Canonical Allele Identifier: CA7910711

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 998307
• ClinVar RCV Id: RCV001294108
• dbSNP Id: rs748870665
• ExAC: 16:14041702 G / A
• gnomAD v2: 16-14041702-G-A
• gnomAD v4: 16-13947845-G-A
• MyVariant Identifiers: chr16:g.14041702G>A (hg19) ; chr16:g.13947845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947845G>A , CM000678.2:g.13947845G>A	GRCh38
NC_000016.9:g.14041702G>A , CM000678.1:g.14041702G>A	GRCh37
NC_000016.8:g.13949203G>A	NCBI36
NG_011442.1:g.32689G>A , LRG_463:g.32689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2387G>A	ENSP00000507912.1:p.Arg796His
ENST00000683962.1:c.*1943G>A	ENSP00000506854.1:n.*1943G>A
ENST00000311895.8:c.2249G>A MANE Select	ENSP00000310520.7:p.Arg750His
ENST00000311895.7:c.2249G>A	ENSP00000310520.7:p.Arg750His
ENST00000389138.7:n.1526G>A
ENST00000462862.1:c.562G>A	ENSP00000461322.1:n.562G>A
NM_005236.2:c.2249G>A , LRG_463t1:c.2249G>A	NP_005227.1:p.Arg750His
XM_011522424.1:c.2387G>A	XP_011520726.1:p.Arg796His
XM_011522425.1:c.1706G>A	XP_011520727.1:p.Arg569His
XM_011522426.1:c.1460G>A	XP_011520728.1:p.Arg487His
XM_011522427.1:c.899G>A	XP_011520729.1:p.Arg300His
XR_932805.1:n.2408G>A
XM_011522424.3:c.2387G>A	XP_011520726.1:p.Arg796His
XM_017023043.2:c.1460G>A	XP_016878532.1:p.Arg487His
NM_005236.3:c.2249G>A MANE Select	NP_005227.1:p.Arg750His