Canonical Allele Identifier: CA396578443

Gene: COG4

Linked Data

• dbSNP Id: rs1233668416
• gnomAD v4: 16-70481456-C-T
• MyVariant Identifiers: chr16:g.70515359C>T (hg19) ; chr16:g.70481456C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481456C>T , CM000678.2:g.70481456C>T	GRCh38
NC_000016.9:g.70515359C>T , CM000678.1:g.70515359C>T	GRCh37
NC_000016.8:g.69072860C>T	NCBI36
NG_027529.1:g.47099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2214G>A	ENSP00000461912.2:n.*2214G>A
ENST00000703106.1:c.2183G>A	ENSP00000515173.1:n.2183G>A
ENST00000703107.1:c.*2067G>A	ENSP00000515174.1:n.*2067G>A
ENST00000703108.1:c.*586G>A	ENSP00000515175.1:n.*586G>A
ENST00000703109.1:c.2171G>A	ENSP00000515176.1:p.Arg724Lys
ENST00000703110.1:c.*1640G>A	ENSP00000515177.1:n.*1640G>A
ENST00000703111.1:n.2421G>A
ENST00000703112.1:n.3082G>A
ENST00000703113.1:c.*1551G>A	ENSP00000515178.1:n.*1551G>A
ENST00000703114.1:c.*787G>A	ENSP00000515179.1:n.*787G>A
ENST00000703115.1:c.1251G>A	ENSP00000515180.1:n.1251G>A
ENST00000323786.10:c.2138G>A MANE Select	ENSP00000315775.5:p.Arg713Lys
ENST00000564415.6:c.*1918G>A	ENSP00000456653.2:n.*1918G>A
ENST00000674443.1:c.2063G>A	ENSP00000501405.1:p.Arg688Lys
ENST00000323786.9:c.2138G>A	ENSP00000315775.5:p.Arg713Lys
ENST00000393612.8:c.2075G>A	ENSP00000377236.5:p.Arg692Lys
ENST00000482252.5:c.2285G>A	ENSP00000432802.1:n.2285G>A
ENST00000526700.5:n.1314G>A
ENST00000530314.5:n.2817G>A
ENST00000564415.5:c.*1918G>A	ENSP00000456653.1:n.*1918G>A
ENST00000565715.1:c.200G>A	ENSP00000455693.1:p.Arg67Lys
NM_001195139.1:c.2075G>A	NP_001182068.1:p.Arg692Lys
NM_015386.2:c.2138G>A	NP_056201.2:p.Arg713Lys
XM_011522981.1:c.1712G>A	XP_011521283.1:p.Arg571Lys
XM_011522981.3:c.1712G>A	XP_011521283.1:p.Arg571Lys
XM_024450224.1:c.1157G>A	XP_024305992.1:p.Arg386Lys
XR_001751889.1:n.2021G>A
XR_933266.2:n.2084G>A
NM_015386.3:c.2138G>A MANE Select	NP_056201.2:p.Arg713Lys
NM_001195139.2:c.2063G>A	NP_001182068.2:p.Arg688Lys
NM_001365426.1:c.1712G>A	NP_001352355.1:p.Arg571Lys
NR_158212.1:n.2097G>A