Canonical Allele Identifier: CA2230762972

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483961G= , CM000678.2:g.70483961G=	GRCh38
NC_000016.9:g.70517864G= , CM000678.1:g.70517864G=	GRCh37
NC_000016.8:g.69075365G=	NCBI36
NG_027529.1:g.44594C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1795C=	ENSP00000461912.2:n.*1795C=
ENST00000703106.1:c.1764C=	ENSP00000515173.1:n.1764C=
ENST00000703107.1:c.*1648C=	ENSP00000515174.1:n.*1648C=
ENST00000703108.1:c.*167C=	ENSP00000515175.1:n.*167C=
ENST00000703109.1:c.1752C=	ENSP00000515176.1:p.Cys584=
ENST00000703110.1:c.*1221C=	ENSP00000515177.1:n.*1221C=
ENST00000703111.1:n.1726C=
ENST00000703112.1:n.2492C=
ENST00000703113.1:c.*1132C=	ENSP00000515178.1:n.*1132C=
ENST00000703114.1:c.*368C=	ENSP00000515179.1:n.*368C=
ENST00000703115.1:c.832C=	ENSP00000515180.1:n.832C=
ENST00000323786.10:c.1719C= MANE Select	ENSP00000315775.5:p.Cys573=
ENST00000564415.6:c.*1499C=	ENSP00000456653.2:n.*1499C=
ENST00000674443.1:c.1644C=	ENSP00000501405.1:p.Cys548=
ENST00000323786.9:c.1719C=	ENSP00000315775.5:p.Cys573=
ENST00000393612.8:c.1656C=	ENSP00000377236.5:p.Cys552=
ENST00000482252.5:c.1866C=	ENSP00000432802.1:n.1866C=
ENST00000526700.5:n.895C=
ENST00000530314.5:n.2398C=
ENST00000564315.1:n.179C=
ENST00000564415.5:c.*1499C=	ENSP00000456653.1:n.*1499C=
NM_001195139.1:c.1656C=	NP_001182068.1:p.Cys552=
NM_015386.2:c.1719C=	NP_056201.2:p.Cys573=
XM_011522981.1:c.1293C=	XP_011521283.1:p.Cys431=
XR_933266.1:n.1665C=
XR_933267.1:n.1665C=
XM_011522981.3:c.1293C=	XP_011521283.1:p.Cys431=
XM_024450224.1:c.738C=	XP_024305992.1:p.Cys246=
XR_001751889.1:n.1602C=
XR_933266.2:n.1665C=
NM_015386.3:c.1719C= MANE Select	NP_056201.2:p.Cys573=
NM_001195139.2:c.1644C=	NP_001182068.2:p.Cys548=
NM_001365426.1:c.1293C=	NP_001352355.1:p.Cys431=
NR_158212.1:n.1678C=