Canonical Allele Identifier: CA396580719

Gene: COG4

Linked Data

• dbSNP Id: rs2049069326
• gnomAD v3: 16-70483918-C-T
• gnomAD v4: 16-70483918-C-T
• MyVariant Identifiers: chr16:g.70517821C>T (hg19) ; chr16:g.70483918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483918C>T , CM000678.2:g.70483918C>T	GRCh38
NC_000016.9:g.70517821C>T , CM000678.1:g.70517821C>T	GRCh37
NC_000016.8:g.69075322C>T	NCBI36
NG_027529.1:g.44637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1838G>A	ENSP00000461912.2:n.*1838G>A
ENST00000703106.1:c.1807G>A	ENSP00000515173.1:n.1807G>A
ENST00000703107.1:c.*1691G>A	ENSP00000515174.1:n.*1691G>A
ENST00000703108.1:c.*210G>A	ENSP00000515175.1:n.*210G>A
ENST00000703109.1:c.1795G>A	ENSP00000515176.1:p.Ala599Thr
ENST00000703110.1:c.*1264G>A	ENSP00000515177.1:n.*1264G>A
ENST00000703111.1:n.1769G>A
ENST00000703112.1:n.2535G>A
ENST00000703113.1:c.*1175G>A	ENSP00000515178.1:n.*1175G>A
ENST00000703114.1:c.*411G>A	ENSP00000515179.1:n.*411G>A
ENST00000703115.1:c.875G>A	ENSP00000515180.1:n.875G>A
ENST00000323786.10:c.1762G>A MANE Select	ENSP00000315775.5:p.Ala588Thr
ENST00000564415.6:c.*1542G>A	ENSP00000456653.2:n.*1542G>A
ENST00000674443.1:c.1687G>A	ENSP00000501405.1:p.Ala563Thr
ENST00000323786.9:c.1762G>A	ENSP00000315775.5:p.Ala588Thr
ENST00000393612.8:c.1699G>A	ENSP00000377236.5:p.Ala567Thr
ENST00000482252.5:c.1909G>A	ENSP00000432802.1:n.1909G>A
ENST00000526700.5:n.938G>A
ENST00000530314.5:n.2441G>A
ENST00000564315.1:n.222G>A
ENST00000564415.5:c.*1542G>A	ENSP00000456653.1:n.*1542G>A
NM_001195139.1:c.1699G>A	NP_001182068.1:p.Ala567Thr
NM_015386.2:c.1762G>A	NP_056201.2:p.Ala588Thr
XM_011522981.1:c.1336G>A	XP_011521283.1:p.Ala446Thr
XR_933266.1:n.1708G>A
XR_933267.1:n.1708G>A
XM_011522981.3:c.1336G>A	XP_011521283.1:p.Ala446Thr
XM_024450224.1:c.781G>A	XP_024305992.1:p.Ala261Thr
XR_001751889.1:n.1645G>A
XR_933266.2:n.1708G>A
NM_015386.3:c.1762G>A MANE Select	NP_056201.2:p.Ala588Thr
NM_001195139.2:c.1687G>A	NP_001182068.2:p.Ala563Thr
NM_001365426.1:c.1336G>A	NP_001352355.1:p.Ala446Thr
NR_158212.1:n.1721G>A