Canonical Allele Identifier: CA496228751

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517843G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483940G>T , CM000678.2:g.70483940G>T	GRCh38
NC_000016.9:g.70517843G>T , CM000678.1:g.70517843G>T	GRCh37
NC_000016.8:g.69075344G>T	NCBI36
NG_027529.1:g.44615C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1816C>A	ENSP00000461912.2:n.*1816C>A
ENST00000703106.1:c.1785C>A	ENSP00000515173.1:n.1785C>A
ENST00000703107.1:c.*1669C>A	ENSP00000515174.1:n.*1669C>A
ENST00000703108.1:c.*188C>A	ENSP00000515175.1:n.*188C>A
ENST00000703109.1:c.1773C>A	ENSP00000515176.1:p.Gly591=
ENST00000703110.1:c.*1242C>A	ENSP00000515177.1:n.*1242C>A
ENST00000703111.1:n.1747C>A
ENST00000703112.1:n.2513C>A
ENST00000703113.1:c.*1153C>A	ENSP00000515178.1:n.*1153C>A
ENST00000703114.1:c.*389C>A	ENSP00000515179.1:n.*389C>A
ENST00000703115.1:c.853C>A	ENSP00000515180.1:n.853C>A
ENST00000323786.10:c.1740C>A MANE Select	ENSP00000315775.5:p.Gly580=
ENST00000564415.6:c.*1520C>A	ENSP00000456653.2:n.*1520C>A
ENST00000674443.1:c.1665C>A	ENSP00000501405.1:p.Gly555=
ENST00000323786.9:c.1740C>A	ENSP00000315775.5:p.Gly580=
ENST00000393612.8:c.1677C>A	ENSP00000377236.5:p.Gly559=
ENST00000482252.5:c.1887C>A	ENSP00000432802.1:n.1887C>A
ENST00000526700.5:n.916C>A
ENST00000530314.5:n.2419C>A
ENST00000564315.1:n.200C>A
ENST00000564415.5:c.*1520C>A	ENSP00000456653.1:n.*1520C>A
NM_001195139.1:c.1677C>A	NP_001182068.1:p.Gly559=
NM_015386.2:c.1740C>A	NP_056201.2:p.Gly580=
XM_011522981.1:c.1314C>A	XP_011521283.1:p.Gly438=
XR_933266.1:n.1686C>A
XR_933267.1:n.1686C>A
XM_011522981.3:c.1314C>A	XP_011521283.1:p.Gly438=
XM_024450224.1:c.759C>A	XP_024305992.1:p.Gly253=
XR_001751889.1:n.1623C>A
XR_933266.2:n.1686C>A
NM_015386.3:c.1740C>A MANE Select	NP_056201.2:p.Gly580=
NM_001195139.2:c.1665C>A	NP_001182068.2:p.Gly555=
NM_001365426.1:c.1314C>A	NP_001352355.1:p.Gly438=
NR_158212.1:n.1699C>A