Canonical Allele Identifier: CA2230762930

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483927G= , CM000678.2:g.70483927G=	GRCh38
NC_000016.9:g.70517830G= , CM000678.1:g.70517830G=	GRCh37
NC_000016.8:g.69075331G=	NCBI36
NG_027529.1:g.44628C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1829C=	ENSP00000461912.2:n.*1829C=
ENST00000703106.1:c.1798C=	ENSP00000515173.1:n.1798C=
ENST00000703107.1:c.*1682C=	ENSP00000515174.1:n.*1682C=
ENST00000703108.1:c.*201C=	ENSP00000515175.1:n.*201C=
ENST00000703109.1:c.1786C=	ENSP00000515176.1:p.Gln596=
ENST00000703110.1:c.*1255C=	ENSP00000515177.1:n.*1255C=
ENST00000703111.1:n.1760C=
ENST00000703112.1:n.2526C=
ENST00000703113.1:c.*1166C=	ENSP00000515178.1:n.*1166C=
ENST00000703114.1:c.*402C=	ENSP00000515179.1:n.*402C=
ENST00000703115.1:c.866C=	ENSP00000515180.1:n.866C=
ENST00000323786.10:c.1753C= MANE Select	ENSP00000315775.5:p.Gln585=
ENST00000564415.6:c.*1533C=	ENSP00000456653.2:n.*1533C=
ENST00000674443.1:c.1678C=	ENSP00000501405.1:p.Gln560=
ENST00000323786.9:c.1753C=	ENSP00000315775.5:p.Gln585=
ENST00000393612.8:c.1690C=	ENSP00000377236.5:p.Gln564=
ENST00000482252.5:c.1900C=	ENSP00000432802.1:n.1900C=
ENST00000526700.5:n.929C=
ENST00000530314.5:n.2432C=
ENST00000564315.1:n.213C=
ENST00000564415.5:c.*1533C=	ENSP00000456653.1:n.*1533C=
NM_001195139.1:c.1690C=	NP_001182068.1:p.Gln564=
NM_015386.2:c.1753C=	NP_056201.2:p.Gln585=
XM_011522981.1:c.1327C=	XP_011521283.1:p.Gln443=
XR_933266.1:n.1699C=
XR_933267.1:n.1699C=
XM_011522981.3:c.1327C=	XP_011521283.1:p.Gln443=
XM_024450224.1:c.772C=	XP_024305992.1:p.Gln258=
XR_001751889.1:n.1636C=
XR_933266.2:n.1699C=
NM_015386.3:c.1753C= MANE Select	NP_056201.2:p.Gln585=
NM_001195139.2:c.1678C=	NP_001182068.2:p.Gln560=
NM_001365426.1:c.1327C=	NP_001352355.1:p.Gln443=
NR_158212.1:n.1712C=