Canonical Allele Identifier: CA394821840

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947709G>T , CM000678.2:g.13947709G>T	GRCh38
NC_000016.9:g.14041566G>T , CM000678.1:g.14041566G>T	GRCh37
NC_000016.8:g.13949067G>T	NCBI36
NG_011442.1:g.32553G>T , LRG_463:g.32553G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2113G>T MANE Select	NP_005227.1:p.Asp705Tyr
ENST00000311895.8:c.2113G>T MANE Select	ENSP00000310520.7:p.Asp705Tyr
NM_005236.2:c.2113G>T , LRG_463t1:c.2113G>T	NP_005227.1:p.Asp705Tyr
ENST00000311895.7:c.2113G>T	ENSP00000310520.7:p.Asp705Tyr
ENST00000389138.7:n.1390G>T
ENST00000462862.1:c.426G>T	ENSP00000461322.1:n.426G>T
ENST00000682617.1:c.2251G>T	ENSP00000507912.1:p.Asp751Tyr
ENST00000683962.1:c.*1807G>T	ENSP00000506854.1:n.*1807G>T
XM_011522424.1:c.2251G>T	XP_011520726.1:p.Asp751Tyr
XM_011522424.3:c.2251G>T	XP_011520726.1:p.Asp751Tyr
XM_011522425.1:c.1570G>T	XP_011520727.1:p.Asp524Tyr
XM_011522426.1:c.1324G>T	XP_011520728.1:p.Asp442Tyr
XM_011522427.1:c.763G>T	XP_011520729.1:p.Asp255Tyr
XM_017023043.2:c.1324G>T	XP_016878532.1:p.Asp442Tyr
XR_932805.1:n.2272G>T