Canonical Allele Identifier: CA394806012

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13932286G>T , CM000678.2:g.13932286G>T	GRCh38
NC_000016.9:g.14026143G>T , CM000678.1:g.14026143G>T	GRCh37
NC_000016.8:g.13933644G>T	NCBI36
NG_011442.1:g.17130G>T , LRG_463:g.17130G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.1102+1G>T MANE Select	NP_005227.1:n.1102+1G>T
ENST00000311895.8:c.1102+1G>T MANE Select	ENSP00000310520.7:n.1102+1G>T
NM_005236.2:c.1102+1G>T , LRG_463t1:c.1102+1G>T	NP_005227.1:n.1102+1G>T
ENST00000311895.7:c.1102+1G>T	ENSP00000310520.7:n.1102+1G>T
ENST00000389138.7:n.261G>T
ENST00000575156.5:c.1103G>T	ENSP00000459933.1:p.Gly368Val
ENST00000682552.1:n.1090+1G>T
ENST00000682568.1:n.1180+1G>T
ENST00000682617.1:c.1240+1G>T	ENSP00000507912.1:n.1240+1G>T
ENST00000682826.1:c.*416+1G>T	ENSP00000507274.1:n.*416+1G>T
ENST00000682909.1:n.3142+1G>T
ENST00000683277.1:n.2747+1G>T
ENST00000683407.1:n.1110+1G>T
ENST00000683962.1:c.*796+1G>T	ENSP00000506854.1:n.*796+1G>T
XM_011522424.1:c.1240+1G>T	XP_011520726.1:n.1240+1G>T
XM_011522424.3:c.1240+1G>T	XP_011520726.1:n.1240+1G>T
XM_011522425.1:c.559+1G>T	XP_011520727.1:n.559+1G>T
XM_011522426.1:c.313+1G>T	XP_011520728.1:n.313+1G>T
XM_011522427.1:c.-367G>T	XP_011520729.1:n.-367G>T
XM_017023043.2:c.313+1G>T	XP_016878532.1:n.313+1G>T
XR_932805.1:n.1261+1G>T