Canonical Allele Identifier: CA7910509

Gene: ERCC4

Linked Data

• dbSNP Id: rs759296999
• ExAC: 16:14029457 G / A
• gnomAD v3: 16-13935600-G-A
• gnomAD v4: 16-13935600-G-A
• MyVariant Identifiers: chr16:g.14029457G>A (hg19) ; chr16:g.13935600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935600G>A , CM000678.2:g.13935600G>A	GRCh38
NC_000016.9:g.14029457G>A , CM000678.1:g.14029457G>A	GRCh37
NC_000016.8:g.13936958G>A	NCBI36
NG_011442.1:g.20444G>A , LRG_463:g.20444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1746G>A
ENST00000682617.1:c.1806G>A	ENSP00000507912.1:p.Pro602=
ENST00000682826.1:c.*982G>A	ENSP00000507274.1:n.*982G>A
ENST00000682909.1:n.3708G>A
ENST00000683277.1:n.3313G>A
ENST00000683407.1:n.1676G>A
ENST00000683962.1:c.*1362G>A	ENSP00000506854.1:n.*1362G>A
ENST00000311895.8:c.1668G>A MANE Select	ENSP00000310520.7:p.Pro556=
ENST00000311895.7:c.1668G>A	ENSP00000310520.7:p.Pro556=
ENST00000389138.7:n.945G>A
NM_005236.2:c.1668G>A , LRG_463t1:c.1668G>A	NP_005227.1:p.Pro556=
XM_011522424.1:c.1806G>A	XP_011520726.1:p.Pro602=
XM_011522425.1:c.1125G>A	XP_011520727.1:p.Pro375=
XM_011522426.1:c.879G>A	XP_011520728.1:p.Pro293=
XM_011522427.1:c.318G>A	XP_011520729.1:p.Pro106=
XR_932805.1:n.1827G>A
XM_011522424.3:c.1806G>A	XP_011520726.1:p.Pro602=
XM_017023043.2:c.879G>A	XP_016878532.1:p.Pro293=
NM_005236.3:c.1668G>A MANE Select	NP_005227.1:p.Pro556=