Canonical Allele Identifier: CA7910521

Gene: ERCC4

Linked Data

• dbSNP Id: rs755854109
• ExAC: 16:14029494 G / A
• gnomAD v2: 16-14029494-G-A
• MyVariant Identifiers: chr16:g.14029494G>A (hg19) ; chr16:g.13935637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935637G>A , CM000678.2:g.13935637G>A	GRCh38
NC_000016.9:g.14029494G>A , CM000678.1:g.14029494G>A	GRCh37
NC_000016.8:g.13936995G>A	NCBI36
NG_011442.1:g.20481G>A , LRG_463:g.20481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1783G>A
ENST00000682617.1:c.1843G>A	ENSP00000507912.1:p.Val615Ile
ENST00000682826.1:c.*1019G>A	ENSP00000507274.1:n.*1019G>A
ENST00000682909.1:n.3745G>A
ENST00000683277.1:n.3350G>A
ENST00000683407.1:n.1713G>A
ENST00000683962.1:c.*1399G>A	ENSP00000506854.1:n.*1399G>A
ENST00000311895.8:c.1705G>A MANE Select	ENSP00000310520.7:p.Val569Ile
ENST00000311895.7:c.1705G>A	ENSP00000310520.7:p.Val569Ile
ENST00000389138.7:n.982G>A
NM_005236.2:c.1705G>A , LRG_463t1:c.1705G>A	NP_005227.1:p.Val569Ile
XM_011522424.1:c.1843G>A	XP_011520726.1:p.Val615Ile
XM_011522425.1:c.1162G>A	XP_011520727.1:p.Val388Ile
XM_011522426.1:c.916G>A	XP_011520728.1:p.Val306Ile
XM_011522427.1:c.355G>A	XP_011520729.1:p.Val119Ile
XR_932805.1:n.1864G>A
XM_011522424.3:c.1843G>A	XP_011520726.1:p.Val615Ile
XM_017023043.2:c.916G>A	XP_016878532.1:p.Val306Ile
NM_005236.3:c.1705G>A MANE Select	NP_005227.1:p.Val569Ile