Canonical Allele Identifier: CA2230785008

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481409C= , CM000678.2:g.70481409C=	GRCh38
NC_000016.9:g.70515312C= , CM000678.1:g.70515312C=	GRCh37
NC_000016.8:g.69072813C=	NCBI36
NG_027529.1:g.47146G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2261G=	ENSP00000461912.2:n.*2261G=
ENST00000703106.1:c.2230G=	ENSP00000515173.1:n.2230G=
ENST00000703107.1:c.*2114G=	ENSP00000515174.1:n.*2114G=
ENST00000703108.1:c.*633G=	ENSP00000515175.1:n.*633G=
ENST00000703109.1:c.2218G=	ENSP00000515176.1:p.Asp740=
ENST00000703110.1:c.*1687G=	ENSP00000515177.1:n.*1687G=
ENST00000703111.1:n.2468G=
ENST00000703112.1:n.3129G=
ENST00000703113.1:c.*1598G=	ENSP00000515178.1:n.*1598G=
ENST00000703114.1:c.*834G=	ENSP00000515179.1:n.*834G=
ENST00000703115.1:c.1298G=	ENSP00000515180.1:n.1298G=
ENST00000323786.10:c.2185G= MANE Select	ENSP00000315775.5:p.Asp729=
ENST00000564415.6:c.*1965G=	ENSP00000456653.2:n.*1965G=
ENST00000674443.1:c.2110G=	ENSP00000501405.1:p.Asp704=
ENST00000323786.9:c.2185G=	ENSP00000315775.5:p.Asp729=
ENST00000393612.8:c.2122G=	ENSP00000377236.5:p.Asp708=
ENST00000482252.5:c.2332G=	ENSP00000432802.1:n.2332G=
ENST00000526700.5:n.1361G=
ENST00000530314.5:n.2864G=
ENST00000564415.5:c.*1965G=	ENSP00000456653.1:n.*1965G=
ENST00000565715.1:c.247G=	ENSP00000455693.1:p.Asp83=
NM_001195139.1:c.2122G=	NP_001182068.1:p.Asp708=
NM_015386.2:c.2185G=	NP_056201.2:p.Asp729=
XM_011522981.1:c.1759G=	XP_011521283.1:p.Asp587=
XM_011522981.3:c.1759G=	XP_011521283.1:p.Asp587=
XM_024450224.1:c.1204G=	XP_024305992.1:p.Asp402=
XR_933266.2:n.2131G=
NM_015386.3:c.2185G= MANE Select	NP_056201.2:p.Asp729=
NM_001195139.2:c.2110G=	NP_001182068.2:p.Asp704=
NM_001365426.1:c.1759G=	NP_001352355.1:p.Asp587=
NR_158212.1:n.2144G=