Canonical Allele Identifier: CA394823361

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947983C>G , CM000678.2:g.13947983C>G	GRCh38
NC_000016.9:g.14041840C>G , CM000678.1:g.14041840C>G	GRCh37
NC_000016.8:g.13949341C>G	NCBI36
NG_011442.1:g.32827C>G , LRG_463:g.32827C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2387C>G MANE Select	NP_005227.1:p.Pro796Arg
ENST00000311895.8:c.2387C>G MANE Select	ENSP00000310520.7:p.Pro796Arg
NM_005236.2:c.2387C>G , LRG_463t1:c.2387C>G	NP_005227.1:p.Pro796Arg
ENST00000311895.7:c.2387C>G	ENSP00000310520.7:p.Pro796Arg
ENST00000389138.7:n.1664C>G
ENST00000462862.1:c.700C>G	ENSP00000461322.1:n.700C>G
ENST00000682617.1:c.2525C>G	ENSP00000507912.1:p.Pro842Arg
ENST00000683962.1:c.*2081C>G	ENSP00000506854.1:n.*2081C>G
XM_011522424.1:c.2525C>G	XP_011520726.1:p.Pro842Arg
XM_011522424.3:c.2525C>G	XP_011520726.1:p.Pro842Arg
XM_011522425.1:c.1844C>G	XP_011520727.1:p.Pro615Arg
XM_011522426.1:c.1598C>G	XP_011520728.1:p.Pro533Arg
XM_011522427.1:c.1037C>G	XP_011520729.1:p.Pro346Arg
XM_017023043.2:c.1598C>G	XP_016878532.1:p.Pro533Arg
XR_932805.1:n.2546C>G