Canonical Allele Identifier: CA396578524

Gene: COG4

Linked Data

• gnomAD v4: 16-70481467-G-T
• MyVariant Identifiers: chr16:g.70515370G>T (hg19) ; chr16:g.70481467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481467G>T , CM000678.2:g.70481467G>T	GRCh38
NC_000016.9:g.70515370G>T , CM000678.1:g.70515370G>T	GRCh37
NC_000016.8:g.69072871G>T	NCBI36
NG_027529.1:g.47088C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2203C>A	ENSP00000461912.2:n.*2203C>A
ENST00000703106.1:c.2172C>A	ENSP00000515173.1:n.2172C>A
ENST00000703107.1:c.*2056C>A	ENSP00000515174.1:n.*2056C>A
ENST00000703108.1:c.*575C>A	ENSP00000515175.1:n.*575C>A
ENST00000703109.1:c.2160C>A	ENSP00000515176.1:p.Asp720Glu
ENST00000703110.1:c.*1629C>A	ENSP00000515177.1:n.*1629C>A
ENST00000703111.1:n.2410C>A
ENST00000703112.1:n.3071C>A
ENST00000703113.1:c.*1540C>A	ENSP00000515178.1:n.*1540C>A
ENST00000703114.1:c.*776C>A	ENSP00000515179.1:n.*776C>A
ENST00000703115.1:c.1240C>A	ENSP00000515180.1:n.1240C>A
ENST00000323786.10:c.2127C>A MANE Select	ENSP00000315775.5:p.Asp709Glu
ENST00000564415.6:c.*1907C>A	ENSP00000456653.2:n.*1907C>A
ENST00000674443.1:c.2052C>A	ENSP00000501405.1:p.Asp684Glu
ENST00000323786.9:c.2127C>A	ENSP00000315775.5:p.Asp709Glu
ENST00000393612.8:c.2064C>A	ENSP00000377236.5:p.Asp688Glu
ENST00000482252.5:c.2274C>A	ENSP00000432802.1:n.2274C>A
ENST00000526700.5:n.1303C>A
ENST00000530314.5:n.2806C>A
ENST00000564415.5:c.*1907C>A	ENSP00000456653.1:n.*1907C>A
ENST00000565715.1:c.189C>A	ENSP00000455693.1:p.Asp63Glu
NM_001195139.1:c.2064C>A	NP_001182068.1:p.Asp688Glu
NM_015386.2:c.2127C>A	NP_056201.2:p.Asp709Glu
XM_011522981.1:c.1701C>A	XP_011521283.1:p.Asp567Glu
XM_011522981.3:c.1701C>A	XP_011521283.1:p.Asp567Glu
XM_024450224.1:c.1146C>A	XP_024305992.1:p.Asp382Glu
XR_001751889.1:n.2010C>A
XR_933266.2:n.2073C>A
NM_015386.3:c.2127C>A MANE Select	NP_056201.2:p.Asp709Glu
NM_001195139.2:c.2052C>A	NP_001182068.2:p.Asp684Glu
NM_001365426.1:c.1701C>A	NP_001352355.1:p.Asp567Glu
NR_158212.1:n.2086C>A