Canonical Allele Identifier: CA2230762940

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483938A= , CM000678.2:g.70483938A=	GRCh38
NC_000016.9:g.70517841A= , CM000678.1:g.70517841A=	GRCh37
NC_000016.8:g.69075342A=	NCBI36
NG_027529.1:g.44617T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1818T=	ENSP00000461912.2:n.*1818T=
ENST00000703106.1:c.1787T=	ENSP00000515173.1:n.1787T=
ENST00000703107.1:c.*1671T=	ENSP00000515174.1:n.*1671T=
ENST00000703108.1:c.*190T=	ENSP00000515175.1:n.*190T=
ENST00000703109.1:c.1775T=	ENSP00000515176.1:p.Ile592=
ENST00000703110.1:c.*1244T=	ENSP00000515177.1:n.*1244T=
ENST00000703111.1:n.1749T=
ENST00000703112.1:n.2515T=
ENST00000703113.1:c.*1155T=	ENSP00000515178.1:n.*1155T=
ENST00000703114.1:c.*391T=	ENSP00000515179.1:n.*391T=
ENST00000703115.1:c.855T=	ENSP00000515180.1:n.855T=
ENST00000323786.10:c.1742T= MANE Select	ENSP00000315775.5:p.Ile581=
ENST00000564415.6:c.*1522T=	ENSP00000456653.2:n.*1522T=
ENST00000674443.1:c.1667T=	ENSP00000501405.1:p.Ile556=
ENST00000323786.9:c.1742T=	ENSP00000315775.5:p.Ile581=
ENST00000393612.8:c.1679T=	ENSP00000377236.5:p.Ile560=
ENST00000482252.5:c.1889T=	ENSP00000432802.1:n.1889T=
ENST00000526700.5:n.918T=
ENST00000530314.5:n.2421T=
ENST00000564315.1:n.202T=
ENST00000564415.5:c.*1522T=	ENSP00000456653.1:n.*1522T=
NM_001195139.1:c.1679T=	NP_001182068.1:p.Ile560=
NM_015386.2:c.1742T=	NP_056201.2:p.Ile581=
XM_011522981.1:c.1316T=	XP_011521283.1:p.Ile439=
XR_933266.1:n.1688T=
XR_933267.1:n.1688T=
XM_011522981.3:c.1316T=	XP_011521283.1:p.Ile439=
XM_024450224.1:c.761T=	XP_024305992.1:p.Ile254=
XR_001751889.1:n.1625T=
XR_933266.2:n.1688T=
NM_015386.3:c.1742T= MANE Select	NP_056201.2:p.Ile581=
NM_001195139.2:c.1667T=	NP_001182068.2:p.Ile556=
NM_001365426.1:c.1316T=	NP_001352355.1:p.Ile439=
NR_158212.1:n.1701T=