Canonical Allele Identifier: CA2209082642
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947642A= , CM000678.2:g.13947642A= GRCh38
NC_000016.9:g.14041499A= , CM000678.1:g.14041499A= GRCh37
NC_000016.8:g.13949000A= NCBI36
NG_011442.1:g.32486A= , LRG_463:g.32486A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2184A= ENSP00000507912.1:p.Gln728=
ENST00000683962.1:c.*1740A= ENSP00000506854.1:n.*1740A=
ENST00000311895.8:c.2046A= MANE Select ENSP00000310520.7:p.Gln682=
ENST00000311895.7:c.2046A= ENSP00000310520.7:p.Gln682=
ENST00000389138.7:n.1323A=
ENST00000462862.1:c.359A= ENSP00000461322.1:n.359A=
NM_005236.2:c.2046A= , LRG_463t1:c.2046A= NP_005227.1:p.Gln682=
XM_011522424.1:c.2184A= XP_011520726.1:p.Gln728=
XM_011522425.1:c.1503A= XP_011520727.1:p.Gln501=
XM_011522426.1:c.1257A= XP_011520728.1:p.Gln419=
XM_011522427.1:c.696A= XP_011520729.1:p.Gln232=
XR_932805.1:n.2205A=
XM_011522424.3:c.2184A= XP_011520726.1:p.Gln728=
XM_017023043.2:c.1257A= XP_016878532.1:p.Gln419=
NM_005236.3:c.2046A= MANE Select NP_005227.1:p.Gln682=