Canonical Allele Identifier: CA2209073103

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935478C= , CM000678.2:g.13935478C=	GRCh38
NC_000016.9:g.14029335C= , CM000678.1:g.14029335C=	GRCh37
NC_000016.8:g.13936836C=	NCBI36
NG_011442.1:g.20322C= , LRG_463:g.20322C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1624C=
ENST00000682617.1:c.1684C=	ENSP00000507912.1:p.Arg562=
ENST00000682826.1:c.*860C=	ENSP00000507274.1:n.*860C=
ENST00000682909.1:n.3586C=
ENST00000683277.1:n.3191C=
ENST00000683407.1:n.1554C=
ENST00000683962.1:c.*1240C=	ENSP00000506854.1:n.*1240C=
ENST00000311895.8:c.1546C= MANE Select	ENSP00000310520.7:p.Arg516=
ENST00000311895.7:c.1546C=	ENSP00000310520.7:p.Arg516=
ENST00000389138.7:n.823C=
NM_005236.2:c.1546C= , LRG_463t1:c.1546C=	NP_005227.1:p.Arg516=
XM_011522424.1:c.1684C=	XP_011520726.1:p.Arg562=
XM_011522425.1:c.1003C=	XP_011520727.1:p.Arg335=
XM_011522426.1:c.757C=	XP_011520728.1:p.Arg253=
XM_011522427.1:c.196C=	XP_011520729.1:p.Arg66=
XR_932805.1:n.1705C=
XM_011522424.3:c.1684C=	XP_011520726.1:p.Arg562=
XM_017023043.2:c.757C=	XP_016878532.1:p.Arg253=
NM_005236.3:c.1546C= MANE Select	NP_005227.1:p.Arg516=