Canonical Allele Identifier: CA396578500

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515368T>G (hg19) ; chr16:g.70481465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481465T>G , CM000678.2:g.70481465T>G	GRCh38
NC_000016.9:g.70515368T>G , CM000678.1:g.70515368T>G	GRCh37
NC_000016.8:g.69072869T>G	NCBI36
NG_027529.1:g.47090A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2205A>C	ENSP00000461912.2:n.*2205A>C
ENST00000703106.1:c.2174A>C	ENSP00000515173.1:n.2174A>C
ENST00000703107.1:c.*2058A>C	ENSP00000515174.1:n.*2058A>C
ENST00000703108.1:c.*577A>C	ENSP00000515175.1:n.*577A>C
ENST00000703109.1:c.2162A>C	ENSP00000515176.1:p.Lys721Thr
ENST00000703110.1:c.*1631A>C	ENSP00000515177.1:n.*1631A>C
ENST00000703111.1:n.2412A>C
ENST00000703112.1:n.3073A>C
ENST00000703113.1:c.*1542A>C	ENSP00000515178.1:n.*1542A>C
ENST00000703114.1:c.*778A>C	ENSP00000515179.1:n.*778A>C
ENST00000703115.1:c.1242A>C	ENSP00000515180.1:n.1242A>C
ENST00000323786.10:c.2129A>C MANE Select	ENSP00000315775.5:p.Lys710Thr
ENST00000564415.6:c.*1909A>C	ENSP00000456653.2:n.*1909A>C
ENST00000674443.1:c.2054A>C	ENSP00000501405.1:p.Lys685Thr
ENST00000323786.9:c.2129A>C	ENSP00000315775.5:p.Lys710Thr
ENST00000393612.8:c.2066A>C	ENSP00000377236.5:p.Lys689Thr
ENST00000482252.5:c.2276A>C	ENSP00000432802.1:n.2276A>C
ENST00000526700.5:n.1305A>C
ENST00000530314.5:n.2808A>C
ENST00000564415.5:c.*1909A>C	ENSP00000456653.1:n.*1909A>C
ENST00000565715.1:c.191A>C	ENSP00000455693.1:p.Lys64Thr
NM_001195139.1:c.2066A>C	NP_001182068.1:p.Lys689Thr
NM_015386.2:c.2129A>C	NP_056201.2:p.Lys710Thr
XM_011522981.1:c.1703A>C	XP_011521283.1:p.Lys568Thr
XM_011522981.3:c.1703A>C	XP_011521283.1:p.Lys568Thr
XM_024450224.1:c.1148A>C	XP_024305992.1:p.Lys383Thr
XR_001751889.1:n.2012A>C
XR_933266.2:n.2075A>C
NM_015386.3:c.2129A>C MANE Select	NP_056201.2:p.Lys710Thr
NM_001195139.2:c.2054A>C	NP_001182068.2:p.Lys685Thr
NM_001365426.1:c.1703A>C	NP_001352355.1:p.Lys568Thr
NR_158212.1:n.2088A>C