Canonical Allele Identifier: CA2209073534

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935703C= , CM000678.2:g.13935703C=	GRCh38
NC_000016.9:g.14029560C= , CM000678.1:g.14029560C=	GRCh37
NC_000016.8:g.13937061C=	NCBI36
NG_011442.1:g.20547C= , LRG_463:g.20547C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1849C=
ENST00000682617.1:c.1909C=	ENSP00000507912.1:p.Leu637=
ENST00000682826.1:c.*1085C=	ENSP00000507274.1:n.*1085C=
ENST00000682909.1:n.3811C=
ENST00000683277.1:n.3416C=
ENST00000683407.1:n.1779C=
ENST00000683962.1:c.*1465C=	ENSP00000506854.1:n.*1465C=
ENST00000311895.8:c.1771C= MANE Select	ENSP00000310520.7:p.Leu591=
ENST00000311895.7:c.1771C=	ENSP00000310520.7:p.Leu591=
ENST00000389138.7:n.1048C=
NM_005236.2:c.1771C= , LRG_463t1:c.1771C=	NP_005227.1:p.Leu591=
XM_011522424.1:c.1909C=	XP_011520726.1:p.Leu637=
XM_011522425.1:c.1228C=	XP_011520727.1:p.Leu410=
XM_011522426.1:c.982C=	XP_011520728.1:p.Leu328=
XM_011522427.1:c.421C=	XP_011520729.1:p.Leu141=
XR_932805.1:n.1930C=
XM_011522424.3:c.1909C=	XP_011520726.1:p.Leu637=
XM_017023043.2:c.982C=	XP_016878532.1:p.Leu328=
NM_005236.3:c.1771C= MANE Select	NP_005227.1:p.Leu591=