Canonical Allele Identifier: CA394812471

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141607994
• gnomAD v4: 16-13935635-G-A
• MyVariant Identifiers: chr16:g.14029492G>A (hg19) ; chr16:g.13935635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935635G>A , CM000678.2:g.13935635G>A	GRCh38
NC_000016.9:g.14029492G>A , CM000678.1:g.14029492G>A	GRCh37
NC_000016.8:g.13936993G>A	NCBI36
NG_011442.1:g.20479G>A , LRG_463:g.20479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1781G>A
ENST00000682617.1:c.1841G>A	ENSP00000507912.1:p.Arg614Lys
ENST00000682826.1:c.*1017G>A	ENSP00000507274.1:n.*1017G>A
ENST00000682909.1:n.3743G>A
ENST00000683277.1:n.3348G>A
ENST00000683407.1:n.1711G>A
ENST00000683962.1:c.*1397G>A	ENSP00000506854.1:n.*1397G>A
ENST00000311895.8:c.1703G>A MANE Select	ENSP00000310520.7:p.Arg568Lys
ENST00000311895.7:c.1703G>A	ENSP00000310520.7:p.Arg568Lys
ENST00000389138.7:n.980G>A
NM_005236.2:c.1703G>A , LRG_463t1:c.1703G>A	NP_005227.1:p.Arg568Lys
XM_011522424.1:c.1841G>A	XP_011520726.1:p.Arg614Lys
XM_011522425.1:c.1160G>A	XP_011520727.1:p.Arg387Lys
XM_011522426.1:c.914G>A	XP_011520728.1:p.Arg305Lys
XM_011522427.1:c.353G>A	XP_011520729.1:p.Arg118Lys
XR_932805.1:n.1862G>A
XM_011522424.3:c.1841G>A	XP_011520726.1:p.Arg614Lys
XM_017023043.2:c.914G>A	XP_016878532.1:p.Arg305Lys
NM_005236.3:c.1703G>A MANE Select	NP_005227.1:p.Arg568Lys