Canonical Allele Identifier: CA496227832

Gene: COG4

Linked Data

• dbSNP Id: rs2048990929
• gnomAD v3: 16-70481473-C-T
• gnomAD v4: 16-70481473-C-T
• MyVariant Identifiers: chr16:g.70515376C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481473C>T , CM000678.2:g.70481473C>T	GRCh38
NC_000016.9:g.70515376C>T , CM000678.1:g.70515376C>T	GRCh37
NC_000016.8:g.69072877C>T	NCBI36
NG_027529.1:g.47082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2197G>A	ENSP00000461912.2:n.*2197G>A
ENST00000703106.1:c.2166G>A	ENSP00000515173.1:n.2166G>A
ENST00000703107.1:c.*2050G>A	ENSP00000515174.1:n.*2050G>A
ENST00000703108.1:c.*569G>A	ENSP00000515175.1:n.*569G>A
ENST00000703109.1:c.2154G>A	ENSP00000515176.1:p.Gln718=
ENST00000703110.1:c.*1623G>A	ENSP00000515177.1:n.*1623G>A
ENST00000703111.1:n.2404G>A
ENST00000703112.1:n.3065G>A
ENST00000703113.1:c.*1534G>A	ENSP00000515178.1:n.*1534G>A
ENST00000703114.1:c.*770G>A	ENSP00000515179.1:n.*770G>A
ENST00000703115.1:c.1234G>A	ENSP00000515180.1:n.1234G>A
ENST00000323786.10:c.2121G>A MANE Select	ENSP00000315775.5:p.Gln707=
ENST00000564415.6:c.*1901G>A	ENSP00000456653.2:n.*1901G>A
ENST00000674443.1:c.2046G>A	ENSP00000501405.1:p.Gln682=
ENST00000323786.9:c.2121G>A	ENSP00000315775.5:p.Gln707=
ENST00000393612.8:c.2058G>A	ENSP00000377236.5:p.Gln686=
ENST00000482252.5:c.2268G>A	ENSP00000432802.1:n.2268G>A
ENST00000526700.5:n.1297G>A
ENST00000530314.5:n.2800G>A
ENST00000564415.5:c.*1901G>A	ENSP00000456653.1:n.*1901G>A
ENST00000565715.1:c.183G>A	ENSP00000455693.1:p.Gln61=
NM_001195139.1:c.2058G>A	NP_001182068.1:p.Gln686=
NM_015386.2:c.2121G>A	NP_056201.2:p.Gln707=
XM_011522981.1:c.1695G>A	XP_011521283.1:p.Gln565=
XM_011522981.3:c.1695G>A	XP_011521283.1:p.Gln565=
XM_024450224.1:c.1140G>A	XP_024305992.1:p.Gln380=
XR_001751889.1:n.2004G>A
XR_933266.2:n.2067G>A
NM_015386.3:c.2121G>A MANE Select	NP_056201.2:p.Gln707=
NM_001195139.2:c.2046G>A	NP_001182068.2:p.Gln682=
NM_001365426.1:c.1695G>A	NP_001352355.1:p.Gln565=
NR_158212.1:n.2080G>A