Canonical Allele Identifier: CA2209082709
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947782T= , CM000678.2:g.13947782T= GRCh38
NC_000016.9:g.14041639T= , CM000678.1:g.14041639T= GRCh37
NC_000016.8:g.13949140T= NCBI36
NG_011442.1:g.32626T= , LRG_463:g.32626T=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2186T= MANE Select NP_005227.1:p.Ile729=
ENST00000311895.8:c.2186T= MANE Select ENSP00000310520.7:p.Ile729=
NM_005236.2:c.2186T= , LRG_463t1:c.2186T= NP_005227.1:p.Ile729=
ENST00000311895.7:c.2186T= ENSP00000310520.7:p.Ile729=
ENST00000389138.7:n.1463T=
ENST00000462862.1:c.499T= ENSP00000461322.1:n.499T=
ENST00000682617.1:c.2324T= ENSP00000507912.1:p.Ile775=
ENST00000683962.1:c.*1880T= ENSP00000506854.1:n.*1880T=
XM_011522424.1:c.2324T= XP_011520726.1:p.Ile775=
XM_011522424.3:c.2324T= XP_011520726.1:p.Ile775=
XM_011522425.1:c.1643T= XP_011520727.1:p.Ile548=
XM_011522426.1:c.1397T= XP_011520728.1:p.Ile466=
XM_011522427.1:c.836T= XP_011520729.1:p.Ile279=
XM_017023043.2:c.1397T= XP_016878532.1:p.Ile466=
XR_932805.1:n.2345T=