Canonical Allele Identifier: CA2230762866

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483867G= , CM000678.2:g.70483867G=	GRCh38
NC_000016.9:g.70517770G= , CM000678.1:g.70517770G=	GRCh37
NC_000016.8:g.69075271G=	NCBI36
NG_027529.1:g.44688C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1889C=	ENSP00000461912.2:n.*1889C=
ENST00000703106.1:c.1858C=	ENSP00000515173.1:n.1858C=
ENST00000703107.1:c.*1742C=	ENSP00000515174.1:n.*1742C=
ENST00000703108.1:c.*261C=	ENSP00000515175.1:n.*261C=
ENST00000703109.1:c.1846C=	ENSP00000515176.1:p.Arg616=
ENST00000703110.1:c.*1315C=	ENSP00000515177.1:n.*1315C=
ENST00000703111.1:n.1820C=
ENST00000703112.1:n.2586C=
ENST00000703113.1:c.*1226C=	ENSP00000515178.1:n.*1226C=
ENST00000703114.1:c.*462C=	ENSP00000515179.1:n.*462C=
ENST00000703115.1:c.926C=	ENSP00000515180.1:n.926C=
ENST00000323786.10:c.1813C= MANE Select	ENSP00000315775.5:p.Arg605=
ENST00000564415.6:c.*1593C=	ENSP00000456653.2:n.*1593C=
ENST00000674443.1:c.1738C=	ENSP00000501405.1:p.Arg580=
ENST00000323786.9:c.1813C=	ENSP00000315775.5:p.Arg605=
ENST00000393612.8:c.1750C=	ENSP00000377236.5:p.Arg584=
ENST00000482252.5:c.1960C=	ENSP00000432802.1:n.1960C=
ENST00000526700.5:n.989C=
ENST00000530314.5:n.2492C=
ENST00000564315.1:n.273C=
ENST00000564415.5:c.*1593C=	ENSP00000456653.1:n.*1593C=
NM_001195139.1:c.1750C=	NP_001182068.1:p.Arg584=
NM_015386.2:c.1813C=	NP_056201.2:p.Arg605=
XM_011522981.1:c.1387C=	XP_011521283.1:p.Arg463=
XR_933266.1:n.1759C=
XR_933267.1:n.1759C=
XM_011522981.3:c.1387C=	XP_011521283.1:p.Arg463=
XM_024450224.1:c.832C=	XP_024305992.1:p.Arg278=
XR_001751889.1:n.1696C=
XR_933266.2:n.1759C=
NM_015386.3:c.1813C= MANE Select	NP_056201.2:p.Arg605=
NM_001195139.2:c.1738C=	NP_001182068.2:p.Arg580=
NM_001365426.1:c.1387C=	NP_001352355.1:p.Arg463=
NR_158212.1:n.1772C=