Canonical Allele Identifier: CA394812491

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141608017
• gnomAD v4: 16-13935646-G-A
• MyVariant Identifiers: chr16:g.14029503G>A (hg19) ; chr16:g.13935646G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935646G>A , CM000678.2:g.13935646G>A	GRCh38
NC_000016.9:g.14029503G>A , CM000678.1:g.14029503G>A	GRCh37
NC_000016.8:g.13937004G>A	NCBI36
NG_011442.1:g.20490G>A , LRG_463:g.20490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1792G>A
ENST00000682617.1:c.1852G>A	ENSP00000507912.1:p.Glu618Lys
ENST00000682826.1:c.*1028G>A	ENSP00000507274.1:n.*1028G>A
ENST00000682909.1:n.3754G>A
ENST00000683277.1:n.3359G>A
ENST00000683407.1:n.1722G>A
ENST00000683962.1:c.*1408G>A	ENSP00000506854.1:n.*1408G>A
ENST00000311895.8:c.1714G>A MANE Select	ENSP00000310520.7:p.Glu572Lys
ENST00000311895.7:c.1714G>A	ENSP00000310520.7:p.Glu572Lys
ENST00000389138.7:n.991G>A
NM_005236.2:c.1714G>A , LRG_463t1:c.1714G>A	NP_005227.1:p.Glu572Lys
XM_011522424.1:c.1852G>A	XP_011520726.1:p.Glu618Lys
XM_011522425.1:c.1171G>A	XP_011520727.1:p.Glu391Lys
XM_011522426.1:c.925G>A	XP_011520728.1:p.Glu309Lys
XM_011522427.1:c.364G>A	XP_011520729.1:p.Glu122Lys
XR_932805.1:n.1873G>A
XM_011522424.3:c.1852G>A	XP_011520726.1:p.Glu618Lys
XM_017023043.2:c.925G>A	XP_016878532.1:p.Glu309Lys
NM_005236.3:c.1714G>A MANE Select	NP_005227.1:p.Glu572Lys