Canonical Allele Identifier: CA396580704

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517814A>T (hg19) ; chr16:g.70483911A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483911A>T , CM000678.2:g.70483911A>T	GRCh38
NC_000016.9:g.70517814A>T , CM000678.1:g.70517814A>T	GRCh37
NC_000016.8:g.69075315A>T	NCBI36
NG_027529.1:g.44644T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1845T>A	ENSP00000461912.2:n.*1845T>A
ENST00000703106.1:c.1814T>A	ENSP00000515173.1:n.1814T>A
ENST00000703107.1:c.*1698T>A	ENSP00000515174.1:n.*1698T>A
ENST00000703108.1:c.*217T>A	ENSP00000515175.1:n.*217T>A
ENST00000703109.1:c.1802T>A	ENSP00000515176.1:p.Phe601Tyr
ENST00000703110.1:c.*1271T>A	ENSP00000515177.1:n.*1271T>A
ENST00000703111.1:n.1776T>A
ENST00000703112.1:n.2542T>A
ENST00000703113.1:c.*1182T>A	ENSP00000515178.1:n.*1182T>A
ENST00000703114.1:c.*418T>A	ENSP00000515179.1:n.*418T>A
ENST00000703115.1:c.882T>A	ENSP00000515180.1:n.882T>A
ENST00000323786.10:c.1769T>A MANE Select	ENSP00000315775.5:p.Phe590Tyr
ENST00000564415.6:c.*1549T>A	ENSP00000456653.2:n.*1549T>A
ENST00000674443.1:c.1694T>A	ENSP00000501405.1:p.Phe565Tyr
ENST00000323786.9:c.1769T>A	ENSP00000315775.5:p.Phe590Tyr
ENST00000393612.8:c.1706T>A	ENSP00000377236.5:p.Phe569Tyr
ENST00000482252.5:c.1916T>A	ENSP00000432802.1:n.1916T>A
ENST00000526700.5:n.945T>A
ENST00000530314.5:n.2448T>A
ENST00000564315.1:n.229T>A
ENST00000564415.5:c.*1549T>A	ENSP00000456653.1:n.*1549T>A
NM_001195139.1:c.1706T>A	NP_001182068.1:p.Phe569Tyr
NM_015386.2:c.1769T>A	NP_056201.2:p.Phe590Tyr
XM_011522981.1:c.1343T>A	XP_011521283.1:p.Phe448Tyr
XR_933266.1:n.1715T>A
XR_933267.1:n.1715T>A
XM_011522981.3:c.1343T>A	XP_011521283.1:p.Phe448Tyr
XM_024450224.1:c.788T>A	XP_024305992.1:p.Phe263Tyr
XR_001751889.1:n.1652T>A
XR_933266.2:n.1715T>A
NM_015386.3:c.1769T>A MANE Select	NP_056201.2:p.Phe590Tyr
NM_001195139.2:c.1694T>A	NP_001182068.2:p.Phe565Tyr
NM_001365426.1:c.1343T>A	NP_001352355.1:p.Phe448Tyr
NR_158212.1:n.1728T>A