Canonical Allele Identifier: CA496227796

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515325G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481422G>A , CM000678.2:g.70481422G>A	GRCh38
NC_000016.9:g.70515325G>A , CM000678.1:g.70515325G>A	GRCh37
NC_000016.8:g.69072826G>A	NCBI36
NG_027529.1:g.47133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2248C>T	ENSP00000461912.2:n.*2248C>T
ENST00000703106.1:c.2217C>T	ENSP00000515173.1:n.2217C>T
ENST00000703107.1:c.*2101C>T	ENSP00000515174.1:n.*2101C>T
ENST00000703108.1:c.*620C>T	ENSP00000515175.1:n.*620C>T
ENST00000703109.1:c.2205C>T	ENSP00000515176.1:p.Thr735=
ENST00000703110.1:c.*1674C>T	ENSP00000515177.1:n.*1674C>T
ENST00000703111.1:n.2455C>T
ENST00000703112.1:n.3116C>T
ENST00000703113.1:c.*1585C>T	ENSP00000515178.1:n.*1585C>T
ENST00000703114.1:c.*821C>T	ENSP00000515179.1:n.*821C>T
ENST00000703115.1:c.1285C>T	ENSP00000515180.1:n.1285C>T
ENST00000323786.10:c.2172C>T MANE Select	ENSP00000315775.5:p.Thr724=
ENST00000564415.6:c.*1952C>T	ENSP00000456653.2:n.*1952C>T
ENST00000674443.1:c.2097C>T	ENSP00000501405.1:p.Thr699=
ENST00000323786.9:c.2172C>T	ENSP00000315775.5:p.Thr724=
ENST00000393612.8:c.2109C>T	ENSP00000377236.5:p.Thr703=
ENST00000482252.5:c.2319C>T	ENSP00000432802.1:n.2319C>T
ENST00000526700.5:n.1348C>T
ENST00000530314.5:n.2851C>T
ENST00000564415.5:c.*1952C>T	ENSP00000456653.1:n.*1952C>T
ENST00000565715.1:c.234C>T	ENSP00000455693.1:p.Thr78=
NM_001195139.1:c.2109C>T	NP_001182068.1:p.Thr703=
NM_015386.2:c.2172C>T	NP_056201.2:p.Thr724=
XM_011522981.1:c.1746C>T	XP_011521283.1:p.Thr582=
XM_011522981.3:c.1746C>T	XP_011521283.1:p.Thr582=
XM_024450224.1:c.1191C>T	XP_024305992.1:p.Thr397=
XR_933266.2:n.2118C>T
NM_015386.3:c.2172C>T MANE Select	NP_056201.2:p.Thr724=
NM_001195139.2:c.2097C>T	NP_001182068.2:p.Thr699=
NM_001365426.1:c.1746C>T	NP_001352355.1:p.Thr582=
NR_158212.1:n.2131C>T