Canonical Allele Identifier: CA2230785019

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481431C= , CM000678.2:g.70481431C=	GRCh38
NC_000016.9:g.70515334C= , CM000678.1:g.70515334C=	GRCh37
NC_000016.8:g.69072835C=	NCBI36
NG_027529.1:g.47124G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2239G=	ENSP00000461912.2:n.*2239G=
ENST00000703106.1:c.2208G=	ENSP00000515173.1:n.2208G=
ENST00000703107.1:c.*2092G=	ENSP00000515174.1:n.*2092G=
ENST00000703108.1:c.*611G=	ENSP00000515175.1:n.*611G=
ENST00000703109.1:c.2196G=	ENSP00000515176.1:p.Thr732=
ENST00000703110.1:c.*1665G=	ENSP00000515177.1:n.*1665G=
ENST00000703111.1:n.2446G=
ENST00000703112.1:n.3107G=
ENST00000703113.1:c.*1576G=	ENSP00000515178.1:n.*1576G=
ENST00000703114.1:c.*812G=	ENSP00000515179.1:n.*812G=
ENST00000703115.1:c.1276G=	ENSP00000515180.1:n.1276G=
ENST00000323786.10:c.2163G= MANE Select	ENSP00000315775.5:p.Thr721=
ENST00000564415.6:c.*1943G=	ENSP00000456653.2:n.*1943G=
ENST00000674443.1:c.2088G=	ENSP00000501405.1:p.Thr696=
ENST00000323786.9:c.2163G=	ENSP00000315775.5:p.Thr721=
ENST00000393612.8:c.2100G=	ENSP00000377236.5:p.Thr700=
ENST00000482252.5:c.2310G=	ENSP00000432802.1:n.2310G=
ENST00000526700.5:n.1339G=
ENST00000530314.5:n.2842G=
ENST00000564415.5:c.*1943G=	ENSP00000456653.1:n.*1943G=
ENST00000565715.1:c.225G=	ENSP00000455693.1:p.Thr75=
NM_001195139.1:c.2100G=	NP_001182068.1:p.Thr700=
NM_015386.2:c.2163G=	NP_056201.2:p.Thr721=
XM_011522981.1:c.1737G=	XP_011521283.1:p.Thr579=
XM_011522981.3:c.1737G=	XP_011521283.1:p.Thr579=
XM_024450224.1:c.1182G=	XP_024305992.1:p.Thr394=
XR_933266.2:n.2109G=
NM_015386.3:c.2163G= MANE Select	NP_056201.2:p.Thr721=
NM_001195139.2:c.2088G=	NP_001182068.2:p.Thr696=
NM_001365426.1:c.1737G=	NP_001352355.1:p.Thr579=
NR_158212.1:n.2122G=