Canonical Allele Identifier: CA7910530

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2074753
• ClinVar RCV Id: RCV002963014 ; RCV003170767 ; RCV003325242 ; RCV003146704
• dbSNP Id: rs777006157
• ExAC: 16:14029551 G / A
• gnomAD v2: 16-14029551-G-A
• gnomAD v3: 16-13935694-G-A
• gnomAD v4: 16-13935694-G-A
• MyVariant Identifiers: chr16:g.14029551G>A (hg19) ; chr16:g.13935694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935694G>A , CM000678.2:g.13935694G>A	GRCh38
NC_000016.9:g.14029551G>A , CM000678.1:g.14029551G>A	GRCh37
NC_000016.8:g.13937052G>A	NCBI36
NG_011442.1:g.20538G>A , LRG_463:g.20538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1840G>A
ENST00000682617.1:c.1900G>A	ENSP00000507912.1:p.Val634Ile
ENST00000682826.1:c.*1076G>A	ENSP00000507274.1:n.*1076G>A
ENST00000682909.1:n.3802G>A
ENST00000683277.1:n.3407G>A
ENST00000683407.1:n.1770G>A
ENST00000683962.1:c.*1456G>A	ENSP00000506854.1:n.*1456G>A
ENST00000311895.8:c.1762G>A MANE Select	ENSP00000310520.7:p.Val588Ile
ENST00000311895.7:c.1762G>A	ENSP00000310520.7:p.Val588Ile
ENST00000389138.7:n.1039G>A
NM_005236.2:c.1762G>A , LRG_463t1:c.1762G>A	NP_005227.1:p.Val588Ile
XM_011522424.1:c.1900G>A	XP_011520726.1:p.Val634Ile
XM_011522425.1:c.1219G>A	XP_011520727.1:p.Val407Ile
XM_011522426.1:c.973G>A	XP_011520728.1:p.Val325Ile
XM_011522427.1:c.412G>A	XP_011520729.1:p.Val138Ile
XR_932805.1:n.1921G>A
XM_011522424.3:c.1900G>A	XP_011520726.1:p.Val634Ile
XM_017023043.2:c.973G>A	XP_016878532.1:p.Val325Ile
NM_005236.3:c.1762G>A MANE Select	NP_005227.1:p.Val588Ile