Canonical Allele Identifier: CA7910625

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1319884
• ClinVar RCV Id: RCV003238130 ; RCV003772105
• dbSNP Id: rs756811179
• ExAC: 16:14038651 G / A
• gnomAD v2: 16-14038651-G-A
• gnomAD v3: 16-13944794-G-A
• gnomAD v4: 16-13944794-G-A
• MyVariant Identifiers: chr16:g.14038651G>A (hg19) ; chr16:g.13944794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944794G>A , CM000678.2:g.13944794G>A	GRCh38
NC_000016.9:g.14038651G>A , CM000678.1:g.14038651G>A	GRCh37
NC_000016.8:g.13946152G>A	NCBI36
NG_011442.1:g.29638G>A , LRG_463:g.29638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2114G>A	ENSP00000507912.1:p.Gly705Asp
ENST00000683962.1:c.*1670G>A	ENSP00000506854.1:n.*1670G>A
ENST00000311895.8:c.1976G>A MANE Select	ENSP00000310520.7:p.Gly659Asp
ENST00000311895.7:c.1976G>A	ENSP00000310520.7:p.Gly659Asp
ENST00000389138.7:n.1253G>A
ENST00000462862.1:c.289G>A	ENSP00000461322.1:n.289G>A
NM_005236.2:c.1976G>A , LRG_463t1:c.1976G>A	NP_005227.1:p.Gly659Asp
XM_011522424.1:c.2114G>A	XP_011520726.1:p.Gly705Asp
XM_011522425.1:c.1433G>A	XP_011520727.1:p.Gly478Asp
XM_011522426.1:c.1187G>A	XP_011520728.1:p.Gly396Asp
XM_011522427.1:c.626G>A	XP_011520729.1:p.Gly209Asp
XR_932805.1:n.2135G>A
XM_011522424.3:c.2114G>A	XP_011520726.1:p.Gly705Asp
XM_017023043.2:c.1187G>A	XP_016878532.1:p.Gly396Asp
NM_005236.3:c.1976G>A MANE Select	NP_005227.1:p.Gly659Asp