Canonical Allele Identifier: CA2209082716

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947792A= , CM000678.2:g.13947792A=	GRCh38
NC_000016.9:g.14041649A= , CM000678.1:g.14041649A=	GRCh37
NC_000016.8:g.13949150A=	NCBI36
NG_011442.1:g.32636A= , LRG_463:g.32636A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2334A=	ENSP00000507912.1:p.Leu778=
ENST00000683962.1:c.*1890A=	ENSP00000506854.1:n.*1890A=
ENST00000311895.8:c.2196A= MANE Select	ENSP00000310520.7:p.Leu732=
ENST00000311895.7:c.2196A=	ENSP00000310520.7:p.Leu732=
ENST00000389138.7:n.1473A=
ENST00000462862.1:c.509A=	ENSP00000461322.1:n.509A=
NM_005236.2:c.2196A= , LRG_463t1:c.2196A=	NP_005227.1:p.Leu732=
XM_011522424.1:c.2334A=	XP_011520726.1:p.Leu778=
XM_011522425.1:c.1653A=	XP_011520727.1:p.Leu551=
XM_011522426.1:c.1407A=	XP_011520728.1:p.Leu469=
XM_011522427.1:c.846A=	XP_011520729.1:p.Leu282=
XR_932805.1:n.2355A=
XM_011522424.3:c.2334A=	XP_011520726.1:p.Leu778=
XM_017023043.2:c.1407A=	XP_016878532.1:p.Leu469=
NM_005236.3:c.2196A= MANE Select	NP_005227.1:p.Leu732=