Canonical Allele Identifier: CA496228758

Gene: COG4

Linked Data

• dbSNP Id: rs1489818514
• MyVariant Identifiers: chr16:g.70517858C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483955C>T , CM000678.2:g.70483955C>T	GRCh38
NC_000016.9:g.70517858C>T , CM000678.1:g.70517858C>T	GRCh37
NC_000016.8:g.69075359C>T	NCBI36
NG_027529.1:g.44600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1801G>A	ENSP00000461912.2:n.*1801G>A
ENST00000703106.1:c.1770G>A	ENSP00000515173.1:n.1770G>A
ENST00000703107.1:c.*1654G>A	ENSP00000515174.1:n.*1654G>A
ENST00000703108.1:c.*173G>A	ENSP00000515175.1:n.*173G>A
ENST00000703109.1:c.1758G>A	ENSP00000515176.1:p.Lys586=
ENST00000703110.1:c.*1227G>A	ENSP00000515177.1:n.*1227G>A
ENST00000703111.1:n.1732G>A
ENST00000703112.1:n.2498G>A
ENST00000703113.1:c.*1138G>A	ENSP00000515178.1:n.*1138G>A
ENST00000703114.1:c.*374G>A	ENSP00000515179.1:n.*374G>A
ENST00000703115.1:c.838G>A	ENSP00000515180.1:n.838G>A
ENST00000323786.10:c.1725G>A MANE Select	ENSP00000315775.5:p.Lys575=
ENST00000564415.6:c.*1505G>A	ENSP00000456653.2:n.*1505G>A
ENST00000674443.1:c.1650G>A	ENSP00000501405.1:p.Lys550=
ENST00000323786.9:c.1725G>A	ENSP00000315775.5:p.Lys575=
ENST00000393612.8:c.1662G>A	ENSP00000377236.5:p.Lys554=
ENST00000482252.5:c.1872G>A	ENSP00000432802.1:n.1872G>A
ENST00000526700.5:n.901G>A
ENST00000530314.5:n.2404G>A
ENST00000564315.1:n.185G>A
ENST00000564415.5:c.*1505G>A	ENSP00000456653.1:n.*1505G>A
NM_001195139.1:c.1662G>A	NP_001182068.1:p.Lys554=
NM_015386.2:c.1725G>A	NP_056201.2:p.Lys575=
XM_011522981.1:c.1299G>A	XP_011521283.1:p.Lys433=
XR_933266.1:n.1671G>A
XR_933267.1:n.1671G>A
XM_011522981.3:c.1299G>A	XP_011521283.1:p.Lys433=
XM_024450224.1:c.744G>A	XP_024305992.1:p.Lys248=
XR_001751889.1:n.1608G>A
XR_933266.2:n.1671G>A
NM_015386.3:c.1725G>A MANE Select	NP_056201.2:p.Lys575=
NM_001195139.2:c.1650G>A	NP_001182068.2:p.Lys550=
NM_001365426.1:c.1299G>A	NP_001352355.1:p.Lys433=
NR_158212.1:n.1684G>A