Canonical Allele Identifier: CA396580711

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517818T>G (hg19) ; chr16:g.70483915T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483915T>G , CM000678.2:g.70483915T>G	GRCh38
NC_000016.9:g.70517818T>G , CM000678.1:g.70517818T>G	GRCh37
NC_000016.8:g.69075319T>G	NCBI36
NG_027529.1:g.44640A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1841A>C	ENSP00000461912.2:n.*1841A>C
ENST00000703106.1:c.1810A>C	ENSP00000515173.1:n.1810A>C
ENST00000703107.1:c.*1694A>C	ENSP00000515174.1:n.*1694A>C
ENST00000703108.1:c.*213A>C	ENSP00000515175.1:n.*213A>C
ENST00000703109.1:c.1798A>C	ENSP00000515176.1:p.Lys600Gln
ENST00000703110.1:c.*1267A>C	ENSP00000515177.1:n.*1267A>C
ENST00000703111.1:n.1772A>C
ENST00000703112.1:n.2538A>C
ENST00000703113.1:c.*1178A>C	ENSP00000515178.1:n.*1178A>C
ENST00000703114.1:c.*414A>C	ENSP00000515179.1:n.*414A>C
ENST00000703115.1:c.878A>C	ENSP00000515180.1:n.878A>C
ENST00000323786.10:c.1765A>C MANE Select	ENSP00000315775.5:p.Lys589Gln
ENST00000564415.6:c.*1545A>C	ENSP00000456653.2:n.*1545A>C
ENST00000674443.1:c.1690A>C	ENSP00000501405.1:p.Lys564Gln
ENST00000323786.9:c.1765A>C	ENSP00000315775.5:p.Lys589Gln
ENST00000393612.8:c.1702A>C	ENSP00000377236.5:p.Lys568Gln
ENST00000482252.5:c.1912A>C	ENSP00000432802.1:n.1912A>C
ENST00000526700.5:n.941A>C
ENST00000530314.5:n.2444A>C
ENST00000564315.1:n.225A>C
ENST00000564415.5:c.*1545A>C	ENSP00000456653.1:n.*1545A>C
NM_001195139.1:c.1702A>C	NP_001182068.1:p.Lys568Gln
NM_015386.2:c.1765A>C	NP_056201.2:p.Lys589Gln
XM_011522981.1:c.1339A>C	XP_011521283.1:p.Lys447Gln
XR_933266.1:n.1711A>C
XR_933267.1:n.1711A>C
XM_011522981.3:c.1339A>C	XP_011521283.1:p.Lys447Gln
XM_024450224.1:c.784A>C	XP_024305992.1:p.Lys262Gln
XR_001751889.1:n.1648A>C
XR_933266.2:n.1711A>C
NM_015386.3:c.1765A>C MANE Select	NP_056201.2:p.Lys589Gln
NM_001195139.2:c.1690A>C	NP_001182068.2:p.Lys564Gln
NM_001365426.1:c.1339A>C	NP_001352355.1:p.Lys447Gln
NR_158212.1:n.1724A>C