Canonical Allele Identifier: CA394812612

Gene: ERCC4

Linked Data

• dbSNP Id: rs1470703896
• gnomAD v2: 16-14029541-G-T
• gnomAD v3: 16-13935684-G-T
• gnomAD v4: 16-13935684-G-T
• MyVariant Identifiers: chr16:g.14029541G>T (hg19) ; chr16:g.13935684G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935684G>T , CM000678.2:g.13935684G>T	GRCh38
NC_000016.9:g.14029541G>T , CM000678.1:g.14029541G>T	GRCh37
NC_000016.8:g.13937042G>T	NCBI36
NG_011442.1:g.20528G>T , LRG_463:g.20528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1830G>T
ENST00000682617.1:c.1890G>T	ENSP00000507912.1:p.Glu630Asp
ENST00000682826.1:c.*1066G>T	ENSP00000507274.1:n.*1066G>T
ENST00000682909.1:n.3792G>T
ENST00000683277.1:n.3397G>T
ENST00000683407.1:n.1760G>T
ENST00000683962.1:c.*1446G>T	ENSP00000506854.1:n.*1446G>T
ENST00000311895.8:c.1752G>T MANE Select	ENSP00000310520.7:p.Glu584Asp
ENST00000311895.7:c.1752G>T	ENSP00000310520.7:p.Glu584Asp
ENST00000389138.7:n.1029G>T
NM_005236.2:c.1752G>T , LRG_463t1:c.1752G>T	NP_005227.1:p.Glu584Asp
XM_011522424.1:c.1890G>T	XP_011520726.1:p.Glu630Asp
XM_011522425.1:c.1209G>T	XP_011520727.1:p.Glu403Asp
XM_011522426.1:c.963G>T	XP_011520728.1:p.Glu321Asp
XM_011522427.1:c.402G>T	XP_011520729.1:p.Glu134Asp
XR_932805.1:n.1911G>T
XM_011522424.3:c.1890G>T	XP_011520726.1:p.Glu630Asp
XM_017023043.2:c.963G>T	XP_016878532.1:p.Glu321Asp
NM_005236.3:c.1752G>T MANE Select	NP_005227.1:p.Glu584Asp