Canonical Allele Identifier: CA394823871

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948043T>G , CM000678.2:g.13948043T>G	GRCh38
NC_000016.9:g.14041900T>G , CM000678.1:g.14041900T>G	GRCh37
NC_000016.8:g.13949401T>G	NCBI36
NG_011442.1:g.32887T>G , LRG_463:g.32887T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2447T>G MANE Select	NP_005227.1:p.Leu816Arg
ENST00000311895.8:c.2447T>G MANE Select	ENSP00000310520.7:p.Leu816Arg
NM_005236.2:c.2447T>G , LRG_463t1:c.2447T>G	NP_005227.1:p.Leu816Arg
ENST00000311895.7:c.2447T>G	ENSP00000310520.7:p.Leu816Arg
ENST00000389138.7:n.1724T>G
ENST00000682617.1:c.2585T>G	ENSP00000507912.1:p.Leu862Arg
ENST00000683962.1:c.*2141T>G	ENSP00000506854.1:n.*2141T>G
XM_011522424.1:c.2585T>G	XP_011520726.1:p.Leu862Arg
XM_011522424.3:c.2585T>G	XP_011520726.1:p.Leu862Arg
XM_011522425.1:c.1904T>G	XP_011520727.1:p.Leu635Arg
XM_011522426.1:c.1658T>G	XP_011520728.1:p.Leu553Arg
XM_011522427.1:c.1097T>G	XP_011520729.1:p.Leu366Arg
XM_017023043.2:c.1658T>G	XP_016878532.1:p.Leu553Arg
XR_932805.1:n.2606T>G