Canonical Allele Identifier: CA493689525

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1149792
• ClinVar RCV Id: RCV001490164
• dbSNP Id: rs2141607987
• gnomAD v4: 16-13935630-G-A
• MyVariant Identifiers: chr16:g.14029487G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935630G>A , CM000678.2:g.13935630G>A	GRCh38
NC_000016.9:g.14029487G>A , CM000678.1:g.14029487G>A	GRCh37
NC_000016.8:g.13936988G>A	NCBI36
NG_011442.1:g.20474G>A , LRG_463:g.20474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1776G>A
ENST00000682617.1:c.1836G>A	ENSP00000507912.1:p.Leu612=
ENST00000682826.1:c.*1012G>A	ENSP00000507274.1:n.*1012G>A
ENST00000682909.1:n.3738G>A
ENST00000683277.1:n.3343G>A
ENST00000683407.1:n.1706G>A
ENST00000683962.1:c.*1392G>A	ENSP00000506854.1:n.*1392G>A
ENST00000311895.8:c.1698G>A MANE Select	ENSP00000310520.7:p.Leu566=
ENST00000311895.7:c.1698G>A	ENSP00000310520.7:p.Leu566=
ENST00000389138.7:n.975G>A
NM_005236.2:c.1698G>A , LRG_463t1:c.1698G>A	NP_005227.1:p.Leu566=
XM_011522424.1:c.1836G>A	XP_011520726.1:p.Leu612=
XM_011522425.1:c.1155G>A	XP_011520727.1:p.Leu385=
XM_011522426.1:c.909G>A	XP_011520728.1:p.Leu303=
XM_011522427.1:c.348G>A	XP_011520729.1:p.Leu116=
XR_932805.1:n.1857G>A
XM_011522424.3:c.1836G>A	XP_011520726.1:p.Leu612=
XM_017023043.2:c.909G>A	XP_016878532.1:p.Leu303=
NM_005236.3:c.1698G>A MANE Select	NP_005227.1:p.Leu566=