Canonical Allele Identifier: CA2230762938

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483934T= , CM000678.2:g.70483934T=	GRCh38
NC_000016.9:g.70517837T= , CM000678.1:g.70517837T=	GRCh37
NC_000016.8:g.69075338T=	NCBI36
NG_027529.1:g.44621A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1822A=	ENSP00000461912.2:n.*1822A=
ENST00000703106.1:c.1791A=	ENSP00000515173.1:n.1791A=
ENST00000703107.1:c.*1675A=	ENSP00000515174.1:n.*1675A=
ENST00000703108.1:c.*194A=	ENSP00000515175.1:n.*194A=
ENST00000703109.1:c.1779A=	ENSP00000515176.1:p.Gly593=
ENST00000703110.1:c.*1248A=	ENSP00000515177.1:n.*1248A=
ENST00000703111.1:n.1753A=
ENST00000703112.1:n.2519A=
ENST00000703113.1:c.*1159A=	ENSP00000515178.1:n.*1159A=
ENST00000703114.1:c.*395A=	ENSP00000515179.1:n.*395A=
ENST00000703115.1:c.859A=	ENSP00000515180.1:n.859A=
ENST00000323786.10:c.1746A= MANE Select	ENSP00000315775.5:p.Gly582=
ENST00000564415.6:c.*1526A=	ENSP00000456653.2:n.*1526A=
ENST00000674443.1:c.1671A=	ENSP00000501405.1:p.Gly557=
ENST00000323786.9:c.1746A=	ENSP00000315775.5:p.Gly582=
ENST00000393612.8:c.1683A=	ENSP00000377236.5:p.Gly561=
ENST00000482252.5:c.1893A=	ENSP00000432802.1:n.1893A=
ENST00000526700.5:n.922A=
ENST00000530314.5:n.2425A=
ENST00000564315.1:n.206A=
ENST00000564415.5:c.*1526A=	ENSP00000456653.1:n.*1526A=
NM_001195139.1:c.1683A=	NP_001182068.1:p.Gly561=
NM_015386.2:c.1746A=	NP_056201.2:p.Gly582=
XM_011522981.1:c.1320A=	XP_011521283.1:p.Gly440=
XR_933266.1:n.1692A=
XR_933267.1:n.1692A=
XM_011522981.3:c.1320A=	XP_011521283.1:p.Gly440=
XM_024450224.1:c.765A=	XP_024305992.1:p.Gly255=
XR_001751889.1:n.1629A=
XR_933266.2:n.1692A=
NM_015386.3:c.1746A= MANE Select	NP_056201.2:p.Gly582=
NM_001195139.2:c.1671A=	NP_001182068.2:p.Gly557=
NM_001365426.1:c.1320A=	NP_001352355.1:p.Gly440=
NR_158212.1:n.1705A=