Canonical Allele Identifier: CA396578449

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515360T>C (hg19) ; chr16:g.70481457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481457T>C , CM000678.2:g.70481457T>C	GRCh38
NC_000016.9:g.70515360T>C , CM000678.1:g.70515360T>C	GRCh37
NC_000016.8:g.69072861T>C	NCBI36
NG_027529.1:g.47098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2213A>G	ENSP00000461912.2:n.*2213A>G
ENST00000703106.1:c.2182A>G	ENSP00000515173.1:n.2182A>G
ENST00000703107.1:c.*2066A>G	ENSP00000515174.1:n.*2066A>G
ENST00000703108.1:c.*585A>G	ENSP00000515175.1:n.*585A>G
ENST00000703109.1:c.2170A>G	ENSP00000515176.1:p.Arg724Gly
ENST00000703110.1:c.*1639A>G	ENSP00000515177.1:n.*1639A>G
ENST00000703111.1:n.2420A>G
ENST00000703112.1:n.3081A>G
ENST00000703113.1:c.*1550A>G	ENSP00000515178.1:n.*1550A>G
ENST00000703114.1:c.*786A>G	ENSP00000515179.1:n.*786A>G
ENST00000703115.1:c.1250A>G	ENSP00000515180.1:n.1250A>G
ENST00000323786.10:c.2137A>G MANE Select	ENSP00000315775.5:p.Arg713Gly
ENST00000564415.6:c.*1917A>G	ENSP00000456653.2:n.*1917A>G
ENST00000674443.1:c.2062A>G	ENSP00000501405.1:p.Arg688Gly
ENST00000323786.9:c.2137A>G	ENSP00000315775.5:p.Arg713Gly
ENST00000393612.8:c.2074A>G	ENSP00000377236.5:p.Arg692Gly
ENST00000482252.5:c.2284A>G	ENSP00000432802.1:n.2284A>G
ENST00000526700.5:n.1313A>G
ENST00000530314.5:n.2816A>G
ENST00000564415.5:c.*1917A>G	ENSP00000456653.1:n.*1917A>G
ENST00000565715.1:c.199A>G	ENSP00000455693.1:p.Arg67Gly
NM_001195139.1:c.2074A>G	NP_001182068.1:p.Arg692Gly
NM_015386.2:c.2137A>G	NP_056201.2:p.Arg713Gly
XM_011522981.1:c.1711A>G	XP_011521283.1:p.Arg571Gly
XM_011522981.3:c.1711A>G	XP_011521283.1:p.Arg571Gly
XM_024450224.1:c.1156A>G	XP_024305992.1:p.Arg386Gly
XR_001751889.1:n.2020A>G
XR_933266.2:n.2083A>G
NM_015386.3:c.2137A>G MANE Select	NP_056201.2:p.Arg713Gly
NM_001195139.2:c.2062A>G	NP_001182068.2:p.Arg688Gly
NM_001365426.1:c.1711A>G	NP_001352355.1:p.Arg571Gly
NR_158212.1:n.2096A>G