Canonical Allele Identifier: CA394811773

Gene: ERCC4

Linked Data

• dbSNP Id: rs1485867164
• gnomAD v2: 16-14029383-G-A
• gnomAD v4: 16-13935526-G-A
• MyVariant Identifiers: chr16:g.14029383G>A (hg19) ; chr16:g.13935526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935526G>A , CM000678.2:g.13935526G>A	GRCh38
NC_000016.9:g.14029383G>A , CM000678.1:g.14029383G>A	GRCh37
NC_000016.8:g.13936884G>A	NCBI36
NG_011442.1:g.20370G>A , LRG_463:g.20370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1672G>A
ENST00000682617.1:c.1732G>A	ENSP00000507912.1:p.Glu578Lys
ENST00000682826.1:c.*908G>A	ENSP00000507274.1:n.*908G>A
ENST00000682909.1:n.3634G>A
ENST00000683277.1:n.3239G>A
ENST00000683407.1:n.1602G>A
ENST00000683962.1:c.*1288G>A	ENSP00000506854.1:n.*1288G>A
ENST00000311895.8:c.1594G>A MANE Select	ENSP00000310520.7:p.Glu532Lys
ENST00000311895.7:c.1594G>A	ENSP00000310520.7:p.Glu532Lys
ENST00000389138.7:n.871G>A
NM_005236.2:c.1594G>A , LRG_463t1:c.1594G>A	NP_005227.1:p.Glu532Lys
XM_011522424.1:c.1732G>A	XP_011520726.1:p.Glu578Lys
XM_011522425.1:c.1051G>A	XP_011520727.1:p.Glu351Lys
XM_011522426.1:c.805G>A	XP_011520728.1:p.Glu269Lys
XM_011522427.1:c.244G>A	XP_011520729.1:p.Glu82Lys
XR_932805.1:n.1753G>A
XM_011522424.3:c.1732G>A	XP_011520726.1:p.Glu578Lys
XM_017023043.2:c.805G>A	XP_016878532.1:p.Glu269Lys
NM_005236.3:c.1594G>A MANE Select	NP_005227.1:p.Glu532Lys