Canonical Allele Identifier: CA2209082798

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947960C= , CM000678.2:g.13947960C=	GRCh38
NC_000016.9:g.14041817C= , CM000678.1:g.14041817C=	GRCh37
NC_000016.8:g.13949318C=	NCBI36
NG_011442.1:g.32804C= , LRG_463:g.32804C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2502C=	ENSP00000507912.1:p.Leu834=
ENST00000683962.1:c.*2058C=	ENSP00000506854.1:n.*2058C=
ENST00000311895.8:c.2364C= MANE Select	ENSP00000310520.7:p.Leu788=
ENST00000311895.7:c.2364C=	ENSP00000310520.7:p.Leu788=
ENST00000389138.7:n.1641C=
ENST00000462862.1:c.677C=	ENSP00000461322.1:n.677C=
NM_005236.2:c.2364C= , LRG_463t1:c.2364C=	NP_005227.1:p.Leu788=
XM_011522424.1:c.2502C=	XP_011520726.1:p.Leu834=
XM_011522425.1:c.1821C=	XP_011520727.1:p.Leu607=
XM_011522426.1:c.1575C=	XP_011520728.1:p.Leu525=
XM_011522427.1:c.1014C=	XP_011520729.1:p.Leu338=
XR_932805.1:n.2523C=
XM_011522424.3:c.2502C=	XP_011520726.1:p.Leu834=
XM_017023043.2:c.1575C=	XP_016878532.1:p.Leu525=
NM_005236.3:c.2364C= MANE Select	NP_005227.1:p.Leu788=