Canonical Allele Identifier: CA2209073303

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935583C= , CM000678.2:g.13935583C=	GRCh38
NC_000016.9:g.14029440C= , CM000678.1:g.14029440C=	GRCh37
NC_000016.8:g.13936941C=	NCBI36
NG_011442.1:g.20427C= , LRG_463:g.20427C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1729C=
ENST00000682617.1:c.1789C=	ENSP00000507912.1:p.Leu597=
ENST00000682826.1:c.*965C=	ENSP00000507274.1:n.*965C=
ENST00000682909.1:n.3691C=
ENST00000683277.1:n.3296C=
ENST00000683407.1:n.1659C=
ENST00000683962.1:c.*1345C=	ENSP00000506854.1:n.*1345C=
ENST00000311895.8:c.1651C= MANE Select	ENSP00000310520.7:p.Leu551=
ENST00000311895.7:c.1651C=	ENSP00000310520.7:p.Leu551=
ENST00000389138.7:n.928C=
NM_005236.2:c.1651C= , LRG_463t1:c.1651C=	NP_005227.1:p.Leu551=
XM_011522424.1:c.1789C=	XP_011520726.1:p.Leu597=
XM_011522425.1:c.1108C=	XP_011520727.1:p.Leu370=
XM_011522426.1:c.862C=	XP_011520728.1:p.Leu288=
XM_011522427.1:c.301C=	XP_011520729.1:p.Leu101=
XR_932805.1:n.1810C=
XM_011522424.3:c.1789C=	XP_011520726.1:p.Leu597=
XM_017023043.2:c.862C=	XP_016878532.1:p.Leu288=
NM_005236.3:c.1651C= MANE Select	NP_005227.1:p.Leu551=