Canonical Allele Identifier: CA396580621

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517777G>T (hg19) ; chr16:g.70483874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483874G>T , CM000678.2:g.70483874G>T	GRCh38
NC_000016.9:g.70517777G>T , CM000678.1:g.70517777G>T	GRCh37
NC_000016.8:g.69075278G>T	NCBI36
NG_027529.1:g.44681C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1882C>A	ENSP00000461912.2:n.*1882C>A
ENST00000703106.1:c.1851C>A	ENSP00000515173.1:n.1851C>A
ENST00000703107.1:c.*1735C>A	ENSP00000515174.1:n.*1735C>A
ENST00000703108.1:c.*254C>A	ENSP00000515175.1:n.*254C>A
ENST00000703109.1:c.1839C>A	ENSP00000515176.1:p.Asn613Lys
ENST00000703110.1:c.*1308C>A	ENSP00000515177.1:n.*1308C>A
ENST00000703111.1:n.1813C>A
ENST00000703112.1:n.2579C>A
ENST00000703113.1:c.*1219C>A	ENSP00000515178.1:n.*1219C>A
ENST00000703114.1:c.*455C>A	ENSP00000515179.1:n.*455C>A
ENST00000703115.1:c.919C>A	ENSP00000515180.1:n.919C>A
ENST00000323786.10:c.1806C>A MANE Select	ENSP00000315775.5:p.Asn602Lys
ENST00000564415.6:c.*1586C>A	ENSP00000456653.2:n.*1586C>A
ENST00000674443.1:c.1731C>A	ENSP00000501405.1:p.Asn577Lys
ENST00000323786.9:c.1806C>A	ENSP00000315775.5:p.Asn602Lys
ENST00000393612.8:c.1743C>A	ENSP00000377236.5:p.Asn581Lys
ENST00000482252.5:c.1953C>A	ENSP00000432802.1:n.1953C>A
ENST00000526700.5:n.982C>A
ENST00000530314.5:n.2485C>A
ENST00000564315.1:n.266C>A
ENST00000564415.5:c.*1586C>A	ENSP00000456653.1:n.*1586C>A
NM_001195139.1:c.1743C>A	NP_001182068.1:p.Asn581Lys
NM_015386.2:c.1806C>A	NP_056201.2:p.Asn602Lys
XM_011522981.1:c.1380C>A	XP_011521283.1:p.Asn460Lys
XR_933266.1:n.1752C>A
XR_933267.1:n.1752C>A
XM_011522981.3:c.1380C>A	XP_011521283.1:p.Asn460Lys
XM_024450224.1:c.825C>A	XP_024305992.1:p.Asn275Lys
XR_001751889.1:n.1689C>A
XR_933266.2:n.1752C>A
NM_015386.3:c.1806C>A MANE Select	NP_056201.2:p.Asn602Lys
NM_001195139.2:c.1731C>A	NP_001182068.2:p.Asn577Lys
NM_001365426.1:c.1380C>A	NP_001352355.1:p.Asn460Lys
NR_158212.1:n.1765C>A