Canonical Allele Identifier: CA8144285

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70496308T>G , CM000678.2:g.70496308T>G	GRCh38
NC_000016.9:g.70530211T>G , CM000678.1:g.70530211T>G	GRCh37
NC_000016.8:g.69087712T>G	NCBI36
NG_027529.1:g.32247A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1681A>C	ENSP00000461912.2:n.*1681A>C
ENST00000703106.1:c.1554A>C	ENSP00000515173.1:p.Thr518=
ENST00000703107.1:c.*1534A>C	ENSP00000515174.1:n.*1534A>C
ENST00000703108.1:c.*53A>C	ENSP00000515175.1:n.*53A>C
ENST00000703109.1:c.1512A>C	ENSP00000515176.1:p.Thr504=
ENST00000703110.1:c.*1170A>C	ENSP00000515177.1:n.*1170A>C
ENST00000703111.1:n.1612A>C
ENST00000703112.1:n.2378A>C
ENST00000703113.1:c.*1018A>C	ENSP00000515178.1:n.*1018A>C
ENST00000703114.1:c.*254A>C	ENSP00000515179.1:n.*254A>C
ENST00000703115.1:c.790-5945A>C	ENSP00000515180.1:n.790-5945A>C
ENST00000323786.10:c.1605A>C MANE Select	ENSP00000315775.5:p.Thr535=
ENST00000564415.6:c.*1385A>C	ENSP00000456653.2:n.*1385A>C
ENST00000674443.1:c.1593A>C	ENSP00000501405.1:p.Thr531=
ENST00000323786.9:c.1605A>C	ENSP00000315775.5:p.Thr535=
ENST00000393612.8:c.1605A>C	ENSP00000377236.5:p.Thr535=
ENST00000482252.5:c.1752A>C	ENSP00000432802.1:n.1752A>C
ENST00000526700.5:n.844A>C
ENST00000530314.5:n.2284A>C
ENST00000564315.1:n.65A>C
ENST00000564415.5:c.*1385A>C	ENSP00000456653.1:n.*1385A>C
NM_001195139.1:c.1605A>C	NP_001182068.1:p.Thr535=
NM_015386.2:c.1605A>C	NP_056201.2:p.Thr535=
XM_011522981.1:c.1179A>C	XP_011521283.1:p.Thr393=
XR_933266.1:n.1551A>C
XR_933267.1:n.1551A>C
XM_011522981.3:c.1179A>C	XP_011521283.1:p.Thr393=
XM_024450224.1:c.687A>C	XP_024305992.1:p.Thr229=
XR_001751889.1:n.1551A>C
XR_933266.2:n.1551A>C
NM_015386.3:c.1605A>C MANE Select	NP_056201.2:p.Thr535=
NM_001195139.2:c.1593A>C	NP_001182068.2:p.Thr531=
NM_001365426.1:c.1179A>C	NP_001352355.1:p.Thr393=
NR_158212.1:n.1564A>C