Canonical Allele Identifier: CA2209073471

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935679G= , CM000678.2:g.13935679G=	GRCh38
NC_000016.9:g.14029536G= , CM000678.1:g.14029536G=	GRCh37
NC_000016.8:g.13937037G=	NCBI36
NG_011442.1:g.20523G= , LRG_463:g.20523G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1825G=
ENST00000682617.1:c.1885G=	ENSP00000507912.1:p.Ala629=
ENST00000682826.1:c.*1061G=	ENSP00000507274.1:n.*1061G=
ENST00000682909.1:n.3787G=
ENST00000683277.1:n.3392G=
ENST00000683407.1:n.1755G=
ENST00000683962.1:c.*1441G=	ENSP00000506854.1:n.*1441G=
ENST00000311895.8:c.1747G= MANE Select	ENSP00000310520.7:p.Ala583=
ENST00000311895.7:c.1747G=	ENSP00000310520.7:p.Ala583=
ENST00000389138.7:n.1024G=
NM_005236.2:c.1747G= , LRG_463t1:c.1747G=	NP_005227.1:p.Ala583=
XM_011522424.1:c.1885G=	XP_011520726.1:p.Ala629=
XM_011522425.1:c.1204G=	XP_011520727.1:p.Ala402=
XM_011522426.1:c.958G=	XP_011520728.1:p.Ala320=
XM_011522427.1:c.397G=	XP_011520729.1:p.Ala133=
XR_932805.1:n.1906G=
XM_011522424.3:c.1885G=	XP_011520726.1:p.Ala629=
XM_017023043.2:c.958G=	XP_016878532.1:p.Ala320=
NM_005236.3:c.1747G= MANE Select	NP_005227.1:p.Ala583=