Canonical Allele Identifier: CA496227790

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515315G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481412G>T , CM000678.2:g.70481412G>T	GRCh38
NC_000016.9:g.70515315G>T , CM000678.1:g.70515315G>T	GRCh37
NC_000016.8:g.69072816G>T	NCBI36
NG_027529.1:g.47143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2258C>A	ENSP00000461912.2:n.*2258C>A
ENST00000703106.1:c.2227C>A	ENSP00000515173.1:n.2227C>A
ENST00000703107.1:c.*2111C>A	ENSP00000515174.1:n.*2111C>A
ENST00000703108.1:c.*630C>A	ENSP00000515175.1:n.*630C>A
ENST00000703109.1:c.2215C>A	ENSP00000515176.1:p.Arg739=
ENST00000703110.1:c.*1684C>A	ENSP00000515177.1:n.*1684C>A
ENST00000703111.1:n.2465C>A
ENST00000703112.1:n.3126C>A
ENST00000703113.1:c.*1595C>A	ENSP00000515178.1:n.*1595C>A
ENST00000703114.1:c.*831C>A	ENSP00000515179.1:n.*831C>A
ENST00000703115.1:c.1295C>A	ENSP00000515180.1:n.1295C>A
ENST00000323786.10:c.2182C>A MANE Select	ENSP00000315775.5:p.Arg728=
ENST00000564415.6:c.*1962C>A	ENSP00000456653.2:n.*1962C>A
ENST00000674443.1:c.2107C>A	ENSP00000501405.1:p.Arg703=
ENST00000323786.9:c.2182C>A	ENSP00000315775.5:p.Arg728=
ENST00000393612.8:c.2119C>A	ENSP00000377236.5:p.Arg707=
ENST00000482252.5:c.2329C>A	ENSP00000432802.1:n.2329C>A
ENST00000526700.5:n.1358C>A
ENST00000530314.5:n.2861C>A
ENST00000564415.5:c.*1962C>A	ENSP00000456653.1:n.*1962C>A
ENST00000565715.1:c.244C>A	ENSP00000455693.1:p.Arg82=
NM_001195139.1:c.2119C>A	NP_001182068.1:p.Arg707=
NM_015386.2:c.2182C>A	NP_056201.2:p.Arg728=
XM_011522981.1:c.1756C>A	XP_011521283.1:p.Arg586=
XM_011522981.3:c.1756C>A	XP_011521283.1:p.Arg586=
XM_024450224.1:c.1201C>A	XP_024305992.1:p.Arg401=
XR_933266.2:n.2128C>A
NM_015386.3:c.2182C>A MANE Select	NP_056201.2:p.Arg728=
NM_001195139.2:c.2107C>A	NP_001182068.2:p.Arg703=
NM_001365426.1:c.1756C>A	NP_001352355.1:p.Arg586=
NR_158212.1:n.2141C>A