Canonical Allele Identifier: CA394812693

Gene: ERCC4

Linked Data

• COSMIC: COSM5046852
• MyVariant Identifiers: chr16:g.14029563G>A (hg19) ; chr16:g.13935706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935706G>A , CM000678.2:g.13935706G>A	GRCh38
NC_000016.9:g.14029563G>A , CM000678.1:g.14029563G>A	GRCh37
NC_000016.8:g.13937064G>A	NCBI36
NG_011442.1:g.20550G>A , LRG_463:g.20550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1852G>A
ENST00000682617.1:c.1912G>A	ENSP00000507912.1:p.Glu638Lys
ENST00000682826.1:c.*1088G>A	ENSP00000507274.1:n.*1088G>A
ENST00000682909.1:n.3814G>A
ENST00000683277.1:n.3419G>A
ENST00000683407.1:n.1782G>A
ENST00000683962.1:c.*1468G>A	ENSP00000506854.1:n.*1468G>A
ENST00000311895.8:c.1774G>A MANE Select	ENSP00000310520.7:p.Glu592Lys
ENST00000311895.7:c.1774G>A	ENSP00000310520.7:p.Glu592Lys
ENST00000389138.7:n.1051G>A
NM_005236.2:c.1774G>A , LRG_463t1:c.1774G>A	NP_005227.1:p.Glu592Lys
XM_011522424.1:c.1912G>A	XP_011520726.1:p.Glu638Lys
XM_011522425.1:c.1231G>A	XP_011520727.1:p.Glu411Lys
XM_011522426.1:c.985G>A	XP_011520728.1:p.Glu329Lys
XM_011522427.1:c.424G>A	XP_011520729.1:p.Glu142Lys
XR_932805.1:n.1933G>A
XM_011522424.3:c.1912G>A	XP_011520726.1:p.Glu638Lys
XM_017023043.2:c.985G>A	XP_016878532.1:p.Glu329Lys
NM_005236.3:c.1774G>A MANE Select	NP_005227.1:p.Glu592Lys