Canonical Allele Identifier: CA496228699

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517798A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483895A>G , CM000678.2:g.70483895A>G	GRCh38
NC_000016.9:g.70517798A>G , CM000678.1:g.70517798A>G	GRCh37
NC_000016.8:g.69075299A>G	NCBI36
NG_027529.1:g.44660T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1861T>C	ENSP00000461912.2:n.*1861T>C
ENST00000703106.1:c.1830T>C	ENSP00000515173.1:n.1830T>C
ENST00000703107.1:c.*1714T>C	ENSP00000515174.1:n.*1714T>C
ENST00000703108.1:c.*233T>C	ENSP00000515175.1:n.*233T>C
ENST00000703109.1:c.1818T>C	ENSP00000515176.1:p.Ser606=
ENST00000703110.1:c.*1287T>C	ENSP00000515177.1:n.*1287T>C
ENST00000703111.1:n.1792T>C
ENST00000703112.1:n.2558T>C
ENST00000703113.1:c.*1198T>C	ENSP00000515178.1:n.*1198T>C
ENST00000703114.1:c.*434T>C	ENSP00000515179.1:n.*434T>C
ENST00000703115.1:c.898T>C	ENSP00000515180.1:n.898T>C
ENST00000323786.10:c.1785T>C MANE Select	ENSP00000315775.5:p.Ser595=
ENST00000564415.6:c.*1565T>C	ENSP00000456653.2:n.*1565T>C
ENST00000674443.1:c.1710T>C	ENSP00000501405.1:p.Ser570=
ENST00000323786.9:c.1785T>C	ENSP00000315775.5:p.Ser595=
ENST00000393612.8:c.1722T>C	ENSP00000377236.5:p.Ser574=
ENST00000482252.5:c.1932T>C	ENSP00000432802.1:n.1932T>C
ENST00000526700.5:n.961T>C
ENST00000530314.5:n.2464T>C
ENST00000564315.1:n.245T>C
ENST00000564415.5:c.*1565T>C	ENSP00000456653.1:n.*1565T>C
NM_001195139.1:c.1722T>C	NP_001182068.1:p.Ser574=
NM_015386.2:c.1785T>C	NP_056201.2:p.Ser595=
XM_011522981.1:c.1359T>C	XP_011521283.1:p.Ser453=
XR_933266.1:n.1731T>C
XR_933267.1:n.1731T>C
XM_011522981.3:c.1359T>C	XP_011521283.1:p.Ser453=
XM_024450224.1:c.804T>C	XP_024305992.1:p.Ser268=
XR_001751889.1:n.1668T>C
XR_933266.2:n.1731T>C
NM_015386.3:c.1785T>C MANE Select	NP_056201.2:p.Ser595=
NM_001195139.2:c.1710T>C	NP_001182068.2:p.Ser570=
NM_001365426.1:c.1359T>C	NP_001352355.1:p.Ser453=
NR_158212.1:n.1744T>C