Canonical Allele Identifier: CA2230762897

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483907G= , CM000678.2:g.70483907G=	GRCh38
NC_000016.9:g.70517810G= , CM000678.1:g.70517810G=	GRCh37
NC_000016.8:g.69075311G=	NCBI36
NG_027529.1:g.44648C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1849C=	ENSP00000461912.2:n.*1849C=
ENST00000703106.1:c.1818C=	ENSP00000515173.1:n.1818C=
ENST00000703107.1:c.*1702C=	ENSP00000515174.1:n.*1702C=
ENST00000703108.1:c.*221C=	ENSP00000515175.1:n.*221C=
ENST00000703109.1:c.1806C=	ENSP00000515176.1:p.Asp602=
ENST00000703110.1:c.*1275C=	ENSP00000515177.1:n.*1275C=
ENST00000703111.1:n.1780C=
ENST00000703112.1:n.2546C=
ENST00000703113.1:c.*1186C=	ENSP00000515178.1:n.*1186C=
ENST00000703114.1:c.*422C=	ENSP00000515179.1:n.*422C=
ENST00000703115.1:c.886C=	ENSP00000515180.1:n.886C=
ENST00000323786.10:c.1773C= MANE Select	ENSP00000315775.5:p.Asp591=
ENST00000564415.6:c.*1553C=	ENSP00000456653.2:n.*1553C=
ENST00000674443.1:c.1698C=	ENSP00000501405.1:p.Asp566=
ENST00000323786.9:c.1773C=	ENSP00000315775.5:p.Asp591=
ENST00000393612.8:c.1710C=	ENSP00000377236.5:p.Asp570=
ENST00000482252.5:c.1920C=	ENSP00000432802.1:n.1920C=
ENST00000526700.5:n.949C=
ENST00000530314.5:n.2452C=
ENST00000564315.1:n.233C=
ENST00000564415.5:c.*1553C=	ENSP00000456653.1:n.*1553C=
NM_001195139.1:c.1710C=	NP_001182068.1:p.Asp570=
NM_015386.2:c.1773C=	NP_056201.2:p.Asp591=
XM_011522981.1:c.1347C=	XP_011521283.1:p.Asp449=
XR_933266.1:n.1719C=
XR_933267.1:n.1719C=
XM_011522981.3:c.1347C=	XP_011521283.1:p.Asp449=
XM_024450224.1:c.792C=	XP_024305992.1:p.Asp264=
XR_001751889.1:n.1656C=
XR_933266.2:n.1719C=
NM_015386.3:c.1773C= MANE Select	NP_056201.2:p.Asp591=
NM_001195139.2:c.1698C=	NP_001182068.2:p.Asp566=
NM_001365426.1:c.1347C=	NP_001352355.1:p.Asp449=
NR_158212.1:n.1732C=