Canonical Allele Identifier: CA2209082692

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947749T= , CM000678.2:g.13947749T=	GRCh38
NC_000016.9:g.14041606T= , CM000678.1:g.14041606T=	GRCh37
NC_000016.8:g.13949107T=	NCBI36
NG_011442.1:g.32593T= , LRG_463:g.32593T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2291T=	ENSP00000507912.1:p.Leu764=
ENST00000683962.1:c.*1847T=	ENSP00000506854.1:n.*1847T=
ENST00000311895.8:c.2153T= MANE Select	ENSP00000310520.7:p.Leu718=
ENST00000311895.7:c.2153T=	ENSP00000310520.7:p.Leu718=
ENST00000389138.7:n.1430T=
ENST00000462862.1:c.466T=	ENSP00000461322.1:n.466T=
NM_005236.2:c.2153T= , LRG_463t1:c.2153T=	NP_005227.1:p.Leu718=
XM_011522424.1:c.2291T=	XP_011520726.1:p.Leu764=
XM_011522425.1:c.1610T=	XP_011520727.1:p.Leu537=
XM_011522426.1:c.1364T=	XP_011520728.1:p.Leu455=
XM_011522427.1:c.803T=	XP_011520729.1:p.Leu268=
XR_932805.1:n.2312T=
XM_011522424.3:c.2291T=	XP_011520726.1:p.Leu764=
XM_017023043.2:c.1364T=	XP_016878532.1:p.Leu455=
NM_005236.3:c.2153T= MANE Select	NP_005227.1:p.Leu718=