Canonical Allele Identifier: CA394811847

Gene: ERCC4

Linked Data

• dbSNP Id: rs1260544722
• gnomAD v2: 16-14029392-G-C
• gnomAD v4: 16-13935535-G-C
• MyVariant Identifiers: chr16:g.14029392G>C (hg19) ; chr16:g.13935535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935535G>C , CM000678.2:g.13935535G>C	GRCh38
NC_000016.9:g.14029392G>C , CM000678.1:g.14029392G>C	GRCh37
NC_000016.8:g.13936893G>C	NCBI36
NG_011442.1:g.20379G>C , LRG_463:g.20379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1681G>C
ENST00000682617.1:c.1741G>C	ENSP00000507912.1:p.Asp581His
ENST00000682826.1:c.*917G>C	ENSP00000507274.1:n.*917G>C
ENST00000682909.1:n.3643G>C
ENST00000683277.1:n.3248G>C
ENST00000683407.1:n.1611G>C
ENST00000683962.1:c.*1297G>C	ENSP00000506854.1:n.*1297G>C
ENST00000311895.8:c.1603G>C MANE Select	ENSP00000310520.7:p.Asp535His
ENST00000311895.7:c.1603G>C	ENSP00000310520.7:p.Asp535His
ENST00000389138.7:n.880G>C
NM_005236.2:c.1603G>C , LRG_463t1:c.1603G>C	NP_005227.1:p.Asp535His
XM_011522424.1:c.1741G>C	XP_011520726.1:p.Asp581His
XM_011522425.1:c.1060G>C	XP_011520727.1:p.Asp354His
XM_011522426.1:c.814G>C	XP_011520728.1:p.Asp272His
XM_011522427.1:c.253G>C	XP_011520729.1:p.Asp85His
XR_932805.1:n.1762G>C
XM_011522424.3:c.1741G>C	XP_011520726.1:p.Asp581His
XM_017023043.2:c.814G>C	XP_016878532.1:p.Asp272His
NM_005236.3:c.1603G>C MANE Select	NP_005227.1:p.Asp535His