Canonical Allele Identifier: CA7910512

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 853493
• ClinVar RCV Id: RCV001058309
• dbSNP Id: rs55736359
• ExAC: 16:14029473 G / A
• gnomAD v2: 16-14029473-G-A
• gnomAD v4: 16-13935616-G-A
• MyVariant Identifiers: chr16:g.14029473G>A (hg19) ; chr16:g.13935616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935616G>A , CM000678.2:g.13935616G>A	GRCh38
NC_000016.9:g.14029473G>A , CM000678.1:g.14029473G>A	GRCh37
NC_000016.8:g.13936974G>A	NCBI36
NG_011442.1:g.20460G>A , LRG_463:g.20460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1762G>A
ENST00000682617.1:c.1822G>A	ENSP00000507912.1:p.Asp608Asn
ENST00000682826.1:c.*998G>A	ENSP00000507274.1:n.*998G>A
ENST00000682909.1:n.3724G>A
ENST00000683277.1:n.3329G>A
ENST00000683407.1:n.1692G>A
ENST00000683962.1:c.*1378G>A	ENSP00000506854.1:n.*1378G>A
ENST00000311895.8:c.1684G>A MANE Select	ENSP00000310520.7:p.Asp562Asn
ENST00000311895.7:c.1684G>A	ENSP00000310520.7:p.Asp562Asn
ENST00000389138.7:n.961G>A
NM_005236.2:c.1684G>A , LRG_463t1:c.1684G>A	NP_005227.1:p.Asp562Asn
XM_011522424.1:c.1822G>A	XP_011520726.1:p.Asp608Asn
XM_011522425.1:c.1141G>A	XP_011520727.1:p.Asp381Asn
XM_011522426.1:c.895G>A	XP_011520728.1:p.Asp299Asn
XM_011522427.1:c.334G>A	XP_011520729.1:p.Asp112Asn
XR_932805.1:n.1843G>A
XM_011522424.3:c.1822G>A	XP_011520726.1:p.Asp608Asn
XM_017023043.2:c.895G>A	XP_016878532.1:p.Asp299Asn
NM_005236.3:c.1684G>A MANE Select	NP_005227.1:p.Asp562Asn