Canonical Allele Identifier: CA2230762977

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483965T= , CM000678.2:g.70483965T=	GRCh38
NC_000016.9:g.70517868T= , CM000678.1:g.70517868T=	GRCh37
NC_000016.8:g.69075369T=	NCBI36
NG_027529.1:g.44590A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1791A=	ENSP00000461912.2:n.*1791A=
ENST00000703106.1:c.1760A=	ENSP00000515173.1:n.1760A=
ENST00000703107.1:c.*1644A=	ENSP00000515174.1:n.*1644A=
ENST00000703108.1:c.*163A=	ENSP00000515175.1:n.*163A=
ENST00000703109.1:c.1748A=	ENSP00000515176.1:p.Asp583=
ENST00000703110.1:c.*1217A=	ENSP00000515177.1:n.*1217A=
ENST00000703111.1:n.1722A=
ENST00000703112.1:n.2488A=
ENST00000703113.1:c.*1128A=	ENSP00000515178.1:n.*1128A=
ENST00000703114.1:c.*364A=	ENSP00000515179.1:n.*364A=
ENST00000703115.1:c.828A=	ENSP00000515180.1:n.828A=
ENST00000323786.10:c.1715A= MANE Select	ENSP00000315775.5:p.Asp572=
ENST00000564415.6:c.*1495A=	ENSP00000456653.2:n.*1495A=
ENST00000674443.1:c.1640A=	ENSP00000501405.1:p.Asp547=
ENST00000323786.9:c.1715A=	ENSP00000315775.5:p.Asp572=
ENST00000393612.8:c.1652A=	ENSP00000377236.5:p.Asp551=
ENST00000482252.5:c.1862A=	ENSP00000432802.1:n.1862A=
ENST00000526700.5:n.891A=
ENST00000530314.5:n.2394A=
ENST00000564315.1:n.175A=
ENST00000564415.5:c.*1495A=	ENSP00000456653.1:n.*1495A=
NM_001195139.1:c.1652A=	NP_001182068.1:p.Asp551=
NM_015386.2:c.1715A=	NP_056201.2:p.Asp572=
XM_011522981.1:c.1289A=	XP_011521283.1:p.Asp430=
XR_933266.1:n.1661A=
XR_933267.1:n.1661A=
XM_011522981.3:c.1289A=	XP_011521283.1:p.Asp430=
XM_024450224.1:c.734A=	XP_024305992.1:p.Asp245=
XR_001751889.1:n.1598A=
XR_933266.2:n.1661A=
NM_015386.3:c.1715A= MANE Select	NP_056201.2:p.Asp572=
NM_001195139.2:c.1640A=	NP_001182068.2:p.Asp547=
NM_001365426.1:c.1289A=	NP_001352355.1:p.Asp430=
NR_158212.1:n.1674A=