Canonical Allele Identifier: CA2230785007

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481407G= , CM000678.2:g.70481407G=	GRCh38
NC_000016.9:g.70515310G= , CM000678.1:g.70515310G=	GRCh37
NC_000016.8:g.69072811G=	NCBI36
NG_027529.1:g.47148C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2263C=	ENSP00000461912.2:n.*2263C=
ENST00000703106.1:c.2232C=	ENSP00000515173.1:n.2232C=
ENST00000703107.1:c.*2116C=	ENSP00000515174.1:n.*2116C=
ENST00000703108.1:c.*635C=	ENSP00000515175.1:n.*635C=
ENST00000703109.1:c.2220C=	ENSP00000515176.1:p.Asp740=
ENST00000703110.1:c.*1689C=	ENSP00000515177.1:n.*1689C=
ENST00000703111.1:n.2470C=
ENST00000703112.1:n.3131C=
ENST00000703113.1:c.*1600C=	ENSP00000515178.1:n.*1600C=
ENST00000703114.1:c.*836C=	ENSP00000515179.1:n.*836C=
ENST00000703115.1:c.1300C=	ENSP00000515180.1:n.1300C=
ENST00000323786.10:c.2187C= MANE Select	ENSP00000315775.5:p.Asp729=
ENST00000564415.6:c.*1967C=	ENSP00000456653.2:n.*1967C=
ENST00000674443.1:c.2112C=	ENSP00000501405.1:p.Asp704=
ENST00000323786.9:c.2187C=	ENSP00000315775.5:p.Asp729=
ENST00000393612.8:c.2124C=	ENSP00000377236.5:p.Asp708=
ENST00000482252.5:c.2334C=	ENSP00000432802.1:n.2334C=
ENST00000526700.5:n.1363C=
ENST00000530314.5:n.2866C=
ENST00000564415.5:c.*1967C=	ENSP00000456653.1:n.*1967C=
ENST00000565715.1:c.249C=	ENSP00000455693.1:p.Asp83=
NM_001195139.1:c.2124C=	NP_001182068.1:p.Asp708=
NM_015386.2:c.2187C=	NP_056201.2:p.Asp729=
XM_011522981.1:c.1761C=	XP_011521283.1:p.Asp587=
XM_011522981.3:c.1761C=	XP_011521283.1:p.Asp587=
XM_024450224.1:c.1206C=	XP_024305992.1:p.Asp402=
XR_933266.2:n.2133C=
NM_015386.3:c.2187C= MANE Select	NP_056201.2:p.Asp729=
NM_001195139.2:c.2112C=	NP_001182068.2:p.Asp704=
NM_001365426.1:c.1761C=	NP_001352355.1:p.Asp587=
NR_158212.1:n.2146C=