Canonical Allele Identifier: CA394812837

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1051747
• ClinVar RCV Id: RCV001359826 ; RCV002547729
• dbSNP Id: rs1336284412
• gnomAD v2: 16-14029588-G-A
• gnomAD v4: 16-13935731-G-A
• MyVariant Identifiers: chr16:g.14029588G>A (hg19) ; chr16:g.13935731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935731G>A , CM000678.2:g.13935731G>A	GRCh38
NC_000016.9:g.14029588G>A , CM000678.1:g.14029588G>A	GRCh37
NC_000016.8:g.13937089G>A	NCBI36
NG_011442.1:g.20575G>A , LRG_463:g.20575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1877G>A
ENST00000682617.1:c.1937G>A	ENSP00000507912.1:p.Gly646Glu
ENST00000682826.1:c.*1113G>A	ENSP00000507274.1:n.*1113G>A
ENST00000682909.1:n.3839G>A
ENST00000683277.1:n.3444G>A
ENST00000683407.1:n.1807G>A
ENST00000683962.1:c.*1493G>A	ENSP00000506854.1:n.*1493G>A
ENST00000311895.8:c.1799G>A MANE Select	ENSP00000310520.7:p.Gly600Glu
ENST00000311895.7:c.1799G>A	ENSP00000310520.7:p.Gly600Glu
ENST00000389138.7:n.1076G>A
NM_005236.2:c.1799G>A , LRG_463t1:c.1799G>A	NP_005227.1:p.Gly600Glu
XM_011522424.1:c.1937G>A	XP_011520726.1:p.Gly646Glu
XM_011522425.1:c.1256G>A	XP_011520727.1:p.Gly419Glu
XM_011522426.1:c.1010G>A	XP_011520728.1:p.Gly337Glu
XM_011522427.1:c.449G>A	XP_011520729.1:p.Gly150Glu
XR_932805.1:n.1958G>A
XM_011522424.3:c.1937G>A	XP_011520726.1:p.Gly646Glu
XM_017023043.2:c.1010G>A	XP_016878532.1:p.Gly337Glu
NM_005236.3:c.1799G>A MANE Select	NP_005227.1:p.Gly600Glu