Canonical Allele Identifier: CA394822420

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947788A>T , CM000678.2:g.13947788A>T	GRCh38
NC_000016.9:g.14041645A>T , CM000678.1:g.14041645A>T	GRCh37
NC_000016.8:g.13949146A>T	NCBI36
NG_011442.1:g.32632A>T , LRG_463:g.32632A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2192A>T MANE Select	NP_005227.1:p.Asp731Val
ENST00000311895.8:c.2192A>T MANE Select	ENSP00000310520.7:p.Asp731Val
NM_005236.2:c.2192A>T , LRG_463t1:c.2192A>T	NP_005227.1:p.Asp731Val
ENST00000311895.7:c.2192A>T	ENSP00000310520.7:p.Asp731Val
ENST00000389138.7:n.1469A>T
ENST00000462862.1:c.505A>T	ENSP00000461322.1:n.505A>T
ENST00000682617.1:c.2330A>T	ENSP00000507912.1:p.Asp777Val
ENST00000683962.1:c.*1886A>T	ENSP00000506854.1:n.*1886A>T
XM_011522424.1:c.2330A>T	XP_011520726.1:p.Asp777Val
XM_011522424.3:c.2330A>T	XP_011520726.1:p.Asp777Val
XM_011522425.1:c.1649A>T	XP_011520727.1:p.Asp550Val
XM_011522426.1:c.1403A>T	XP_011520728.1:p.Asp468Val
XM_011522427.1:c.842A>T	XP_011520729.1:p.Asp281Val
XM_017023043.2:c.1403A>T	XP_016878532.1:p.Asp468Val
XR_932805.1:n.2351A>T