Canonical Allele Identifier: CA496227819

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515352G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481449G>C , CM000678.2:g.70481449G>C	GRCh38
NC_000016.9:g.70515352G>C , CM000678.1:g.70515352G>C	GRCh37
NC_000016.8:g.69072853G>C	NCBI36
NG_027529.1:g.47106C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2221C>G	ENSP00000461912.2:n.*2221C>G
ENST00000703106.1:c.2190C>G	ENSP00000515173.1:n.2190C>G
ENST00000703107.1:c.*2074C>G	ENSP00000515174.1:n.*2074C>G
ENST00000703108.1:c.*593C>G	ENSP00000515175.1:n.*593C>G
ENST00000703109.1:c.2178C>G	ENSP00000515176.1:p.Leu726=
ENST00000703110.1:c.*1647C>G	ENSP00000515177.1:n.*1647C>G
ENST00000703111.1:n.2428C>G
ENST00000703112.1:n.3089C>G
ENST00000703113.1:c.*1558C>G	ENSP00000515178.1:n.*1558C>G
ENST00000703114.1:c.*794C>G	ENSP00000515179.1:n.*794C>G
ENST00000703115.1:c.1258C>G	ENSP00000515180.1:n.1258C>G
ENST00000323786.10:c.2145C>G MANE Select	ENSP00000315775.5:p.Leu715=
ENST00000564415.6:c.*1925C>G	ENSP00000456653.2:n.*1925C>G
ENST00000674443.1:c.2070C>G	ENSP00000501405.1:p.Leu690=
ENST00000323786.9:c.2145C>G	ENSP00000315775.5:p.Leu715=
ENST00000393612.8:c.2082C>G	ENSP00000377236.5:p.Leu694=
ENST00000482252.5:c.2292C>G	ENSP00000432802.1:n.2292C>G
ENST00000526700.5:n.1321C>G
ENST00000530314.5:n.2824C>G
ENST00000564415.5:c.*1925C>G	ENSP00000456653.1:n.*1925C>G
ENST00000565715.1:c.207C>G	ENSP00000455693.1:p.Leu69=
NM_001195139.1:c.2082C>G	NP_001182068.1:p.Leu694=
NM_015386.2:c.2145C>G	NP_056201.2:p.Leu715=
XM_011522981.1:c.1719C>G	XP_011521283.1:p.Leu573=
XM_011522981.3:c.1719C>G	XP_011521283.1:p.Leu573=
XM_024450224.1:c.1164C>G	XP_024305992.1:p.Leu388=
XR_933266.2:n.2091C>G
NM_015386.3:c.2145C>G MANE Select	NP_056201.2:p.Leu715=
NM_001195139.2:c.2070C>G	NP_001182068.2:p.Leu690=
NM_001365426.1:c.1719C>G	NP_001352355.1:p.Leu573=
NR_158212.1:n.2104C>G