Canonical Allele Identifier: CA8144201

Gene: COG4

Linked Data

• dbSNP Id: rs764565412
• ExAC: 16:70517817 T / G
• gnomAD v2: 16-70517817-T-G
• gnomAD v3: 16-70483914-T-G
• gnomAD v4: 16-70483914-T-G
• MyVariant Identifiers: chr16:g.70517817T>G (hg19) ; chr16:g.70483914T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483914T>G , CM000678.2:g.70483914T>G	GRCh38
NC_000016.9:g.70517817T>G , CM000678.1:g.70517817T>G	GRCh37
NC_000016.8:g.69075318T>G	NCBI36
NG_027529.1:g.44641A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1842A>C	ENSP00000461912.2:n.*1842A>C
ENST00000703106.1:c.1811A>C	ENSP00000515173.1:n.1811A>C
ENST00000703107.1:c.*1695A>C	ENSP00000515174.1:n.*1695A>C
ENST00000703108.1:c.*214A>C	ENSP00000515175.1:n.*214A>C
ENST00000703109.1:c.1799A>C	ENSP00000515176.1:p.Lys600Thr
ENST00000703110.1:c.*1268A>C	ENSP00000515177.1:n.*1268A>C
ENST00000703111.1:n.1773A>C
ENST00000703112.1:n.2539A>C
ENST00000703113.1:c.*1179A>C	ENSP00000515178.1:n.*1179A>C
ENST00000703114.1:c.*415A>C	ENSP00000515179.1:n.*415A>C
ENST00000703115.1:c.879A>C	ENSP00000515180.1:n.879A>C
ENST00000323786.10:c.1766A>C MANE Select	ENSP00000315775.5:p.Lys589Thr
ENST00000564415.6:c.*1546A>C	ENSP00000456653.2:n.*1546A>C
ENST00000674443.1:c.1691A>C	ENSP00000501405.1:p.Lys564Thr
ENST00000323786.9:c.1766A>C	ENSP00000315775.5:p.Lys589Thr
ENST00000393612.8:c.1703A>C	ENSP00000377236.5:p.Lys568Thr
ENST00000482252.5:c.1913A>C	ENSP00000432802.1:n.1913A>C
ENST00000526700.5:n.942A>C
ENST00000530314.5:n.2445A>C
ENST00000564315.1:n.226A>C
ENST00000564415.5:c.*1546A>C	ENSP00000456653.1:n.*1546A>C
NM_001195139.1:c.1703A>C	NP_001182068.1:p.Lys568Thr
NM_015386.2:c.1766A>C	NP_056201.2:p.Lys589Thr
XM_011522981.1:c.1340A>C	XP_011521283.1:p.Lys447Thr
XR_933266.1:n.1712A>C
XR_933267.1:n.1712A>C
XM_011522981.3:c.1340A>C	XP_011521283.1:p.Lys447Thr
XM_024450224.1:c.785A>C	XP_024305992.1:p.Lys262Thr
XR_001751889.1:n.1649A>C
XR_933266.2:n.1712A>C
NM_015386.3:c.1766A>C MANE Select	NP_056201.2:p.Lys589Thr
NM_001195139.2:c.1691A>C	NP_001182068.2:p.Lys564Thr
NM_001365426.1:c.1340A>C	NP_001352355.1:p.Lys447Thr
NR_158212.1:n.1725A>C