Canonical Allele Identifier: CA394808940

Gene: ERCC4

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935176G>C , CM000678.2:g.13935176G>C	GRCh38
NC_000016.9:g.14029033G>C , CM000678.1:g.14029033G>C	GRCh37
NC_000016.8:g.13936534G>C	NCBI36
NG_011442.1:g.20020G>C , LRG_463:g.20020G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1322G>C
ENST00000682617.1:c.1382G>C	ENSP00000507912.1:p.Arg461Pro
ENST00000682826.1:c.*558G>C	ENSP00000507274.1:n.*558G>C
ENST00000682909.1:n.3284G>C
ENST00000683277.1:n.2889G>C
ENST00000683407.1:n.1252G>C
ENST00000683962.1:c.*938G>C	ENSP00000506854.1:n.*938G>C
ENST00000311895.8:c.1244G>C MANE Select	ENSP00000310520.7:p.Arg415Pro
ENST00000311895.7:c.1244G>C	ENSP00000310520.7:p.Arg415Pro
ENST00000389138.7:n.521G>C
ENST00000573018.1:n.312G>C
NM_005236.2:c.1244G>C , LRG_463t1:c.1244G>C	NP_005227.1:p.Arg415Pro
XM_011522424.1:c.1382G>C	XP_011520726.1:p.Arg461Pro
XM_011522425.1:c.701G>C	XP_011520727.1:p.Arg234Pro
XM_011522426.1:c.455G>C	XP_011520728.1:p.Arg152Pro
XM_011522427.1:c.-107G>C	XP_011520729.1:n.-107G>C
XR_932805.1:n.1403G>C
XM_011522424.3:c.1382G>C	XP_011520726.1:p.Arg461Pro
XM_017023043.2:c.455G>C	XP_016878532.1:p.Arg152Pro
NM_005236.3:c.1244G>C MANE Select	NP_005227.1:p.Arg415Pro