Canonical Allele Identifier: CA394818101

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141617119
• gnomAD v4: 16-13944811-G-A
• MyVariant Identifiers: chr16:g.14038668G>A (hg19) ; chr16:g.13944811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944811G>A , CM000678.2:g.13944811G>A	GRCh38
NC_000016.9:g.14038668G>A , CM000678.1:g.14038668G>A	GRCh37
NC_000016.8:g.13946169G>A	NCBI36
NG_011442.1:g.29655G>A , LRG_463:g.29655G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2131G>A	ENSP00000507912.1:p.Val711Ile
ENST00000683962.1:c.*1687G>A	ENSP00000506854.1:n.*1687G>A
ENST00000311895.8:c.1993G>A MANE Select	ENSP00000310520.7:p.Val665Ile
ENST00000311895.7:c.1993G>A	ENSP00000310520.7:p.Val665Ile
ENST00000389138.7:n.1270G>A
ENST00000462862.1:c.306G>A	ENSP00000461322.1:n.306G>A
NM_005236.2:c.1993G>A , LRG_463t1:c.1993G>A	NP_005227.1:p.Val665Ile
XM_011522424.1:c.2131G>A	XP_011520726.1:p.Val711Ile
XM_011522425.1:c.1450G>A	XP_011520727.1:p.Val484Ile
XM_011522426.1:c.1204G>A	XP_011520728.1:p.Val402Ile
XM_011522427.1:c.643G>A	XP_011520729.1:p.Val215Ile
XR_932805.1:n.2152G>A
XM_011522424.3:c.2131G>A	XP_011520726.1:p.Val711Ile
XM_017023043.2:c.1204G>A	XP_016878532.1:p.Val402Ile
NM_005236.3:c.1993G>A MANE Select	NP_005227.1:p.Val665Ile