Canonical Allele Identifier: CA275987

Gene: COG4

Linked Data

• ClinVar Variation Id: 208568
• ClinVar RCV Id: RCV000190572 ; RCV003137769
• dbSNP Id: rs376663459
• ExAC: 16:70548253 G / A
• gnomAD v2: 16-70548253-G-A
• gnomAD v3: 16-70514350-G-A
• gnomAD v4: 16-70514350-G-A
• MyVariant Identifiers: chr16:g.70548253G>A (hg19) ; chr16:g.70514350G>A (hg38)
• PubMed: PMID:19494034 ; PMID:21185756

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70514350G>A , CM000678.2:g.70514350G>A	GRCh38
NC_000016.9:g.70548253G>A , CM000678.1:g.70548253G>A	GRCh37
NC_000016.8:g.69105754G>A	NCBI36
NG_027529.1:g.14205C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*605C>T	ENSP00000461912.2:n.*605C>T
ENST00000703106.1:c.478C>T	ENSP00000515173.1:p.Arg160Ter
ENST00000703107.1:c.*458C>T	ENSP00000515174.1:n.*458C>T
ENST00000703108.1:c.517C>T	ENSP00000515175.1:p.Arg173Ter
ENST00000703109.1:c.436C>T	ENSP00000515176.1:p.Arg146Ter
ENST00000703110.1:c.*110-1918C>T	ENSP00000515177.1:n.*110-1918C>T
ENST00000703111.1:n.536C>T
ENST00000703112.1:n.536C>T
ENST00000703113.1:c.517C>T	ENSP00000515178.1:p.Arg173Ter
ENST00000703114.1:c.517C>T	ENSP00000515179.1:p.Arg173Ter
ENST00000703115.1:c.385C>T	ENSP00000515180.1:p.Arg129Ter
ENST00000323786.10:c.529C>T MANE Select	ENSP00000315775.5:p.Arg177Ter
ENST00000530160.2:c.*111C>T	ENSP00000434160.2:n.*111C>T
ENST00000564415.6:c.*309C>T	ENSP00000456653.2:n.*309C>T
ENST00000564653.6:c.501+16C>T	ENSP00000454573.2:n.501+16C>T
ENST00000674443.1:c.517C>T	ENSP00000501405.1:p.Arg173Ter
ENST00000323786.9:c.529C>T	ENSP00000315775.5:p.Arg177Ter
ENST00000393612.8:c.529C>T	ENSP00000377236.5:p.Arg177Ter
ENST00000482252.5:c.517C>T	ENSP00000432802.1:p.Arg173Ter
ENST00000524584.1:c.476C>T
ENST00000530160.1:c.*111C>T	ENSP00000434160.1:n.*111C>T
ENST00000530314.5:n.442C>T
ENST00000534772.1:c.298C>T	ENSP00000461912.1:p.Arg100Ter
ENST00000562200.5:n.526C>T
ENST00000564415.5:c.*309C>T	ENSP00000456653.1:n.*309C>T
ENST00000564653.5:c.513+16C>T	ENSP00000454573.1:n.513+16C>T
NM_001195139.1:c.529C>T	NP_001182068.1:p.Arg177Ter
NM_015386.2:c.529C>T	NP_056201.2:p.Arg177Ter
XM_011522981.1:c.103C>T	XP_011521283.1:p.Arg35Ter
XR_933266.1:n.527C>T
XR_933267.1:n.527C>T
XM_011522981.3:c.103C>T	XP_011521283.1:p.Arg35Ter
XM_024450224.1:c.-1156C>T	XP_024305992.1:n.-1156C>T
XR_001751889.1:n.527C>T
XR_933266.2:n.527C>T
NM_015386.3:c.529C>T MANE Select	NP_056201.2:p.Arg177Ter
NM_001195139.2:c.517C>T	NP_001182068.2:p.Arg173Ter
NM_001365426.1:c.103C>T	NP_001352355.1:p.Arg35Ter
NR_158212.1:n.540C>T