Canonical Allele Identifier: CA2209072974

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935406T= , CM000678.2:g.13935406T=	GRCh38
NC_000016.9:g.14029263T= , CM000678.1:g.14029263T=	GRCh37
NC_000016.8:g.13936764T=	NCBI36
NG_011442.1:g.20250T= , LRG_463:g.20250T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1552T=
ENST00000682617.1:c.1612T=	ENSP00000507912.1:p.Leu538=
ENST00000682826.1:c.*788T=	ENSP00000507274.1:n.*788T=
ENST00000682909.1:n.3514T=
ENST00000683277.1:n.3119T=
ENST00000683407.1:n.1482T=
ENST00000683962.1:c.*1168T=	ENSP00000506854.1:n.*1168T=
ENST00000311895.8:c.1474T= MANE Select	ENSP00000310520.7:p.Leu492=
ENST00000311895.7:c.1474T=	ENSP00000310520.7:p.Leu492=
ENST00000389138.7:n.751T=
NM_005236.2:c.1474T= , LRG_463t1:c.1474T=	NP_005227.1:p.Leu492=
XM_011522424.1:c.1612T=	XP_011520726.1:p.Leu538=
XM_011522425.1:c.931T=	XP_011520727.1:p.Leu311=
XM_011522426.1:c.685T=	XP_011520728.1:p.Leu229=
XM_011522427.1:c.124T=	XP_011520729.1:p.Leu42=
XR_932805.1:n.1633T=
XM_011522424.3:c.1612T=	XP_011520726.1:p.Leu538=
XM_017023043.2:c.685T=	XP_016878532.1:p.Leu229=
NM_005236.3:c.1474T= MANE Select	NP_005227.1:p.Leu492=