Canonical Allele Identifier: CA394817676

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038626G>A (hg19) ; chr16:g.13944769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944769G>A , CM000678.2:g.13944769G>A	GRCh38
NC_000016.9:g.14038626G>A , CM000678.1:g.14038626G>A	GRCh37
NC_000016.8:g.13946127G>A	NCBI36
NG_011442.1:g.29613G>A , LRG_463:g.29613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2089G>A	ENSP00000507912.1:p.Glu697Lys
ENST00000683962.1:c.*1645G>A	ENSP00000506854.1:n.*1645G>A
ENST00000311895.8:c.1951G>A MANE Select	ENSP00000310520.7:p.Glu651Lys
ENST00000311895.7:c.1951G>A	ENSP00000310520.7:p.Glu651Lys
ENST00000389138.7:n.1228G>A
ENST00000462862.1:c.264G>A	ENSP00000461322.1:n.264G>A
NM_005236.2:c.1951G>A , LRG_463t1:c.1951G>A	NP_005227.1:p.Glu651Lys
XM_011522424.1:c.2089G>A	XP_011520726.1:p.Glu697Lys
XM_011522425.1:c.1408G>A	XP_011520727.1:p.Glu470Lys
XM_011522426.1:c.1162G>A	XP_011520728.1:p.Glu388Lys
XM_011522427.1:c.601G>A	XP_011520729.1:p.Glu201Lys
XR_932805.1:n.2110G>A
XM_011522424.3:c.2089G>A	XP_011520726.1:p.Glu697Lys
XM_017023043.2:c.1162G>A	XP_016878532.1:p.Glu388Lys
NM_005236.3:c.1951G>A MANE Select	NP_005227.1:p.Glu651Lys