Canonical Allele Identifier: CA7910327

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 259686
• ClinVar RCV Id: RCV000246561 ; RCV000318579 ; RCV001520608 ; RCV001660281 ; RCV001660282 ; RCV001689852
• dbSNP Id: rs254942
• ExAC: 16:14026007 G / A
• gnomAD v2: 16-14026007-G-A
• gnomAD v3: 16-13932150-G-A
• gnomAD v4: 16-13932150-G-A
• MyVariant Identifiers: chr16:g.14026007G>A (hg19) ; chr16:g.13932150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13932150G>A , CM000678.2:g.13932150G>A	GRCh38
NC_000016.9:g.14026007G>A , CM000678.1:g.14026007G>A	GRCh37
NC_000016.8:g.13933508G>A	NCBI36
NG_011442.1:g.16994G>A , LRG_463:g.16994G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.962-7G>A
ENST00000682568.1:n.1052-7G>A
ENST00000682617.1:c.1112-7G>A	ENSP00000507912.1:n.1112-7G>A
ENST00000682826.1:c.*288-7G>A	ENSP00000507274.1:n.*288-7G>A
ENST00000682909.1:n.3014-7G>A
ENST00000683277.1:n.2619-7G>A
ENST00000683407.1:n.982-7G>A
ENST00000683962.1:c.*668-7G>A	ENSP00000506854.1:n.*668-7G>A
ENST00000311895.8:c.974-7G>A MANE Select	ENSP00000310520.7:n.974-7G>A
ENST00000311895.7:c.974-7G>A	ENSP00000310520.7:n.974-7G>A
ENST00000389138.7:n.125G>A
ENST00000574194.1:c.501-7G>A
ENST00000575156.5:c.974-7G>A	ENSP00000459933.1:n.974-7G>A
NM_005236.2:c.974-7G>A , LRG_463t1:c.974-7G>A	NP_005227.1:n.974-7G>A
XM_011522424.1:c.1112-7G>A	XP_011520726.1:n.1112-7G>A
XM_011522425.1:c.431-7G>A	XP_011520727.1:n.431-7G>A
XM_011522426.1:c.185-7G>A	XP_011520728.1:n.185-7G>A
XR_932805.1:n.1133-7G>A
XM_011522424.3:c.1112-7G>A	XP_011520726.1:n.1112-7G>A
XM_017023043.2:c.185-7G>A	XP_016878532.1:n.185-7G>A
NM_005236.3:c.974-7G>A MANE Select	NP_005227.1:n.974-7G>A