Canonical Allele Identifier: CA493689620

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947681T>G , CM000678.2:g.13947681T>G	GRCh38
NC_000016.9:g.14041538T>G , CM000678.1:g.14041538T>G	GRCh37
NC_000016.8:g.13949039T>G	NCBI36
NG_011442.1:g.32525T>G , LRG_463:g.32525T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2085T>G MANE Select	NP_005227.1:p.Leu695=
ENST00000311895.8:c.2085T>G MANE Select	ENSP00000310520.7:p.Leu695=
NM_005236.2:c.2085T>G , LRG_463t1:c.2085T>G	NP_005227.1:p.Leu695=
ENST00000311895.7:c.2085T>G	ENSP00000310520.7:p.Leu695=
ENST00000389138.7:n.1362T>G
ENST00000462862.1:c.398T>G	ENSP00000461322.1:n.398T>G
ENST00000682617.1:c.2223T>G	ENSP00000507912.1:p.Leu741=
ENST00000683962.1:c.*1779T>G	ENSP00000506854.1:n.*1779T>G
XM_011522424.1:c.2223T>G	XP_011520726.1:p.Leu741=
XM_011522424.3:c.2223T>G	XP_011520726.1:p.Leu741=
XM_011522425.1:c.1542T>G	XP_011520727.1:p.Leu514=
XM_011522426.1:c.1296T>G	XP_011520728.1:p.Leu432=
XM_011522427.1:c.735T>G	XP_011520729.1:p.Leu245=
XM_017023043.2:c.1296T>G	XP_016878532.1:p.Leu432=
XR_932805.1:n.2244T>G