Canonical Allele Identifier: CA126688

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 16581
• ClinVar RCV Id: RCV000018049
• dbSNP Id: rs121913050
• ExAC: 16:14020487 G / C
• gnomAD v2: 16-14020487-G-C
• gnomAD v3: 16-13926630-G-C
• gnomAD v4: 16-13926630-G-C
• MyVariant Identifiers: chr16:g.14020487G>C (hg19) ; chr16:g.13926630G>C (hg38)
• PubMed: PMID:17183314

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13926630G>C , CM000678.2:g.13926630G>C	GRCh38
NC_000016.9:g.14020487G>C , CM000678.1:g.14020487G>C	GRCh37
NC_000016.8:g.13927988G>C	NCBI36
NG_011442.1:g.11474G>C , LRG_463:g.11474G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.446G>C
ENST00000682568.1:n.388G>C
ENST00000682617.1:c.596G>C	ENSP00000507912.1:p.Arg199Pro
ENST00000682826.1:c.458G>C	ENSP00000507274.1:p.Arg153Pro
ENST00000682909.1:n.2498G>C
ENST00000683277.1:n.2103G>C
ENST00000683407.1:n.466G>C
ENST00000683962.1:c.*152G>C	ENSP00000506854.1:n.*152G>C
ENST00000311895.8:c.458G>C MANE Select	ENSP00000310520.7:p.Arg153Pro
ENST00000311895.7:c.458G>C	ENSP00000310520.7:p.Arg153Pro
ENST00000574194.1:c.79G>C
ENST00000575156.5:c.458G>C	ENSP00000459933.1:p.Arg153Pro
ENST00000576348.1:n.433G>C
NM_005236.2:c.458G>C , LRG_463t1:c.458G>C	NP_005227.1:p.Arg153Pro
XM_011522424.1:c.596G>C	XP_011520726.1:p.Arg199Pro
XM_011522425.1:c.-86G>C	XP_011520727.1:n.-86G>C
XR_932805.1:n.617G>C
XM_011522424.3:c.596G>C	XP_011520726.1:p.Arg199Pro
XM_017023043.2:c.-480G>C	XP_016878532.1:n.-480G>C
NM_005236.3:c.458G>C MANE Select	NP_005227.1:p.Arg153Pro