Canonical Allele Identifier: CA394822085

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041587G>A (hg19) ; chr16:g.13947730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947730G>A , CM000678.2:g.13947730G>A	GRCh38
NC_000016.9:g.14041587G>A , CM000678.1:g.14041587G>A	GRCh37
NC_000016.8:g.13949088G>A	NCBI36
NG_011442.1:g.32574G>A , LRG_463:g.32574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2272G>A	ENSP00000507912.1:p.Glu758Lys
ENST00000683962.1:c.*1828G>A	ENSP00000506854.1:n.*1828G>A
ENST00000311895.8:c.2134G>A MANE Select	ENSP00000310520.7:p.Glu712Lys
ENST00000311895.7:c.2134G>A	ENSP00000310520.7:p.Glu712Lys
ENST00000389138.7:n.1411G>A
ENST00000462862.1:c.447G>A	ENSP00000461322.1:n.447G>A
NM_005236.2:c.2134G>A , LRG_463t1:c.2134G>A	NP_005227.1:p.Glu712Lys
XM_011522424.1:c.2272G>A	XP_011520726.1:p.Glu758Lys
XM_011522425.1:c.1591G>A	XP_011520727.1:p.Glu531Lys
XM_011522426.1:c.1345G>A	XP_011520728.1:p.Glu449Lys
XM_011522427.1:c.784G>A	XP_011520729.1:p.Glu262Lys
XR_932805.1:n.2293G>A
XM_011522424.3:c.2272G>A	XP_011520726.1:p.Glu758Lys
XM_017023043.2:c.1345G>A	XP_016878532.1:p.Glu449Lys
NM_005236.3:c.2134G>A MANE Select	NP_005227.1:p.Glu712Lys