Canonical Allele Identifier: CA8144630

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70512348G>A , CM000678.2:g.70512348G>A	GRCh38
NC_000016.9:g.70546251G>A , CM000678.1:g.70546251G>A	GRCh37
NC_000016.8:g.69103752G>A	NCBI36
NG_027529.1:g.16207C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015386.3:c.629C>T MANE Select	NP_056201.2:p.Ala210Val
ENST00000323786.10:c.629C>T MANE Select	ENSP00000315775.5:p.Ala210Val
NM_001195139.1:c.629C>T	NP_001182068.1:p.Ala210Val
NM_001195139.2:c.617C>T	NP_001182068.2:p.Ala206Val
NM_001365426.1:c.203C>T	NP_001352355.1:p.Ala68Val
NM_015386.2:c.629C>T	NP_056201.2:p.Ala210Val
NR_158212.1:n.640C>T
ENST00000323786.9:c.629C>T	ENSP00000315775.5:p.Ala210Val
ENST00000393612.8:c.629C>T	ENSP00000377236.5:p.Ala210Val
ENST00000482252.5:c.617C>T	ENSP00000432802.1:p.Ala206Val
ENST00000530160.1:c.*211C>T	ENSP00000434160.1:n.*211C>T
ENST00000530160.2:c.*211C>T	ENSP00000434160.2:n.*211C>T
ENST00000530314.5:n.542C>T
ENST00000534772.1:c.398C>T	ENSP00000461912.1:p.Ala133Val
ENST00000534772.2:c.*705C>T	ENSP00000461912.2:n.*705C>T
ENST00000562200.5:n.626C>T
ENST00000564415.5:c.*409C>T	ENSP00000456653.1:n.*409C>T
ENST00000564415.6:c.*409C>T	ENSP00000456653.2:n.*409C>T
ENST00000564653.5:c.514-12C>T	ENSP00000454573.1:n.514-12C>T
ENST00000564653.6:c.502-12C>T	ENSP00000454573.2:n.502-12C>T
ENST00000674443.1:c.617C>T	ENSP00000501405.1:p.Ala206Val
ENST00000703106.1:c.578C>T	ENSP00000515173.1:p.Ala193Val
ENST00000703107.1:c.*558C>T	ENSP00000515174.1:n.*558C>T
ENST00000703108.1:c.617C>T	ENSP00000515175.1:p.Ala206Val
ENST00000703109.1:c.536C>T	ENSP00000515176.1:p.Ala179Val
ENST00000703110.1:c.*194C>T	ENSP00000515177.1:n.*194C>T
ENST00000703111.1:n.636C>T
ENST00000703112.1:n.636C>T
ENST00000703113.1:c.*42C>T	ENSP00000515178.1:n.*42C>T
ENST00000703114.1:c.617C>T	ENSP00000515179.1:p.Ala206Val
ENST00000703115.1:c.485C>T	ENSP00000515180.1:p.Ala162Val
XM_011522981.1:c.203C>T	XP_011521283.1:p.Ala68Val
XM_011522981.3:c.203C>T	XP_011521283.1:p.Ala68Val
XM_024450224.1:c.-1056C>T	XP_024305992.1:n.-1056C>T
XR_001751889.1:n.627C>T
XR_933266.1:n.627C>T
XR_933266.2:n.627C>T
XR_933267.1:n.627C>T