Canonical Allele Identifier: CA2209073275
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935568A= , CM000678.2:g.13935568A= GRCh38
NC_000016.9:g.14029425A= , CM000678.1:g.14029425A= GRCh37
NC_000016.8:g.13936926A= NCBI36
NG_011442.1:g.20412A= , LRG_463:g.20412A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1714A=
ENST00000682617.1:c.1774A= ENSP00000507912.1:p.Ile592=
ENST00000682826.1:c.*950A= ENSP00000507274.1:n.*950A=
ENST00000682909.1:n.3676A=
ENST00000683277.1:n.3281A=
ENST00000683407.1:n.1644A=
ENST00000683962.1:c.*1330A= ENSP00000506854.1:n.*1330A=
ENST00000311895.8:c.1636A= MANE Select ENSP00000310520.7:p.Ile546=
ENST00000311895.7:c.1636A= ENSP00000310520.7:p.Ile546=
ENST00000389138.7:n.913A=
NM_005236.2:c.1636A= , LRG_463t1:c.1636A= NP_005227.1:p.Ile546=
XM_011522424.1:c.1774A= XP_011520726.1:p.Ile592=
XM_011522425.1:c.1093A= XP_011520727.1:p.Ile365=
XM_011522426.1:c.847A= XP_011520728.1:p.Ile283=
XM_011522427.1:c.286A= XP_011520729.1:p.Ile96=
XR_932805.1:n.1795A=
XM_011522424.3:c.1774A= XP_011520726.1:p.Ile592=
XM_017023043.2:c.847A= XP_016878532.1:p.Ile283=
NM_005236.3:c.1636A= MANE Select NP_005227.1:p.Ile546=