Canonical Allele Identifier: CA396578446

Gene: COG4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2213A>T	ENSP00000461912.2:n.*2213A>T
ENST00000703106.1:c.2182A>T	ENSP00000515173.1:n.2182A>T
ENST00000703107.1:c.*2066A>T	ENSP00000515174.1:n.*2066A>T
ENST00000703108.1:c.*585A>T	ENSP00000515175.1:n.*585A>T
ENST00000703109.1:c.2170A>T	ENSP00000515176.1:p.Arg724Trp
ENST00000703110.1:c.*1639A>T	ENSP00000515177.1:n.*1639A>T
ENST00000703111.1:n.2420A>T
ENST00000703112.1:n.3081A>T
ENST00000703113.1:c.*1550A>T	ENSP00000515178.1:n.*1550A>T
ENST00000703114.1:c.*786A>T	ENSP00000515179.1:n.*786A>T
ENST00000703115.1:c.1250A>T	ENSP00000515180.1:n.1250A>T
ENST00000323786.10:c.2137A>T MANE Select	ENSP00000315775.5:p.Arg713Trp
ENST00000564415.6:c.*1917A>T	ENSP00000456653.2:n.*1917A>T
ENST00000674443.1:c.2062A>T	ENSP00000501405.1:p.Arg688Trp
ENST00000323786.9:c.2137A>T	ENSP00000315775.5:p.Arg713Trp
ENST00000393612.8:c.2074A>T	ENSP00000377236.5:p.Arg692Trp
ENST00000482252.5:c.2284A>T	ENSP00000432802.1:n.2284A>T
ENST00000526700.5:n.1313A>T
ENST00000530314.5:n.2816A>T
ENST00000564415.5:c.*1917A>T	ENSP00000456653.1:n.*1917A>T
ENST00000565715.1:c.199A>T	ENSP00000455693.1:p.Arg67Trp
NM_001195139.1:c.2074A>T	NP_001182068.1:p.Arg692Trp
NM_015386.2:c.2137A>T	NP_056201.2:p.Arg713Trp
XM_011522981.1:c.1711A>T	XP_011521283.1:p.Arg571Trp
XM_011522981.3:c.1711A>T	XP_011521283.1:p.Arg571Trp
XM_024450224.1:c.1156A>T	XP_024305992.1:p.Arg386Trp
XR_001751889.1:n.2020A>T
XR_933266.2:n.2083A>T
NM_015386.3:c.2137A>T MANE Select	NP_056201.2:p.Arg713Trp
NM_001195139.2:c.2062A>T	NP_001182068.2:p.Arg688Trp
NM_001365426.1:c.1711A>T	NP_001352355.1:p.Arg571Trp
NR_158212.1:n.2096A>T