Canonical Allele Identifier: CA394822500

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947803T>G , CM000678.2:g.13947803T>G	GRCh38
NC_000016.9:g.14041660T>G , CM000678.1:g.14041660T>G	GRCh37
NC_000016.8:g.13949161T>G	NCBI36
NG_011442.1:g.32647T>G , LRG_463:g.32647T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2207T>G MANE Select	NP_005227.1:p.Leu736Ter
ENST00000311895.8:c.2207T>G MANE Select	ENSP00000310520.7:p.Leu736Ter
NM_005236.2:c.2207T>G , LRG_463t1:c.2207T>G	NP_005227.1:p.Leu736Ter
ENST00000311895.7:c.2207T>G	ENSP00000310520.7:p.Leu736Ter
ENST00000389138.7:n.1484T>G
ENST00000462862.1:c.520T>G	ENSP00000461322.1:n.520T>G
ENST00000682617.1:c.2345T>G	ENSP00000507912.1:p.Leu782Ter
ENST00000683962.1:c.*1901T>G	ENSP00000506854.1:n.*1901T>G
XM_011522424.1:c.2345T>G	XP_011520726.1:p.Leu782Ter
XM_011522424.3:c.2345T>G	XP_011520726.1:p.Leu782Ter
XM_011522425.1:c.1664T>G	XP_011520727.1:p.Leu555Ter
XM_011522426.1:c.1418T>G	XP_011520728.1:p.Leu473Ter
XM_011522427.1:c.857T>G	XP_011520729.1:p.Leu286Ter
XM_017023043.2:c.1418T>G	XP_016878532.1:p.Leu473Ter
XR_932805.1:n.2366T>G