Canonical Allele Identifier: CA2209073377

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935626C= , CM000678.2:g.13935626C=	GRCh38
NC_000016.9:g.14029483C= , CM000678.1:g.14029483C=	GRCh37
NC_000016.8:g.13936984C=	NCBI36
NG_011442.1:g.20470C= , LRG_463:g.20470C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1772C=
ENST00000682617.1:c.1832C=	ENSP00000507912.1:p.Ala611=
ENST00000682826.1:c.*1008C=	ENSP00000507274.1:n.*1008C=
ENST00000682909.1:n.3734C=
ENST00000683277.1:n.3339C=
ENST00000683407.1:n.1702C=
ENST00000683962.1:c.*1388C=	ENSP00000506854.1:n.*1388C=
ENST00000311895.8:c.1694C= MANE Select	ENSP00000310520.7:p.Ala565=
ENST00000311895.7:c.1694C=	ENSP00000310520.7:p.Ala565=
ENST00000389138.7:n.971C=
NM_005236.2:c.1694C= , LRG_463t1:c.1694C=	NP_005227.1:p.Ala565=
XM_011522424.1:c.1832C=	XP_011520726.1:p.Ala611=
XM_011522425.1:c.1151C=	XP_011520727.1:p.Ala384=
XM_011522426.1:c.905C=	XP_011520728.1:p.Ala302=
XM_011522427.1:c.344C=	XP_011520729.1:p.Ala115=
XR_932805.1:n.1853C=
XM_011522424.3:c.1832C=	XP_011520726.1:p.Ala611=
XM_017023043.2:c.905C=	XP_016878532.1:p.Ala302=
NM_005236.3:c.1694C= MANE Select	NP_005227.1:p.Ala565=