Canonical Allele Identifier: CA2209082691
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947747C= , CM000678.2:g.13947747C= GRCh38
NC_000016.9:g.14041604C= , CM000678.1:g.14041604C= GRCh37
NC_000016.8:g.13949105C= NCBI36
NG_011442.1:g.32591C= , LRG_463:g.32591C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2289C= ENSP00000507912.1:p.Ile763=
ENST00000683962.1:c.*1845C= ENSP00000506854.1:n.*1845C=
ENST00000311895.8:c.2151C= MANE Select ENSP00000310520.7:p.Ile717=
ENST00000311895.7:c.2151C= ENSP00000310520.7:p.Ile717=
ENST00000389138.7:n.1428C=
ENST00000462862.1:c.464C= ENSP00000461322.1:n.464C=
NM_005236.2:c.2151C= , LRG_463t1:c.2151C= NP_005227.1:p.Ile717=
XM_011522424.1:c.2289C= XP_011520726.1:p.Ile763=
XM_011522425.1:c.1608C= XP_011520727.1:p.Ile536=
XM_011522426.1:c.1362C= XP_011520728.1:p.Ile454=
XM_011522427.1:c.801C= XP_011520729.1:p.Ile267=
XR_932805.1:n.2310C=
XM_011522424.3:c.2289C= XP_011520726.1:p.Ile763=
XM_017023043.2:c.1362C= XP_016878532.1:p.Ile454=
NM_005236.3:c.2151C= MANE Select NP_005227.1:p.Ile717=