Canonical Allele Identifier: CA283452773

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70512378T>C , CM000678.2:g.70512378T>C	GRCh38
NC_000016.9:g.70546281T>C , CM000678.1:g.70546281T>C	GRCh37
NC_000016.8:g.69103782T>C	NCBI36
NG_027529.1:g.16177A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*675A>G	ENSP00000461912.2:n.*675A>G
ENST00000703106.1:c.548A>G	ENSP00000515173.1:p.Lys183Arg
ENST00000703107.1:c.*528A>G	ENSP00000515174.1:n.*528A>G
ENST00000703108.1:c.587A>G	ENSP00000515175.1:p.Lys196Arg
ENST00000703109.1:c.506A>G	ENSP00000515176.1:p.Lys169Arg
ENST00000703110.1:c.*164A>G	ENSP00000515177.1:n.*164A>G
ENST00000703111.1:n.606A>G
ENST00000703112.1:n.606A>G
ENST00000703113.1:c.*12A>G	ENSP00000515178.1:n.*12A>G
ENST00000703114.1:c.587A>G	ENSP00000515179.1:p.Lys196Arg
ENST00000703115.1:c.455A>G	ENSP00000515180.1:p.Lys152Arg
ENST00000323786.10:c.599A>G MANE Select	ENSP00000315775.5:p.Lys200Arg
ENST00000530160.2:c.*181A>G	ENSP00000434160.2:n.*181A>G
ENST00000564415.6:c.*379A>G	ENSP00000456653.2:n.*379A>G
ENST00000564653.6:c.502-42A>G	ENSP00000454573.2:n.502-42A>G
ENST00000674443.1:c.587A>G	ENSP00000501405.1:p.Lys196Arg
ENST00000323786.9:c.599A>G	ENSP00000315775.5:p.Lys200Arg
ENST00000393612.8:c.599A>G	ENSP00000377236.5:p.Lys200Arg
ENST00000482252.5:c.587A>G	ENSP00000432802.1:p.Lys196Arg
ENST00000524584.1:c.546A>G
ENST00000530160.1:c.*181A>G	ENSP00000434160.1:n.*181A>G
ENST00000530314.5:n.512A>G
ENST00000534772.1:c.368A>G	ENSP00000461912.1:p.Lys123Arg
ENST00000562200.5:n.596A>G
ENST00000564415.5:c.*379A>G	ENSP00000456653.1:n.*379A>G
ENST00000564653.5:c.514-42A>G	ENSP00000454573.1:n.514-42A>G
NM_001195139.1:c.599A>G	NP_001182068.1:p.Lys200Arg
NM_015386.2:c.599A>G	NP_056201.2:p.Lys200Arg
XM_011522981.1:c.173A>G	XP_011521283.1:p.Lys58Arg
XR_933266.1:n.597A>G
XR_933267.1:n.597A>G
XM_011522981.3:c.173A>G	XP_011521283.1:p.Lys58Arg
XM_024450224.1:c.-1086A>G	XP_024305992.1:n.-1086A>G
XR_001751889.1:n.597A>G
XR_933266.2:n.597A>G
NM_015386.3:c.599A>G MANE Select	NP_056201.2:p.Lys200Arg
NM_001195139.2:c.587A>G	NP_001182068.2:p.Lys196Arg
NM_001365426.1:c.173A>G	NP_001352355.1:p.Lys58Arg
NR_158212.1:n.610A>G