Canonical Allele Identifier: CA396578517

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515369T>A (hg19) ; chr16:g.70481466T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481466T>A , CM000678.2:g.70481466T>A	GRCh38
NC_000016.9:g.70515369T>A , CM000678.1:g.70515369T>A	GRCh37
NC_000016.8:g.69072870T>A	NCBI36
NG_027529.1:g.47089A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2204A>T	ENSP00000461912.2:n.*2204A>T
ENST00000703106.1:c.2173A>T	ENSP00000515173.1:n.2173A>T
ENST00000703107.1:c.*2057A>T	ENSP00000515174.1:n.*2057A>T
ENST00000703108.1:c.*576A>T	ENSP00000515175.1:n.*576A>T
ENST00000703109.1:c.2161A>T	ENSP00000515176.1:p.Lys721Ter
ENST00000703110.1:c.*1630A>T	ENSP00000515177.1:n.*1630A>T
ENST00000703111.1:n.2411A>T
ENST00000703112.1:n.3072A>T
ENST00000703113.1:c.*1541A>T	ENSP00000515178.1:n.*1541A>T
ENST00000703114.1:c.*777A>T	ENSP00000515179.1:n.*777A>T
ENST00000703115.1:c.1241A>T	ENSP00000515180.1:n.1241A>T
ENST00000323786.10:c.2128A>T MANE Select	ENSP00000315775.5:p.Lys710Ter
ENST00000564415.6:c.*1908A>T	ENSP00000456653.2:n.*1908A>T
ENST00000674443.1:c.2053A>T	ENSP00000501405.1:p.Lys685Ter
ENST00000323786.9:c.2128A>T	ENSP00000315775.5:p.Lys710Ter
ENST00000393612.8:c.2065A>T	ENSP00000377236.5:p.Lys689Ter
ENST00000482252.5:c.2275A>T	ENSP00000432802.1:n.2275A>T
ENST00000526700.5:n.1304A>T
ENST00000530314.5:n.2807A>T
ENST00000564415.5:c.*1908A>T	ENSP00000456653.1:n.*1908A>T
ENST00000565715.1:c.190A>T	ENSP00000455693.1:p.Lys64Ter
NM_001195139.1:c.2065A>T	NP_001182068.1:p.Lys689Ter
NM_015386.2:c.2128A>T	NP_056201.2:p.Lys710Ter
XM_011522981.1:c.1702A>T	XP_011521283.1:p.Lys568Ter
XM_011522981.3:c.1702A>T	XP_011521283.1:p.Lys568Ter
XM_024450224.1:c.1147A>T	XP_024305992.1:p.Lys383Ter
XR_001751889.1:n.2011A>T
XR_933266.2:n.2074A>T
NM_015386.3:c.2128A>T MANE Select	NP_056201.2:p.Lys710Ter
NM_001195139.2:c.2053A>T	NP_001182068.2:p.Lys685Ter
NM_001365426.1:c.1702A>T	NP_001352355.1:p.Lys568Ter
NR_158212.1:n.2087A>T