Canonical Allele Identifier: CA496227807

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515337G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481434G>C , CM000678.2:g.70481434G>C	GRCh38
NC_000016.9:g.70515337G>C , CM000678.1:g.70515337G>C	GRCh37
NC_000016.8:g.69072838G>C	NCBI36
NG_027529.1:g.47121C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2236C>G	ENSP00000461912.2:n.*2236C>G
ENST00000703106.1:c.2205C>G	ENSP00000515173.1:n.2205C>G
ENST00000703107.1:c.*2089C>G	ENSP00000515174.1:n.*2089C>G
ENST00000703108.1:c.*608C>G	ENSP00000515175.1:n.*608C>G
ENST00000703109.1:c.2193C>G	ENSP00000515176.1:p.Thr731=
ENST00000703110.1:c.*1662C>G	ENSP00000515177.1:n.*1662C>G
ENST00000703111.1:n.2443C>G
ENST00000703112.1:n.3104C>G
ENST00000703113.1:c.*1573C>G	ENSP00000515178.1:n.*1573C>G
ENST00000703114.1:c.*809C>G	ENSP00000515179.1:n.*809C>G
ENST00000703115.1:c.1273C>G	ENSP00000515180.1:n.1273C>G
ENST00000323786.10:c.2160C>G MANE Select	ENSP00000315775.5:p.Thr720=
ENST00000564415.6:c.*1940C>G	ENSP00000456653.2:n.*1940C>G
ENST00000674443.1:c.2085C>G	ENSP00000501405.1:p.Thr695=
ENST00000323786.9:c.2160C>G	ENSP00000315775.5:p.Thr720=
ENST00000393612.8:c.2097C>G	ENSP00000377236.5:p.Thr699=
ENST00000482252.5:c.2307C>G	ENSP00000432802.1:n.2307C>G
ENST00000526700.5:n.1336C>G
ENST00000530314.5:n.2839C>G
ENST00000564415.5:c.*1940C>G	ENSP00000456653.1:n.*1940C>G
ENST00000565715.1:c.222C>G	ENSP00000455693.1:p.Thr74=
NM_001195139.1:c.2097C>G	NP_001182068.1:p.Thr699=
NM_015386.2:c.2160C>G	NP_056201.2:p.Thr720=
XM_011522981.1:c.1734C>G	XP_011521283.1:p.Thr578=
XM_011522981.3:c.1734C>G	XP_011521283.1:p.Thr578=
XM_024450224.1:c.1179C>G	XP_024305992.1:p.Thr393=
XR_933266.2:n.2106C>G
NM_015386.3:c.2160C>G MANE Select	NP_056201.2:p.Thr720=
NM_001195139.2:c.2085C>G	NP_001182068.2:p.Thr695=
NM_001365426.1:c.1734C>G	NP_001352355.1:p.Thr578=
NR_158212.1:n.2119C>G