Canonical Allele Identifier: CA394821254

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947659T>A , CM000678.2:g.13947659T>A	GRCh38
NC_000016.9:g.14041516T>A , CM000678.1:g.14041516T>A	GRCh37
NC_000016.8:g.13949017T>A	NCBI36
NG_011442.1:g.32503T>A , LRG_463:g.32503T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2063T>A MANE Select	NP_005227.1:p.Met688Lys
ENST00000311895.8:c.2063T>A MANE Select	ENSP00000310520.7:p.Met688Lys
NM_005236.2:c.2063T>A , LRG_463t1:c.2063T>A	NP_005227.1:p.Met688Lys
ENST00000311895.7:c.2063T>A	ENSP00000310520.7:p.Met688Lys
ENST00000389138.7:n.1340T>A
ENST00000462862.1:c.376T>A	ENSP00000461322.1:n.376T>A
ENST00000682617.1:c.2201T>A	ENSP00000507912.1:p.Met734Lys
ENST00000683962.1:c.*1757T>A	ENSP00000506854.1:n.*1757T>A
XM_011522424.1:c.2201T>A	XP_011520726.1:p.Met734Lys
XM_011522424.3:c.2201T>A	XP_011520726.1:p.Met734Lys
XM_011522425.1:c.1520T>A	XP_011520727.1:p.Met507Lys
XM_011522426.1:c.1274T>A	XP_011520728.1:p.Met425Lys
XM_011522427.1:c.713T>A	XP_011520729.1:p.Met238Lys
XM_017023043.2:c.1274T>A	XP_016878532.1:p.Met425Lys
XR_932805.1:n.2222T>A