Canonical Allele Identifier: CA2209073247
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935554A= , CM000678.2:g.13935554A= GRCh38
NC_000016.9:g.14029411A= , CM000678.1:g.14029411A= GRCh37
NC_000016.8:g.13936912A= NCBI36
NG_011442.1:g.20398A= , LRG_463:g.20398A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1700A=
ENST00000682617.1:c.1760A= ENSP00000507912.1:p.Asp587=
ENST00000682826.1:c.*936A= ENSP00000507274.1:n.*936A=
ENST00000682909.1:n.3662A=
ENST00000683277.1:n.3267A=
ENST00000683407.1:n.1630A=
ENST00000683962.1:c.*1316A= ENSP00000506854.1:n.*1316A=
ENST00000311895.8:c.1622A= MANE Select ENSP00000310520.7:p.Asp541=
ENST00000311895.7:c.1622A= ENSP00000310520.7:p.Asp541=
ENST00000389138.7:n.899A=
NM_005236.2:c.1622A= , LRG_463t1:c.1622A= NP_005227.1:p.Asp541=
XM_011522424.1:c.1760A= XP_011520726.1:p.Asp587=
XM_011522425.1:c.1079A= XP_011520727.1:p.Asp360=
XM_011522426.1:c.833A= XP_011520728.1:p.Asp278=
XM_011522427.1:c.272A= XP_011520729.1:p.Asp91=
XR_932805.1:n.1781A=
XM_011522424.3:c.1760A= XP_011520726.1:p.Asp587=
XM_017023043.2:c.833A= XP_016878532.1:p.Asp278=
NM_005236.3:c.1622A= MANE Select NP_005227.1:p.Asp541=