Canonical Allele Identifier: CA493689629

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947690G>A , CM000678.2:g.13947690G>A	GRCh38
NC_000016.9:g.14041547G>A , CM000678.1:g.14041547G>A	GRCh37
NC_000016.8:g.13949048G>A	NCBI36
NG_011442.1:g.32534G>A , LRG_463:g.32534G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2094G>A MANE Select	NP_005227.1:p.Leu698=
ENST00000311895.8:c.2094G>A MANE Select	ENSP00000310520.7:p.Leu698=
NM_005236.2:c.2094G>A , LRG_463t1:c.2094G>A	NP_005227.1:p.Leu698=
ENST00000311895.7:c.2094G>A	ENSP00000310520.7:p.Leu698=
ENST00000389138.7:n.1371G>A
ENST00000462862.1:c.407G>A	ENSP00000461322.1:n.407G>A
ENST00000682617.1:c.2232G>A	ENSP00000507912.1:p.Leu744=
ENST00000683962.1:c.*1788G>A	ENSP00000506854.1:n.*1788G>A
XM_011522424.1:c.2232G>A	XP_011520726.1:p.Leu744=
XM_011522424.3:c.2232G>A	XP_011520726.1:p.Leu744=
XM_011522425.1:c.1551G>A	XP_011520727.1:p.Leu517=
XM_011522426.1:c.1305G>A	XP_011520728.1:p.Leu435=
XM_011522427.1:c.744G>A	XP_011520729.1:p.Leu248=
XM_017023043.2:c.1305G>A	XP_016878532.1:p.Leu435=
XR_932805.1:n.2253G>A