Canonical Allele Identifier: CA394817235

Gene: ERCC4

Linked Data

• dbSNP Id: rs1416604502
• gnomAD v2: 16-14038582-A-T
• gnomAD v4: 16-13944725-A-T
• MyVariant Identifiers: chr16:g.14038582A>T (hg19) ; chr16:g.13944725A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944725A>T , CM000678.2:g.13944725A>T	GRCh38
NC_000016.9:g.14038582A>T , CM000678.1:g.14038582A>T	GRCh37
NC_000016.8:g.13946083A>T	NCBI36
NG_011442.1:g.29569A>T , LRG_463:g.29569A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2045A>T	ENSP00000507912.1:p.Glu682Val
ENST00000683962.1:c.*1601A>T	ENSP00000506854.1:n.*1601A>T
ENST00000311895.8:c.1907A>T MANE Select	ENSP00000310520.7:p.Glu636Val
ENST00000311895.7:c.1907A>T	ENSP00000310520.7:p.Glu636Val
ENST00000389138.7:n.1184A>T
ENST00000462862.1:c.220A>T	ENSP00000461322.1:n.220A>T
NM_005236.2:c.1907A>T , LRG_463t1:c.1907A>T	NP_005227.1:p.Glu636Val
XM_011522424.1:c.2045A>T	XP_011520726.1:p.Glu682Val
XM_011522425.1:c.1364A>T	XP_011520727.1:p.Glu455Val
XM_011522426.1:c.1118A>T	XP_011520728.1:p.Glu373Val
XM_011522427.1:c.557A>T	XP_011520729.1:p.Glu186Val
XR_932805.1:n.2066A>T
XM_011522424.3:c.2045A>T	XP_011520726.1:p.Glu682Val
XM_017023043.2:c.1118A>T	XP_016878532.1:p.Glu373Val
NM_005236.3:c.1907A>T MANE Select	NP_005227.1:p.Glu636Val