Canonical Allele Identifier: CA394821356

Gene: ERCC4

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947664G>T , CM000678.2:g.13947664G>T	GRCh38
NC_000016.9:g.14041521G>T , CM000678.1:g.14041521G>T	GRCh37
NC_000016.8:g.13949022G>T	NCBI36
NG_011442.1:g.32508G>T , LRG_463:g.32508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2206G>T	ENSP00000507912.1:p.Glu736Ter
ENST00000683962.1:c.*1762G>T	ENSP00000506854.1:n.*1762G>T
ENST00000311895.8:c.2068G>T MANE Select	ENSP00000310520.7:p.Glu690Ter
ENST00000311895.7:c.2068G>T	ENSP00000310520.7:p.Glu690Ter
ENST00000389138.7:n.1345G>T
ENST00000462862.1:c.381G>T	ENSP00000461322.1:n.381G>T
NM_005236.2:c.2068G>T , LRG_463t1:c.2068G>T	NP_005227.1:p.Glu690Ter
XM_011522424.1:c.2206G>T	XP_011520726.1:p.Glu736Ter
XM_011522425.1:c.1525G>T	XP_011520727.1:p.Glu509Ter
XM_011522426.1:c.1279G>T	XP_011520728.1:p.Glu427Ter
XM_011522427.1:c.718G>T	XP_011520729.1:p.Glu240Ter
XR_932805.1:n.2227G>T
XM_011522424.3:c.2206G>T	XP_011520726.1:p.Glu736Ter
XM_017023043.2:c.1279G>T	XP_016878532.1:p.Glu427Ter
NM_005236.3:c.2068G>T MANE Select	NP_005227.1:p.Glu690Ter