Canonical Allele Identifier: CA2209082740
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947844C= , CM000678.2:g.13947844C= GRCh38
NC_000016.9:g.14041701C= , CM000678.1:g.14041701C= GRCh37
NC_000016.8:g.13949202C= NCBI36
NG_011442.1:g.32688C= , LRG_463:g.32688C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2386C= ENSP00000507912.1:p.Arg796=
ENST00000683962.1:c.*1942C= ENSP00000506854.1:n.*1942C=
ENST00000311895.8:c.2248C= MANE Select ENSP00000310520.7:p.Arg750=
ENST00000311895.7:c.2248C= ENSP00000310520.7:p.Arg750=
ENST00000389138.7:n.1525C=
ENST00000462862.1:c.561C= ENSP00000461322.1:n.561C=
NM_005236.2:c.2248C= , LRG_463t1:c.2248C= NP_005227.1:p.Arg750=
XM_011522424.1:c.2386C= XP_011520726.1:p.Arg796=
XM_011522425.1:c.1705C= XP_011520727.1:p.Arg569=
XM_011522426.1:c.1459C= XP_011520728.1:p.Arg487=
XM_011522427.1:c.898C= XP_011520729.1:p.Arg300=
XR_932805.1:n.2407C=
XM_011522424.3:c.2386C= XP_011520726.1:p.Arg796=
XM_017023043.2:c.1459C= XP_016878532.1:p.Arg487=
NM_005236.3:c.2248C= MANE Select NP_005227.1:p.Arg750=