Canonical Allele Identifier: CA283483533

Gene: COG4

Linked Data

• dbSNP Id: rs764565412
• MyVariant Identifiers: chr16:g.70517817T>A (hg19) ; chr16:g.70483914T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1842A>T	ENSP00000461912.2:n.*1842A>T
ENST00000703106.1:c.1811A>T	ENSP00000515173.1:n.1811A>T
ENST00000703107.1:c.*1695A>T	ENSP00000515174.1:n.*1695A>T
ENST00000703108.1:c.*214A>T	ENSP00000515175.1:n.*214A>T
ENST00000703109.1:c.1799A>T	ENSP00000515176.1:p.Lys600Met
ENST00000703110.1:c.*1268A>T	ENSP00000515177.1:n.*1268A>T
ENST00000703111.1:n.1773A>T
ENST00000703112.1:n.2539A>T
ENST00000703113.1:c.*1179A>T	ENSP00000515178.1:n.*1179A>T
ENST00000703114.1:c.*415A>T	ENSP00000515179.1:n.*415A>T
ENST00000703115.1:c.879A>T	ENSP00000515180.1:n.879A>T
ENST00000323786.10:c.1766A>T MANE Select	ENSP00000315775.5:p.Lys589Met
ENST00000564415.6:c.*1546A>T	ENSP00000456653.2:n.*1546A>T
ENST00000674443.1:c.1691A>T	ENSP00000501405.1:p.Lys564Met
ENST00000323786.9:c.1766A>T	ENSP00000315775.5:p.Lys589Met
ENST00000393612.8:c.1703A>T	ENSP00000377236.5:p.Lys568Met
ENST00000482252.5:c.1913A>T	ENSP00000432802.1:n.1913A>T
ENST00000526700.5:n.942A>T
ENST00000530314.5:n.2445A>T
ENST00000564315.1:n.226A>T
ENST00000564415.5:c.*1546A>T	ENSP00000456653.1:n.*1546A>T
NM_001195139.1:c.1703A>T	NP_001182068.1:p.Lys568Met
NM_015386.2:c.1766A>T	NP_056201.2:p.Lys589Met
XM_011522981.1:c.1340A>T	XP_011521283.1:p.Lys447Met
XR_933266.1:n.1712A>T
XR_933267.1:n.1712A>T
XM_011522981.3:c.1340A>T	XP_011521283.1:p.Lys447Met
XM_024450224.1:c.785A>T	XP_024305992.1:p.Lys262Met
XR_001751889.1:n.1649A>T
XR_933266.2:n.1712A>T
NM_015386.3:c.1766A>T MANE Select	NP_056201.2:p.Lys589Met
NM_001195139.2:c.1691A>T	NP_001182068.2:p.Lys564Met
NM_001365426.1:c.1340A>T	NP_001352355.1:p.Lys447Met
NR_158212.1:n.1725A>T