Canonical Allele Identifier: CA396578456

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515362A>G (hg19) ; chr16:g.70481459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481459A>G , CM000678.2:g.70481459A>G	GRCh38
NC_000016.9:g.70515362A>G , CM000678.1:g.70515362A>G	GRCh37
NC_000016.8:g.69072863A>G	NCBI36
NG_027529.1:g.47096T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2211T>C	ENSP00000461912.2:n.*2211T>C
ENST00000703106.1:c.2180T>C	ENSP00000515173.1:n.2180T>C
ENST00000703107.1:c.*2064T>C	ENSP00000515174.1:n.*2064T>C
ENST00000703108.1:c.*583T>C	ENSP00000515175.1:n.*583T>C
ENST00000703109.1:c.2168T>C	ENSP00000515176.1:p.Leu723Pro
ENST00000703110.1:c.*1637T>C	ENSP00000515177.1:n.*1637T>C
ENST00000703111.1:n.2418T>C
ENST00000703112.1:n.3079T>C
ENST00000703113.1:c.*1548T>C	ENSP00000515178.1:n.*1548T>C
ENST00000703114.1:c.*784T>C	ENSP00000515179.1:n.*784T>C
ENST00000703115.1:c.1248T>C	ENSP00000515180.1:n.1248T>C
ENST00000323786.10:c.2135T>C MANE Select	ENSP00000315775.5:p.Leu712Pro
ENST00000564415.6:c.*1915T>C	ENSP00000456653.2:n.*1915T>C
ENST00000674443.1:c.2060T>C	ENSP00000501405.1:p.Leu687Pro
ENST00000323786.9:c.2135T>C	ENSP00000315775.5:p.Leu712Pro
ENST00000393612.8:c.2072T>C	ENSP00000377236.5:p.Leu691Pro
ENST00000482252.5:c.2282T>C	ENSP00000432802.1:n.2282T>C
ENST00000526700.5:n.1311T>C
ENST00000530314.5:n.2814T>C
ENST00000564415.5:c.*1915T>C	ENSP00000456653.1:n.*1915T>C
ENST00000565715.1:c.197T>C	ENSP00000455693.1:p.Leu66Pro
NM_001195139.1:c.2072T>C	NP_001182068.1:p.Leu691Pro
NM_015386.2:c.2135T>C	NP_056201.2:p.Leu712Pro
XM_011522981.1:c.1709T>C	XP_011521283.1:p.Leu570Pro
XM_011522981.3:c.1709T>C	XP_011521283.1:p.Leu570Pro
XM_024450224.1:c.1154T>C	XP_024305992.1:p.Leu385Pro
XR_001751889.1:n.2018T>C
XR_933266.2:n.2081T>C
NM_015386.3:c.2135T>C MANE Select	NP_056201.2:p.Leu712Pro
NM_001195139.2:c.2060T>C	NP_001182068.2:p.Leu687Pro
NM_001365426.1:c.1709T>C	NP_001352355.1:p.Leu570Pro
NR_158212.1:n.2094T>C