Canonical Allele Identifier: CA496228718

Gene: COG4

Linked Data

• dbSNP Id: rs1161466969
• MyVariant Identifiers: chr16:g.70517816C>T (hg19) ; chr16:g.70483913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483913C>T , CM000678.2:g.70483913C>T	GRCh38
NC_000016.9:g.70517816C>T , CM000678.1:g.70517816C>T	GRCh37
NC_000016.8:g.69075317C>T	NCBI36
NG_027529.1:g.44642G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1843G>A	ENSP00000461912.2:n.*1843G>A
ENST00000703106.1:c.1812G>A	ENSP00000515173.1:n.1812G>A
ENST00000703107.1:c.*1696G>A	ENSP00000515174.1:n.*1696G>A
ENST00000703108.1:c.*215G>A	ENSP00000515175.1:n.*215G>A
ENST00000703109.1:c.1800G>A	ENSP00000515176.1:p.Lys600=
ENST00000703110.1:c.*1269G>A	ENSP00000515177.1:n.*1269G>A
ENST00000703111.1:n.1774G>A
ENST00000703112.1:n.2540G>A
ENST00000703113.1:c.*1180G>A	ENSP00000515178.1:n.*1180G>A
ENST00000703114.1:c.*416G>A	ENSP00000515179.1:n.*416G>A
ENST00000703115.1:c.880G>A	ENSP00000515180.1:n.880G>A
ENST00000323786.10:c.1767G>A MANE Select	ENSP00000315775.5:p.Lys589=
ENST00000564415.6:c.*1547G>A	ENSP00000456653.2:n.*1547G>A
ENST00000674443.1:c.1692G>A	ENSP00000501405.1:p.Lys564=
ENST00000323786.9:c.1767G>A	ENSP00000315775.5:p.Lys589=
ENST00000393612.8:c.1704G>A	ENSP00000377236.5:p.Lys568=
ENST00000482252.5:c.1914G>A	ENSP00000432802.1:n.1914G>A
ENST00000526700.5:n.943G>A
ENST00000530314.5:n.2446G>A
ENST00000564315.1:n.227G>A
ENST00000564415.5:c.*1547G>A	ENSP00000456653.1:n.*1547G>A
NM_001195139.1:c.1704G>A	NP_001182068.1:p.Lys568=
NM_015386.2:c.1767G>A	NP_056201.2:p.Lys589=
XM_011522981.1:c.1341G>A	XP_011521283.1:p.Lys447=
XR_933266.1:n.1713G>A
XR_933267.1:n.1713G>A
XM_011522981.3:c.1341G>A	XP_011521283.1:p.Lys447=
XM_024450224.1:c.786G>A	XP_024305992.1:p.Lys262=
XR_001751889.1:n.1650G>A
XR_933266.2:n.1713G>A
NM_015386.3:c.1767G>A MANE Select	NP_056201.2:p.Lys589=
NM_001195139.2:c.1692G>A	NP_001182068.2:p.Lys564=
NM_001365426.1:c.1341G>A	NP_001352355.1:p.Lys447=
NR_158212.1:n.1726G>A