Canonical Allele Identifier: CA493689557

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029541G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935684G>A , CM000678.2:g.13935684G>A	GRCh38
NC_000016.9:g.14029541G>A , CM000678.1:g.14029541G>A	GRCh37
NC_000016.8:g.13937042G>A	NCBI36
NG_011442.1:g.20528G>A , LRG_463:g.20528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1830G>A
ENST00000682617.1:c.1890G>A	ENSP00000507912.1:p.Glu630=
ENST00000682826.1:c.*1066G>A	ENSP00000507274.1:n.*1066G>A
ENST00000682909.1:n.3792G>A
ENST00000683277.1:n.3397G>A
ENST00000683407.1:n.1760G>A
ENST00000683962.1:c.*1446G>A	ENSP00000506854.1:n.*1446G>A
ENST00000311895.8:c.1752G>A MANE Select	ENSP00000310520.7:p.Glu584=
ENST00000311895.7:c.1752G>A	ENSP00000310520.7:p.Glu584=
ENST00000389138.7:n.1029G>A
NM_005236.2:c.1752G>A , LRG_463t1:c.1752G>A	NP_005227.1:p.Glu584=
XM_011522424.1:c.1890G>A	XP_011520726.1:p.Glu630=
XM_011522425.1:c.1209G>A	XP_011520727.1:p.Glu403=
XM_011522426.1:c.963G>A	XP_011520728.1:p.Glu321=
XM_011522427.1:c.402G>A	XP_011520729.1:p.Glu134=
XR_932805.1:n.1911G>A
XM_011522424.3:c.1890G>A	XP_011520726.1:p.Glu630=
XM_017023043.2:c.963G>A	XP_016878532.1:p.Glu321=
NM_005236.3:c.1752G>A MANE Select	NP_005227.1:p.Glu584=