Canonical Allele Identifier: CA2209082887

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948150T= , CM000678.2:g.13948150T=	GRCh38
NC_000016.9:g.14042007T= , CM000678.1:g.14042007T=	GRCh37
NC_000016.8:g.13949508T=	NCBI36
NG_011442.1:g.32994T= , LRG_463:g.32994T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2692T=	ENSP00000507912.1:p.Leu898=
ENST00000683962.1:c.*2248T=	ENSP00000506854.1:n.*2248T=
ENST00000311895.8:c.2554T= MANE Select	ENSP00000310520.7:p.Leu852=
ENST00000311895.7:c.2554T=	ENSP00000310520.7:p.Leu852=
ENST00000389138.7:n.1831T=
NM_005236.2:c.2554T= , LRG_463t1:c.2554T=	NP_005227.1:p.Leu852=
XM_011522424.1:c.2692T=	XP_011520726.1:p.Leu898=
XM_011522425.1:c.2011T=	XP_011520727.1:p.Leu671=
XM_011522426.1:c.1765T=	XP_011520728.1:p.Leu589=
XM_011522427.1:c.1204T=	XP_011520729.1:p.Leu402=
XR_932805.1:n.2713T=
XM_011522424.3:c.2692T=	XP_011520726.1:p.Leu898=
XM_017023043.2:c.1765T=	XP_016878532.1:p.Leu589=
NM_005236.3:c.2554T= MANE Select	NP_005227.1:p.Leu852=