Canonical Allele Identifier: CA496227799

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515328G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481425G>A , CM000678.2:g.70481425G>A	GRCh38
NC_000016.9:g.70515328G>A , CM000678.1:g.70515328G>A	GRCh37
NC_000016.8:g.69072829G>A	NCBI36
NG_027529.1:g.47130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2245C>T	ENSP00000461912.2:n.*2245C>T
ENST00000703106.1:c.2214C>T	ENSP00000515173.1:n.2214C>T
ENST00000703107.1:c.*2098C>T	ENSP00000515174.1:n.*2098C>T
ENST00000703108.1:c.*617C>T	ENSP00000515175.1:n.*617C>T
ENST00000703109.1:c.2202C>T	ENSP00000515176.1:p.Thr734=
ENST00000703110.1:c.*1671C>T	ENSP00000515177.1:n.*1671C>T
ENST00000703111.1:n.2452C>T
ENST00000703112.1:n.3113C>T
ENST00000703113.1:c.*1582C>T	ENSP00000515178.1:n.*1582C>T
ENST00000703114.1:c.*818C>T	ENSP00000515179.1:n.*818C>T
ENST00000703115.1:c.1282C>T	ENSP00000515180.1:n.1282C>T
ENST00000323786.10:c.2169C>T MANE Select	ENSP00000315775.5:p.Thr723=
ENST00000564415.6:c.*1949C>T	ENSP00000456653.2:n.*1949C>T
ENST00000674443.1:c.2094C>T	ENSP00000501405.1:p.Thr698=
ENST00000323786.9:c.2169C>T	ENSP00000315775.5:p.Thr723=
ENST00000393612.8:c.2106C>T	ENSP00000377236.5:p.Thr702=
ENST00000482252.5:c.2316C>T	ENSP00000432802.1:n.2316C>T
ENST00000526700.5:n.1345C>T
ENST00000530314.5:n.2848C>T
ENST00000564415.5:c.*1949C>T	ENSP00000456653.1:n.*1949C>T
ENST00000565715.1:c.231C>T	ENSP00000455693.1:p.Thr77=
NM_001195139.1:c.2106C>T	NP_001182068.1:p.Thr702=
NM_015386.2:c.2169C>T	NP_056201.2:p.Thr723=
XM_011522981.1:c.1743C>T	XP_011521283.1:p.Thr581=
XM_011522981.3:c.1743C>T	XP_011521283.1:p.Thr581=
XM_024450224.1:c.1188C>T	XP_024305992.1:p.Thr396=
XR_933266.2:n.2115C>T
NM_015386.3:c.2169C>T MANE Select	NP_056201.2:p.Thr723=
NM_001195139.2:c.2094C>T	NP_001182068.2:p.Thr698=
NM_001365426.1:c.1743C>T	NP_001352355.1:p.Thr581=
NR_158212.1:n.2128C>T