Canonical Allele Identifier: CA394821812

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2929687
• ClinVar RCV Id: RCV003784853
• gnomAD v4: 16-13947706-A-G
• MyVariant Identifiers: chr16:g.14041563A>G (hg19) ; chr16:g.13947706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947706A>G , CM000678.2:g.13947706A>G	GRCh38
NC_000016.9:g.14041563A>G , CM000678.1:g.14041563A>G	GRCh37
NC_000016.8:g.13949064A>G	NCBI36
NG_011442.1:g.32550A>G , LRG_463:g.32550A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2248A>G	ENSP00000507912.1:p.Ile750Val
ENST00000683962.1:c.*1804A>G	ENSP00000506854.1:n.*1804A>G
ENST00000311895.8:c.2110A>G MANE Select	ENSP00000310520.7:p.Ile704Val
ENST00000311895.7:c.2110A>G	ENSP00000310520.7:p.Ile704Val
ENST00000389138.7:n.1387A>G
ENST00000462862.1:c.423A>G	ENSP00000461322.1:n.423A>G
NM_005236.2:c.2110A>G , LRG_463t1:c.2110A>G	NP_005227.1:p.Ile704Val
XM_011522424.1:c.2248A>G	XP_011520726.1:p.Ile750Val
XM_011522425.1:c.1567A>G	XP_011520727.1:p.Ile523Val
XM_011522426.1:c.1321A>G	XP_011520728.1:p.Ile441Val
XM_011522427.1:c.760A>G	XP_011520729.1:p.Ile254Val
XR_932805.1:n.2269A>G
XM_011522424.3:c.2248A>G	XP_011520726.1:p.Ile750Val
XM_017023043.2:c.1321A>G	XP_016878532.1:p.Ile441Val
NM_005236.3:c.2110A>G MANE Select	NP_005227.1:p.Ile704Val