Canonical Allele Identifier: CA396580701

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517813A>T (hg19) ; chr16:g.70483910A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483910A>T , CM000678.2:g.70483910A>T	GRCh38
NC_000016.9:g.70517813A>T , CM000678.1:g.70517813A>T	GRCh37
NC_000016.8:g.69075314A>T	NCBI36
NG_027529.1:g.44645T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1846T>A	ENSP00000461912.2:n.*1846T>A
ENST00000703106.1:c.1815T>A	ENSP00000515173.1:n.1815T>A
ENST00000703107.1:c.*1699T>A	ENSP00000515174.1:n.*1699T>A
ENST00000703108.1:c.*218T>A	ENSP00000515175.1:n.*218T>A
ENST00000703109.1:c.1803T>A	ENSP00000515176.1:p.Phe601Leu
ENST00000703110.1:c.*1272T>A	ENSP00000515177.1:n.*1272T>A
ENST00000703111.1:n.1777T>A
ENST00000703112.1:n.2543T>A
ENST00000703113.1:c.*1183T>A	ENSP00000515178.1:n.*1183T>A
ENST00000703114.1:c.*419T>A	ENSP00000515179.1:n.*419T>A
ENST00000703115.1:c.883T>A	ENSP00000515180.1:n.883T>A
ENST00000323786.10:c.1770T>A MANE Select	ENSP00000315775.5:p.Phe590Leu
ENST00000564415.6:c.*1550T>A	ENSP00000456653.2:n.*1550T>A
ENST00000674443.1:c.1695T>A	ENSP00000501405.1:p.Phe565Leu
ENST00000323786.9:c.1770T>A	ENSP00000315775.5:p.Phe590Leu
ENST00000393612.8:c.1707T>A	ENSP00000377236.5:p.Phe569Leu
ENST00000482252.5:c.1917T>A	ENSP00000432802.1:n.1917T>A
ENST00000526700.5:n.946T>A
ENST00000530314.5:n.2449T>A
ENST00000564315.1:n.230T>A
ENST00000564415.5:c.*1550T>A	ENSP00000456653.1:n.*1550T>A
NM_001195139.1:c.1707T>A	NP_001182068.1:p.Phe569Leu
NM_015386.2:c.1770T>A	NP_056201.2:p.Phe590Leu
XM_011522981.1:c.1344T>A	XP_011521283.1:p.Phe448Leu
XR_933266.1:n.1716T>A
XR_933267.1:n.1716T>A
XM_011522981.3:c.1344T>A	XP_011521283.1:p.Phe448Leu
XM_024450224.1:c.789T>A	XP_024305992.1:p.Phe263Leu
XR_001751889.1:n.1653T>A
XR_933266.2:n.1716T>A
NM_015386.3:c.1770T>A MANE Select	NP_056201.2:p.Phe590Leu
NM_001195139.2:c.1695T>A	NP_001182068.2:p.Phe565Leu
NM_001365426.1:c.1344T>A	NP_001352355.1:p.Phe448Leu
NR_158212.1:n.1729T>A