Canonical Allele Identifier: CA2209073543

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935721A= , CM000678.2:g.13935721A=	GRCh38
NC_000016.9:g.14029578A= , CM000678.1:g.14029578A=	GRCh37
NC_000016.8:g.13937079A=	NCBI36
NG_011442.1:g.20565A= , LRG_463:g.20565A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1867A=
ENST00000682617.1:c.1927A=	ENSP00000507912.1:p.Ser643=
ENST00000682826.1:c.*1103A=	ENSP00000507274.1:n.*1103A=
ENST00000682909.1:n.3829A=
ENST00000683277.1:n.3434A=
ENST00000683407.1:n.1797A=
ENST00000683962.1:c.*1483A=	ENSP00000506854.1:n.*1483A=
ENST00000311895.8:c.1789A= MANE Select	ENSP00000310520.7:p.Ser597=
ENST00000311895.7:c.1789A=	ENSP00000310520.7:p.Ser597=
ENST00000389138.7:n.1066A=
NM_005236.2:c.1789A= , LRG_463t1:c.1789A=	NP_005227.1:p.Ser597=
XM_011522424.1:c.1927A=	XP_011520726.1:p.Ser643=
XM_011522425.1:c.1246A=	XP_011520727.1:p.Ser416=
XM_011522426.1:c.1000A=	XP_011520728.1:p.Ser334=
XM_011522427.1:c.439A=	XP_011520729.1:p.Ser147=
XR_932805.1:n.1948A=
XM_011522424.3:c.1927A=	XP_011520726.1:p.Ser643=
XM_017023043.2:c.1000A=	XP_016878532.1:p.Ser334=
NM_005236.3:c.1789A= MANE Select	NP_005227.1:p.Ser597=