Canonical Allele Identifier: CA2209073510
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935697C= , CM000678.2:g.13935697C= GRCh38
NC_000016.9:g.14029554C= , CM000678.1:g.14029554C= GRCh37
NC_000016.8:g.13937055C= NCBI36
NG_011442.1:g.20541C= , LRG_463:g.20541C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1843C=
ENST00000682617.1:c.1903C= ENSP00000507912.1:p.Arg635=
ENST00000682826.1:c.*1079C= ENSP00000507274.1:n.*1079C=
ENST00000682909.1:n.3805C=
ENST00000683277.1:n.3410C=
ENST00000683407.1:n.1773C=
ENST00000683962.1:c.*1459C= ENSP00000506854.1:n.*1459C=
ENST00000311895.8:c.1765C= MANE Select ENSP00000310520.7:p.Arg589=
ENST00000311895.7:c.1765C= ENSP00000310520.7:p.Arg589=
ENST00000389138.7:n.1042C=
NM_005236.2:c.1765C= , LRG_463t1:c.1765C= NP_005227.1:p.Arg589=
XM_011522424.1:c.1903C= XP_011520726.1:p.Arg635=
XM_011522425.1:c.1222C= XP_011520727.1:p.Arg408=
XM_011522426.1:c.976C= XP_011520728.1:p.Arg326=
XM_011522427.1:c.415C= XP_011520729.1:p.Arg139=
XR_932805.1:n.1924C=
XM_011522424.3:c.1903C= XP_011520726.1:p.Arg635=
XM_017023043.2:c.976C= XP_016878532.1:p.Arg326=
NM_005236.3:c.1765C= MANE Select NP_005227.1:p.Arg589=