Canonical Allele Identifier: CA394812600

Gene: ERCC4

Linked Data

• dbSNP Id: rs1380136628
• gnomAD v2: 16-14029539-G-A
• gnomAD v4: 16-13935682-G-A
• MyVariant Identifiers: chr16:g.14029539G>A (hg19) ; chr16:g.13935682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935682G>A , CM000678.2:g.13935682G>A	GRCh38
NC_000016.9:g.14029539G>A , CM000678.1:g.14029539G>A	GRCh37
NC_000016.8:g.13937040G>A	NCBI36
NG_011442.1:g.20526G>A , LRG_463:g.20526G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1828G>A
ENST00000682617.1:c.1888G>A	ENSP00000507912.1:p.Glu630Lys
ENST00000682826.1:c.*1064G>A	ENSP00000507274.1:n.*1064G>A
ENST00000682909.1:n.3790G>A
ENST00000683277.1:n.3395G>A
ENST00000683407.1:n.1758G>A
ENST00000683962.1:c.*1444G>A	ENSP00000506854.1:n.*1444G>A
ENST00000311895.8:c.1750G>A MANE Select	ENSP00000310520.7:p.Glu584Lys
ENST00000311895.7:c.1750G>A	ENSP00000310520.7:p.Glu584Lys
ENST00000389138.7:n.1027G>A
NM_005236.2:c.1750G>A , LRG_463t1:c.1750G>A	NP_005227.1:p.Glu584Lys
XM_011522424.1:c.1888G>A	XP_011520726.1:p.Glu630Lys
XM_011522425.1:c.1207G>A	XP_011520727.1:p.Glu403Lys
XM_011522426.1:c.961G>A	XP_011520728.1:p.Glu321Lys
XM_011522427.1:c.400G>A	XP_011520729.1:p.Glu134Lys
XR_932805.1:n.1909G>A
XM_011522424.3:c.1888G>A	XP_011520726.1:p.Glu630Lys
XM_017023043.2:c.961G>A	XP_016878532.1:p.Glu321Lys
NM_005236.3:c.1750G>A MANE Select	NP_005227.1:p.Glu584Lys