426.1:c.995G= XP_011520728.1:p.Arg332=
XM_011522427.1:c.434G= XP_011520729.1:p.Arg145=
XR_932805.1:n.1943G=
XM_011522424.3:c.1922G= XP_011520726.1:p.Arg641=
XM_017023043.2:c.995G= XP_016878532.1:p.Arg332=
NM_005236.3:c.1784G= MANE Select NP_005227.1:p.Arg595=