Canonical Allele Identifier: CA2230785003

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481399G= , CM000678.2:g.70481399G=	GRCh38
NC_000016.9:g.70515302G= , CM000678.1:g.70515302G=	GRCh37
NC_000016.8:g.69072803G=	NCBI36
NG_027529.1:g.47156C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2271C=	ENSP00000461912.2:n.*2271C=
ENST00000703106.1:c.2240C=	ENSP00000515173.1:n.2240C=
ENST00000703107.1:c.*2124C=	ENSP00000515174.1:n.*2124C=
ENST00000703108.1:c.*643C=	ENSP00000515175.1:n.*643C=
ENST00000703109.1:c.2228C=	ENSP00000515176.1:p.Ala743=
ENST00000703110.1:c.*1697C=	ENSP00000515177.1:n.*1697C=
ENST00000703111.1:n.2478C=
ENST00000703112.1:n.3139C=
ENST00000703113.1:c.*1608C=	ENSP00000515178.1:n.*1608C=
ENST00000703114.1:c.*844C=	ENSP00000515179.1:n.*844C=
ENST00000703115.1:c.1308C=	ENSP00000515180.1:n.1308C=
ENST00000323786.10:c.2195C= MANE Select	ENSP00000315775.5:p.Ala732=
ENST00000564415.6:c.*1975C=	ENSP00000456653.2:n.*1975C=
ENST00000674443.1:c.2120C=	ENSP00000501405.1:p.Ala707=
ENST00000323786.9:c.2195C=	ENSP00000315775.5:p.Ala732=
ENST00000393612.8:c.2132C=	ENSP00000377236.5:p.Ala711=
ENST00000482252.5:c.2342C=	ENSP00000432802.1:n.2342C=
ENST00000526700.5:n.1371C=
ENST00000530314.5:n.2874C=
ENST00000564415.5:c.*1975C=	ENSP00000456653.1:n.*1975C=
ENST00000565715.1:c.257C=	ENSP00000455693.1:p.Ala86=
NM_001195139.1:c.2132C=	NP_001182068.1:p.Ala711=
NM_015386.2:c.2195C=	NP_056201.2:p.Ala732=
XM_011522981.1:c.1769C=	XP_011521283.1:p.Ala590=
XM_011522981.3:c.1769C=	XP_011521283.1:p.Ala590=
XM_024450224.1:c.1214C=	XP_024305992.1:p.Ala405=
XR_933266.2:n.2141C=
NM_015386.3:c.2195C= MANE Select	NP_056201.2:p.Ala732=
NM_001195139.2:c.2120C=	NP_001182068.2:p.Ala707=
NM_001365426.1:c.1769C=	NP_001352355.1:p.Ala590=
NR_158212.1:n.2154C=