Canonical Allele Identifier: CA396578274

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515335G>C (hg19) ; chr16:g.70481432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481432G>C , CM000678.2:g.70481432G>C	GRCh38
NC_000016.9:g.70515335G>C , CM000678.1:g.70515335G>C	GRCh37
NC_000016.8:g.69072836G>C	NCBI36
NG_027529.1:g.47123C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2238C>G	ENSP00000461912.2:n.*2238C>G
ENST00000703106.1:c.2207C>G	ENSP00000515173.1:n.2207C>G
ENST00000703107.1:c.*2091C>G	ENSP00000515174.1:n.*2091C>G
ENST00000703108.1:c.*610C>G	ENSP00000515175.1:n.*610C>G
ENST00000703109.1:c.2195C>G	ENSP00000515176.1:p.Thr732Arg
ENST00000703110.1:c.*1664C>G	ENSP00000515177.1:n.*1664C>G
ENST00000703111.1:n.2445C>G
ENST00000703112.1:n.3106C>G
ENST00000703113.1:c.*1575C>G	ENSP00000515178.1:n.*1575C>G
ENST00000703114.1:c.*811C>G	ENSP00000515179.1:n.*811C>G
ENST00000703115.1:c.1275C>G	ENSP00000515180.1:n.1275C>G
ENST00000323786.10:c.2162C>G MANE Select	ENSP00000315775.5:p.Thr721Arg
ENST00000564415.6:c.*1942C>G	ENSP00000456653.2:n.*1942C>G
ENST00000674443.1:c.2087C>G	ENSP00000501405.1:p.Thr696Arg
ENST00000323786.9:c.2162C>G	ENSP00000315775.5:p.Thr721Arg
ENST00000393612.8:c.2099C>G	ENSP00000377236.5:p.Thr700Arg
ENST00000482252.5:c.2309C>G	ENSP00000432802.1:n.2309C>G
ENST00000526700.5:n.1338C>G
ENST00000530314.5:n.2841C>G
ENST00000564415.5:c.*1942C>G	ENSP00000456653.1:n.*1942C>G
ENST00000565715.1:c.224C>G	ENSP00000455693.1:p.Thr75Arg
NM_001195139.1:c.2099C>G	NP_001182068.1:p.Thr700Arg
NM_015386.2:c.2162C>G	NP_056201.2:p.Thr721Arg
XM_011522981.1:c.1736C>G	XP_011521283.1:p.Thr579Arg
XM_011522981.3:c.1736C>G	XP_011521283.1:p.Thr579Arg
XM_024450224.1:c.1181C>G	XP_024305992.1:p.Thr394Arg
XR_933266.2:n.2108C>G
NM_015386.3:c.2162C>G MANE Select	NP_056201.2:p.Thr721Arg
NM_001195139.2:c.2087C>G	NP_001182068.2:p.Thr696Arg
NM_001365426.1:c.1736C>G	NP_001352355.1:p.Thr579Arg
NR_158212.1:n.2121C>G