Canonical Allele Identifier: CA396580578

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517758G>T (hg19) ; chr16:g.70483855G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483855G>T , CM000678.2:g.70483855G>T	GRCh38
NC_000016.9:g.70517758G>T , CM000678.1:g.70517758G>T	GRCh37
NC_000016.8:g.69075259G>T	NCBI36
NG_027529.1:g.44700C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1901C>A	ENSP00000461912.2:n.*1901C>A
ENST00000703106.1:c.1870C>A	ENSP00000515173.1:n.1870C>A
ENST00000703107.1:c.*1754C>A	ENSP00000515174.1:n.*1754C>A
ENST00000703108.1:c.*273C>A	ENSP00000515175.1:n.*273C>A
ENST00000703109.1:c.1858C>A	ENSP00000515176.1:p.Gln620Lys
ENST00000703110.1:c.*1327C>A	ENSP00000515177.1:n.*1327C>A
ENST00000703111.1:n.1832C>A
ENST00000703112.1:n.2598C>A
ENST00000703113.1:c.*1238C>A	ENSP00000515178.1:n.*1238C>A
ENST00000703114.1:c.*474C>A	ENSP00000515179.1:n.*474C>A
ENST00000703115.1:c.938C>A	ENSP00000515180.1:n.938C>A
ENST00000323786.10:c.1825C>A MANE Select	ENSP00000315775.5:p.Gln609Lys
ENST00000564415.6:c.*1605C>A	ENSP00000456653.2:n.*1605C>A
ENST00000674443.1:c.1750C>A	ENSP00000501405.1:p.Gln584Lys
ENST00000323786.9:c.1825C>A	ENSP00000315775.5:p.Gln609Lys
ENST00000393612.8:c.1762C>A	ENSP00000377236.5:p.Gln588Lys
ENST00000482252.5:c.1972C>A	ENSP00000432802.1:n.1972C>A
ENST00000526700.5:n.1001C>A
ENST00000530314.5:n.2504C>A
ENST00000564315.1:n.285C>A
ENST00000564415.5:c.*1605C>A	ENSP00000456653.1:n.*1605C>A
NM_001195139.1:c.1762C>A	NP_001182068.1:p.Gln588Lys
NM_015386.2:c.1825C>A	NP_056201.2:p.Gln609Lys
XM_011522981.1:c.1399C>A	XP_011521283.1:p.Gln467Lys
XR_933266.1:n.1771C>A
XR_933267.1:n.1771C>A
XM_011522981.3:c.1399C>A	XP_011521283.1:p.Gln467Lys
XM_024450224.1:c.844C>A	XP_024305992.1:p.Gln282Lys
XR_001751889.1:n.1708C>A
XR_933266.2:n.1771C>A
NM_015386.3:c.1825C>A MANE Select	NP_056201.2:p.Gln609Lys
NM_001195139.2:c.1750C>A	NP_001182068.2:p.Gln584Lys
NM_001365426.1:c.1399C>A	NP_001352355.1:p.Gln467Lys
NR_158212.1:n.1784C>A