Canonical Allele Identifier: CA396580675

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517803G>T (hg19) ; chr16:g.70483900G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483900G>T , CM000678.2:g.70483900G>T	GRCh38
NC_000016.9:g.70517803G>T , CM000678.1:g.70517803G>T	GRCh37
NC_000016.8:g.69075304G>T	NCBI36
NG_027529.1:g.44655C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1856C>A	ENSP00000461912.2:n.*1856C>A
ENST00000703106.1:c.1825C>A	ENSP00000515173.1:n.1825C>A
ENST00000703107.1:c.*1709C>A	ENSP00000515174.1:n.*1709C>A
ENST00000703108.1:c.*228C>A	ENSP00000515175.1:n.*228C>A
ENST00000703109.1:c.1813C>A	ENSP00000515176.1:p.Leu605Ile
ENST00000703110.1:c.*1282C>A	ENSP00000515177.1:n.*1282C>A
ENST00000703111.1:n.1787C>A
ENST00000703112.1:n.2553C>A
ENST00000703113.1:c.*1193C>A	ENSP00000515178.1:n.*1193C>A
ENST00000703114.1:c.*429C>A	ENSP00000515179.1:n.*429C>A
ENST00000703115.1:c.893C>A	ENSP00000515180.1:n.893C>A
ENST00000323786.10:c.1780C>A MANE Select	ENSP00000315775.5:p.Leu594Ile
ENST00000564415.6:c.*1560C>A	ENSP00000456653.2:n.*1560C>A
ENST00000674443.1:c.1705C>A	ENSP00000501405.1:p.Leu569Ile
ENST00000323786.9:c.1780C>A	ENSP00000315775.5:p.Leu594Ile
ENST00000393612.8:c.1717C>A	ENSP00000377236.5:p.Leu573Ile
ENST00000482252.5:c.1927C>A	ENSP00000432802.1:n.1927C>A
ENST00000526700.5:n.956C>A
ENST00000530314.5:n.2459C>A
ENST00000564315.1:n.240C>A
ENST00000564415.5:c.*1560C>A	ENSP00000456653.1:n.*1560C>A
NM_001195139.1:c.1717C>A	NP_001182068.1:p.Leu573Ile
NM_015386.2:c.1780C>A	NP_056201.2:p.Leu594Ile
XM_011522981.1:c.1354C>A	XP_011521283.1:p.Leu452Ile
XR_933266.1:n.1726C>A
XR_933267.1:n.1726C>A
XM_011522981.3:c.1354C>A	XP_011521283.1:p.Leu452Ile
XM_024450224.1:c.799C>A	XP_024305992.1:p.Leu267Ile
XR_001751889.1:n.1663C>A
XR_933266.2:n.1726C>A
NM_015386.3:c.1780C>A MANE Select	NP_056201.2:p.Leu594Ile
NM_001195139.2:c.1705C>A	NP_001182068.2:p.Leu569Ile
NM_001365426.1:c.1354C>A	NP_001352355.1:p.Leu452Ile
NR_158212.1:n.1739C>A