Canonical Allele Identifier: CA394812589

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032275316
• gnomAD v4: 16-13935679-G-A
• COSMIC: COSM70641
• MyVariant Identifiers: chr16:g.14029536G>A (hg19) ; chr16:g.13935679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935679G>A , CM000678.2:g.13935679G>A	GRCh38
NC_000016.9:g.14029536G>A , CM000678.1:g.14029536G>A	GRCh37
NC_000016.8:g.13937037G>A	NCBI36
NG_011442.1:g.20523G>A , LRG_463:g.20523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1825G>A
ENST00000682617.1:c.1885G>A	ENSP00000507912.1:p.Ala629Thr
ENST00000682826.1:c.*1061G>A	ENSP00000507274.1:n.*1061G>A
ENST00000682909.1:n.3787G>A
ENST00000683277.1:n.3392G>A
ENST00000683407.1:n.1755G>A
ENST00000683962.1:c.*1441G>A	ENSP00000506854.1:n.*1441G>A
ENST00000311895.8:c.1747G>A MANE Select	ENSP00000310520.7:p.Ala583Thr
ENST00000311895.7:c.1747G>A	ENSP00000310520.7:p.Ala583Thr
ENST00000389138.7:n.1024G>A
NM_005236.2:c.1747G>A , LRG_463t1:c.1747G>A	NP_005227.1:p.Ala583Thr
XM_011522424.1:c.1885G>A	XP_011520726.1:p.Ala629Thr
XM_011522425.1:c.1204G>A	XP_011520727.1:p.Ala402Thr
XM_011522426.1:c.958G>A	XP_011520728.1:p.Ala320Thr
XM_011522427.1:c.397G>A	XP_011520729.1:p.Ala133Thr
XR_932805.1:n.1906G>A
XM_011522424.3:c.1885G>A	XP_011520726.1:p.Ala629Thr
XM_017023043.2:c.958G>A	XP_016878532.1:p.Ala320Thr
NM_005236.3:c.1747G>A MANE Select	NP_005227.1:p.Ala583Thr