Canonical Allele Identifier: CA396578469

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70514496T>C , CM000678.2:g.70514496T>C	GRCh38
NC_000016.9:g.70548399T>C , CM000678.1:g.70548399T>C	GRCh37
NC_000016.8:g.69105900T>C	NCBI36
NG_027529.1:g.14059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*459A>G	ENSP00000461912.2:n.*459A>G
ENST00000703106.1:c.332A>G	ENSP00000515173.1:p.Gln111Arg
ENST00000703107.1:c.*312A>G	ENSP00000515174.1:n.*312A>G
ENST00000703108.1:c.371A>G	ENSP00000515175.1:p.Gln124Arg
ENST00000703109.1:c.290A>G	ENSP00000515176.1:p.Gln97Arg
ENST00000703110.1:c.*110-2064A>G	ENSP00000515177.1:n.*110-2064A>G
ENST00000703111.1:n.390A>G
ENST00000703112.1:n.390A>G
ENST00000703113.1:c.371A>G	ENSP00000515178.1:p.Gln124Arg
ENST00000703114.1:c.371A>G	ENSP00000515179.1:p.Gln124Arg
ENST00000703115.1:c.239A>G	ENSP00000515180.1:p.Gln80Arg
ENST00000323786.10:c.383A>G MANE Select	ENSP00000315775.5:p.Gln128Arg
ENST00000530160.2:c.256A>G	ENSP00000434160.2:p.Arg86Gly
ENST00000564415.6:c.*163A>G	ENSP00000456653.2:n.*163A>G
ENST00000564653.6:c.371A>G	ENSP00000454573.2:p.Gln124Arg
ENST00000674443.1:c.371A>G	ENSP00000501405.1:p.Gln124Arg
ENST00000323786.9:c.383A>G	ENSP00000315775.5:p.Gln128Arg
ENST00000393612.8:c.383A>G	ENSP00000377236.5:p.Gln128Arg
ENST00000482252.5:c.371A>G	ENSP00000432802.1:p.Gln124Arg
ENST00000524584.1:c.330A>G
ENST00000530160.1:c.268A>G	ENSP00000434160.1:p.Arg90Gly
ENST00000530314.5:n.296A>G
ENST00000534772.1:c.152A>G	ENSP00000461912.1:p.Gln51Arg
ENST00000562200.5:n.380A>G
ENST00000564415.5:c.*163A>G	ENSP00000456653.1:n.*163A>G
ENST00000564653.5:c.383A>G	ENSP00000454573.1:p.Gln128Arg
NM_001195139.1:c.383A>G	NP_001182068.1:p.Gln128Arg
NM_015386.2:c.383A>G	NP_056201.2:p.Gln128Arg
XM_011522981.1:c.-44A>G	XP_011521283.1:n.-44A>G
XR_933266.1:n.381A>G
XR_933267.1:n.381A>G
XM_011522981.3:c.-44A>G	XP_011521283.1:n.-44A>G
XM_024450224.1:c.-1302A>G	XP_024305992.1:n.-1302A>G
XR_001751889.1:n.381A>G
XR_933266.2:n.381A>G
NM_015386.3:c.383A>G MANE Select	NP_056201.2:p.Gln128Arg
NM_001195139.2:c.371A>G	NP_001182068.2:p.Gln124Arg
NM_001365426.1:c.-44A>G	NP_001352355.1:n.-44A>G
NR_158212.1:n.394A>G