Canonical Allele Identifier: CA394822835

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947882C>A , CM000678.2:g.13947882C>A	GRCh38
NC_000016.9:g.14041739C>A , CM000678.1:g.14041739C>A	GRCh37
NC_000016.8:g.13949240C>A	NCBI36
NG_011442.1:g.32726C>A , LRG_463:g.32726C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2286C>A MANE Select	NP_005227.1:p.Asp762Glu
ENST00000311895.8:c.2286C>A MANE Select	ENSP00000310520.7:p.Asp762Glu
NM_005236.2:c.2286C>A , LRG_463t1:c.2286C>A	NP_005227.1:p.Asp762Glu
ENST00000311895.7:c.2286C>A	ENSP00000310520.7:p.Asp762Glu
ENST00000389138.7:n.1563C>A
ENST00000462862.1:c.599C>A	ENSP00000461322.1:n.599C>A
ENST00000682617.1:c.2424C>A	ENSP00000507912.1:p.Asp808Glu
ENST00000683962.1:c.*1980C>A	ENSP00000506854.1:n.*1980C>A
XM_011522424.1:c.2424C>A	XP_011520726.1:p.Asp808Glu
XM_011522424.3:c.2424C>A	XP_011520726.1:p.Asp808Glu
XM_011522425.1:c.1743C>A	XP_011520727.1:p.Asp581Glu
XM_011522426.1:c.1497C>A	XP_011520728.1:p.Asp499Glu
XM_011522427.1:c.936C>A	XP_011520729.1:p.Asp312Glu
XM_017023043.2:c.1497C>A	XP_016878532.1:p.Asp499Glu
XR_932805.1:n.2445C>A