Canonical Allele Identifier: CA396580739

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517830G>T (hg19) ; chr16:g.70483927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483927G>T , CM000678.2:g.70483927G>T	GRCh38
NC_000016.9:g.70517830G>T , CM000678.1:g.70517830G>T	GRCh37
NC_000016.8:g.69075331G>T	NCBI36
NG_027529.1:g.44628C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1829C>A	ENSP00000461912.2:n.*1829C>A
ENST00000703106.1:c.1798C>A	ENSP00000515173.1:n.1798C>A
ENST00000703107.1:c.*1682C>A	ENSP00000515174.1:n.*1682C>A
ENST00000703108.1:c.*201C>A	ENSP00000515175.1:n.*201C>A
ENST00000703109.1:c.1786C>A	ENSP00000515176.1:p.Gln596Lys
ENST00000703110.1:c.*1255C>A	ENSP00000515177.1:n.*1255C>A
ENST00000703111.1:n.1760C>A
ENST00000703112.1:n.2526C>A
ENST00000703113.1:c.*1166C>A	ENSP00000515178.1:n.*1166C>A
ENST00000703114.1:c.*402C>A	ENSP00000515179.1:n.*402C>A
ENST00000703115.1:c.866C>A	ENSP00000515180.1:n.866C>A
ENST00000323786.10:c.1753C>A MANE Select	ENSP00000315775.5:p.Gln585Lys
ENST00000564415.6:c.*1533C>A	ENSP00000456653.2:n.*1533C>A
ENST00000674443.1:c.1678C>A	ENSP00000501405.1:p.Gln560Lys
ENST00000323786.9:c.1753C>A	ENSP00000315775.5:p.Gln585Lys
ENST00000393612.8:c.1690C>A	ENSP00000377236.5:p.Gln564Lys
ENST00000482252.5:c.1900C>A	ENSP00000432802.1:n.1900C>A
ENST00000526700.5:n.929C>A
ENST00000530314.5:n.2432C>A
ENST00000564315.1:n.213C>A
ENST00000564415.5:c.*1533C>A	ENSP00000456653.1:n.*1533C>A
NM_001195139.1:c.1690C>A	NP_001182068.1:p.Gln564Lys
NM_015386.2:c.1753C>A	NP_056201.2:p.Gln585Lys
XM_011522981.1:c.1327C>A	XP_011521283.1:p.Gln443Lys
XR_933266.1:n.1699C>A
XR_933267.1:n.1699C>A
XM_011522981.3:c.1327C>A	XP_011521283.1:p.Gln443Lys
XM_024450224.1:c.772C>A	XP_024305992.1:p.Gln258Lys
XR_001751889.1:n.1636C>A
XR_933266.2:n.1699C>A
NM_015386.3:c.1753C>A MANE Select	NP_056201.2:p.Gln585Lys
NM_001195139.2:c.1678C>A	NP_001182068.2:p.Gln560Lys
NM_001365426.1:c.1327C>A	NP_001352355.1:p.Gln443Lys
NR_158212.1:n.1712C>A