Canonical Allele Identifier: CA158936

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 134158
• ClinVar RCV Id: RCV000120831 ; RCV000651477 ; RCV001119237 ; RCV001357601 ; RCV001294105 ; RCV002055332 ; RCV002257433 ; RCV002515863
• dbSNP Id: rs1800068
• ExAC: 16:14029516 G / C
• gnomAD v2: 16-14029516-G-C
• gnomAD v3: 16-13935659-G-C
• gnomAD v4: 16-13935659-G-C
• MyVariant Identifiers: chr16:g.14029516G>C (hg19) ; chr16:g.13935659G>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935659G>C , CM000678.2:g.13935659G>C	GRCh38
NC_000016.9:g.14029516G>C , CM000678.1:g.14029516G>C	GRCh37
NC_000016.8:g.13937017G>C	NCBI36
NG_011442.1:g.20503G>C , LRG_463:g.20503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1805G>C
ENST00000682617.1:c.1865G>C	ENSP00000507912.1:p.Arg622Thr
ENST00000682826.1:c.*1041G>C	ENSP00000507274.1:n.*1041G>C
ENST00000682909.1:n.3767G>C
ENST00000683277.1:n.3372G>C
ENST00000683407.1:n.1735G>C
ENST00000683962.1:c.*1421G>C	ENSP00000506854.1:n.*1421G>C
ENST00000311895.8:c.1727G>C MANE Select	ENSP00000310520.7:p.Arg576Thr
ENST00000311895.7:c.1727G>C	ENSP00000310520.7:p.Arg576Thr
ENST00000389138.7:n.1004G>C
NM_005236.2:c.1727G>C , LRG_463t1:c.1727G>C	NP_005227.1:p.Arg576Thr
XM_011522424.1:c.1865G>C	XP_011520726.1:p.Arg622Thr
XM_011522425.1:c.1184G>C	XP_011520727.1:p.Arg395Thr
XM_011522426.1:c.938G>C	XP_011520728.1:p.Arg313Thr
XM_011522427.1:c.377G>C	XP_011520729.1:p.Arg126Thr
XR_932805.1:n.1886G>C
XM_011522424.3:c.1865G>C	XP_011520726.1:p.Arg622Thr
XM_017023043.2:c.938G>C	XP_016878532.1:p.Arg313Thr
NM_005236.3:c.1727G>C MANE Select	NP_005227.1:p.Arg576Thr