Canonical Allele Identifier: CA396578180

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515321T>A (hg19) ; chr16:g.70481418T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481418T>A , CM000678.2:g.70481418T>A	GRCh38
NC_000016.9:g.70515321T>A , CM000678.1:g.70515321T>A	GRCh37
NC_000016.8:g.69072822T>A	NCBI36
NG_027529.1:g.47137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2252A>T	ENSP00000461912.2:n.*2252A>T
ENST00000703106.1:c.2221A>T	ENSP00000515173.1:n.2221A>T
ENST00000703107.1:c.*2105A>T	ENSP00000515174.1:n.*2105A>T
ENST00000703108.1:c.*624A>T	ENSP00000515175.1:n.*624A>T
ENST00000703109.1:c.2209A>T	ENSP00000515176.1:p.Thr737Ser
ENST00000703110.1:c.*1678A>T	ENSP00000515177.1:n.*1678A>T
ENST00000703111.1:n.2459A>T
ENST00000703112.1:n.3120A>T
ENST00000703113.1:c.*1589A>T	ENSP00000515178.1:n.*1589A>T
ENST00000703114.1:c.*825A>T	ENSP00000515179.1:n.*825A>T
ENST00000703115.1:c.1289A>T	ENSP00000515180.1:n.1289A>T
ENST00000323786.10:c.2176A>T MANE Select	ENSP00000315775.5:p.Thr726Ser
ENST00000564415.6:c.*1956A>T	ENSP00000456653.2:n.*1956A>T
ENST00000674443.1:c.2101A>T	ENSP00000501405.1:p.Thr701Ser
ENST00000323786.9:c.2176A>T	ENSP00000315775.5:p.Thr726Ser
ENST00000393612.8:c.2113A>T	ENSP00000377236.5:p.Thr705Ser
ENST00000482252.5:c.2323A>T	ENSP00000432802.1:n.2323A>T
ENST00000526700.5:n.1352A>T
ENST00000530314.5:n.2855A>T
ENST00000564415.5:c.*1956A>T	ENSP00000456653.1:n.*1956A>T
ENST00000565715.1:c.238A>T	ENSP00000455693.1:p.Thr80Ser
NM_001195139.1:c.2113A>T	NP_001182068.1:p.Thr705Ser
NM_015386.2:c.2176A>T	NP_056201.2:p.Thr726Ser
XM_011522981.1:c.1750A>T	XP_011521283.1:p.Thr584Ser
XM_011522981.3:c.1750A>T	XP_011521283.1:p.Thr584Ser
XM_024450224.1:c.1195A>T	XP_024305992.1:p.Thr399Ser
XR_933266.2:n.2122A>T
NM_015386.3:c.2176A>T MANE Select	NP_056201.2:p.Thr726Ser
NM_001195139.2:c.2101A>T	NP_001182068.2:p.Thr701Ser
NM_001365426.1:c.1750A>T	NP_001352355.1:p.Thr584Ser
NR_158212.1:n.2135A>T