Canonical Allele Identifier: CA7910429

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935183T>A , CM000678.2:g.13935183T>A	GRCh38
NC_000016.9:g.14029040T>A , CM000678.1:g.14029040T>A	GRCh37
NC_000016.8:g.13936541T>A	NCBI36
NG_011442.1:g.20027T>A , LRG_463:g.20027T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.1251T>A MANE Select	NP_005227.1:p.Cys417Ter
ENST00000311895.8:c.1251T>A MANE Select	ENSP00000310520.7:p.Cys417Ter
NM_005236.2:c.1251T>A , LRG_463t1:c.1251T>A	NP_005227.1:p.Cys417Ter
ENST00000311895.7:c.1251T>A	ENSP00000310520.7:p.Cys417Ter
ENST00000389138.7:n.528T>A
ENST00000573018.1:n.319T>A
ENST00000682568.1:n.1329T>A
ENST00000682617.1:c.1389T>A	ENSP00000507912.1:p.Cys463Ter
ENST00000682826.1:c.*565T>A	ENSP00000507274.1:n.*565T>A
ENST00000682909.1:n.3291T>A
ENST00000683277.1:n.2896T>A
ENST00000683407.1:n.1259T>A
ENST00000683962.1:c.*945T>A	ENSP00000506854.1:n.*945T>A
XM_011522424.1:c.1389T>A	XP_011520726.1:p.Cys463Ter
XM_011522424.3:c.1389T>A	XP_011520726.1:p.Cys463Ter
XM_011522425.1:c.708T>A	XP_011520727.1:p.Cys236Ter
XM_011522426.1:c.462T>A	XP_011520728.1:p.Cys154Ter
XM_011522427.1:c.-100T>A	XP_011520729.1:n.-100T>A
XM_017023043.2:c.462T>A	XP_016878532.1:p.Cys154Ter
XR_932805.1:n.1410T>A