Canonical Allele Identifier: CA2230762908

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483916G= , CM000678.2:g.70483916G=	GRCh38
NC_000016.9:g.70517819G= , CM000678.1:g.70517819G=	GRCh37
NC_000016.8:g.69075320G=	NCBI36
NG_027529.1:g.44639C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1840C=	ENSP00000461912.2:n.*1840C=
ENST00000703106.1:c.1809C=	ENSP00000515173.1:n.1809C=
ENST00000703107.1:c.*1693C=	ENSP00000515174.1:n.*1693C=
ENST00000703108.1:c.*212C=	ENSP00000515175.1:n.*212C=
ENST00000703109.1:c.1797C=	ENSP00000515176.1:p.Ala599=
ENST00000703110.1:c.*1266C=	ENSP00000515177.1:n.*1266C=
ENST00000703111.1:n.1771C=
ENST00000703112.1:n.2537C=
ENST00000703113.1:c.*1177C=	ENSP00000515178.1:n.*1177C=
ENST00000703114.1:c.*413C=	ENSP00000515179.1:n.*413C=
ENST00000703115.1:c.877C=	ENSP00000515180.1:n.877C=
ENST00000323786.10:c.1764C= MANE Select	ENSP00000315775.5:p.Ala588=
ENST00000564415.6:c.*1544C=	ENSP00000456653.2:n.*1544C=
ENST00000674443.1:c.1689C=	ENSP00000501405.1:p.Ala563=
ENST00000323786.9:c.1764C=	ENSP00000315775.5:p.Ala588=
ENST00000393612.8:c.1701C=	ENSP00000377236.5:p.Ala567=
ENST00000482252.5:c.1911C=	ENSP00000432802.1:n.1911C=
ENST00000526700.5:n.940C=
ENST00000530314.5:n.2443C=
ENST00000564315.1:n.224C=
ENST00000564415.5:c.*1544C=	ENSP00000456653.1:n.*1544C=
NM_001195139.1:c.1701C=	NP_001182068.1:p.Ala567=
NM_015386.2:c.1764C=	NP_056201.2:p.Ala588=
XM_011522981.1:c.1338C=	XP_011521283.1:p.Ala446=
XR_933266.1:n.1710C=
XR_933267.1:n.1710C=
XM_011522981.3:c.1338C=	XP_011521283.1:p.Ala446=
XM_024450224.1:c.783C=	XP_024305992.1:p.Ala261=
XR_001751889.1:n.1647C=
XR_933266.2:n.1710C=
NM_015386.3:c.1764C= MANE Select	NP_056201.2:p.Ala588=
NM_001195139.2:c.1689C=	NP_001182068.2:p.Ala563=
NM_001365426.1:c.1338C=	NP_001352355.1:p.Ala446=
NR_158212.1:n.1723C=