Canonical Allele Identifier: CA496227805

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515334C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481431C>G , CM000678.2:g.70481431C>G	GRCh38
NC_000016.9:g.70515334C>G , CM000678.1:g.70515334C>G	GRCh37
NC_000016.8:g.69072835C>G	NCBI36
NG_027529.1:g.47124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2239G>C	ENSP00000461912.2:n.*2239G>C
ENST00000703106.1:c.2208G>C	ENSP00000515173.1:n.2208G>C
ENST00000703107.1:c.*2092G>C	ENSP00000515174.1:n.*2092G>C
ENST00000703108.1:c.*611G>C	ENSP00000515175.1:n.*611G>C
ENST00000703109.1:c.2196G>C	ENSP00000515176.1:p.Thr732=
ENST00000703110.1:c.*1665G>C	ENSP00000515177.1:n.*1665G>C
ENST00000703111.1:n.2446G>C
ENST00000703112.1:n.3107G>C
ENST00000703113.1:c.*1576G>C	ENSP00000515178.1:n.*1576G>C
ENST00000703114.1:c.*812G>C	ENSP00000515179.1:n.*812G>C
ENST00000703115.1:c.1276G>C	ENSP00000515180.1:n.1276G>C
ENST00000323786.10:c.2163G>C MANE Select	ENSP00000315775.5:p.Thr721=
ENST00000564415.6:c.*1943G>C	ENSP00000456653.2:n.*1943G>C
ENST00000674443.1:c.2088G>C	ENSP00000501405.1:p.Thr696=
ENST00000323786.9:c.2163G>C	ENSP00000315775.5:p.Thr721=
ENST00000393612.8:c.2100G>C	ENSP00000377236.5:p.Thr700=
ENST00000482252.5:c.2310G>C	ENSP00000432802.1:n.2310G>C
ENST00000526700.5:n.1339G>C
ENST00000530314.5:n.2842G>C
ENST00000564415.5:c.*1943G>C	ENSP00000456653.1:n.*1943G>C
ENST00000565715.1:c.225G>C	ENSP00000455693.1:p.Thr75=
NM_001195139.1:c.2100G>C	NP_001182068.1:p.Thr700=
NM_015386.2:c.2163G>C	NP_056201.2:p.Thr721=
XM_011522981.1:c.1737G>C	XP_011521283.1:p.Thr579=
XM_011522981.3:c.1737G>C	XP_011521283.1:p.Thr579=
XM_024450224.1:c.1182G>C	XP_024305992.1:p.Thr394=
XR_933266.2:n.2109G>C
NM_015386.3:c.2163G>C MANE Select	NP_056201.2:p.Thr721=
NM_001195139.2:c.2088G>C	NP_001182068.2:p.Thr696=
NM_001365426.1:c.1737G>C	NP_001352355.1:p.Thr579=
NR_158212.1:n.2122G>C