Canonical Allele Identifier: CA2230762970

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483960T= , CM000678.2:g.70483960T=	GRCh38
NC_000016.9:g.70517863T= , CM000678.1:g.70517863T=	GRCh37
NC_000016.8:g.69075364T=	NCBI36
NG_027529.1:g.44595A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1796A=	ENSP00000461912.2:n.*1796A=
ENST00000703106.1:c.1765A=	ENSP00000515173.1:n.1765A=
ENST00000703107.1:c.*1649A=	ENSP00000515174.1:n.*1649A=
ENST00000703108.1:c.*168A=	ENSP00000515175.1:n.*168A=
ENST00000703109.1:c.1753A=	ENSP00000515176.1:p.Thr585=
ENST00000703110.1:c.*1222A=	ENSP00000515177.1:n.*1222A=
ENST00000703111.1:n.1727A=
ENST00000703112.1:n.2493A=
ENST00000703113.1:c.*1133A=	ENSP00000515178.1:n.*1133A=
ENST00000703114.1:c.*369A=	ENSP00000515179.1:n.*369A=
ENST00000703115.1:c.833A=	ENSP00000515180.1:n.833A=
ENST00000323786.10:c.1720A= MANE Select	ENSP00000315775.5:p.Thr574=
ENST00000564415.6:c.*1500A=	ENSP00000456653.2:n.*1500A=
ENST00000674443.1:c.1645A=	ENSP00000501405.1:p.Thr549=
ENST00000323786.9:c.1720A=	ENSP00000315775.5:p.Thr574=
ENST00000393612.8:c.1657A=	ENSP00000377236.5:p.Thr553=
ENST00000482252.5:c.1867A=	ENSP00000432802.1:n.1867A=
ENST00000526700.5:n.896A=
ENST00000530314.5:n.2399A=
ENST00000564315.1:n.180A=
ENST00000564415.5:c.*1500A=	ENSP00000456653.1:n.*1500A=
NM_001195139.1:c.1657A=	NP_001182068.1:p.Thr553=
NM_015386.2:c.1720A=	NP_056201.2:p.Thr574=
XM_011522981.1:c.1294A=	XP_011521283.1:p.Thr432=
XR_933266.1:n.1666A=
XR_933267.1:n.1666A=
XM_011522981.3:c.1294A=	XP_011521283.1:p.Thr432=
XM_024450224.1:c.739A=	XP_024305992.1:p.Thr247=
XR_001751889.1:n.1603A=
XR_933266.2:n.1666A=
NM_015386.3:c.1720A= MANE Select	NP_056201.2:p.Thr574=
NM_001195139.2:c.1645A=	NP_001182068.2:p.Thr549=
NM_001365426.1:c.1294A=	NP_001352355.1:p.Thr432=
NR_158212.1:n.1679A=