Canonical Allele Identifier: CA496228755

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517855G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483952G>A , CM000678.2:g.70483952G>A	GRCh38
NC_000016.9:g.70517855G>A , CM000678.1:g.70517855G>A	GRCh37
NC_000016.8:g.69075356G>A	NCBI36
NG_027529.1:g.44603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1804C>T	ENSP00000461912.2:n.*1804C>T
ENST00000703106.1:c.1773C>T	ENSP00000515173.1:n.1773C>T
ENST00000703107.1:c.*1657C>T	ENSP00000515174.1:n.*1657C>T
ENST00000703108.1:c.*176C>T	ENSP00000515175.1:n.*176C>T
ENST00000703109.1:c.1761C>T	ENSP00000515176.1:p.Leu587=
ENST00000703110.1:c.*1230C>T	ENSP00000515177.1:n.*1230C>T
ENST00000703111.1:n.1735C>T
ENST00000703112.1:n.2501C>T
ENST00000703113.1:c.*1141C>T	ENSP00000515178.1:n.*1141C>T
ENST00000703114.1:c.*377C>T	ENSP00000515179.1:n.*377C>T
ENST00000703115.1:c.841C>T	ENSP00000515180.1:n.841C>T
ENST00000323786.10:c.1728C>T MANE Select	ENSP00000315775.5:p.Leu576=
ENST00000564415.6:c.*1508C>T	ENSP00000456653.2:n.*1508C>T
ENST00000674443.1:c.1653C>T	ENSP00000501405.1:p.Leu551=
ENST00000323786.9:c.1728C>T	ENSP00000315775.5:p.Leu576=
ENST00000393612.8:c.1665C>T	ENSP00000377236.5:p.Leu555=
ENST00000482252.5:c.1875C>T	ENSP00000432802.1:n.1875C>T
ENST00000526700.5:n.904C>T
ENST00000530314.5:n.2407C>T
ENST00000564315.1:n.188C>T
ENST00000564415.5:c.*1508C>T	ENSP00000456653.1:n.*1508C>T
NM_001195139.1:c.1665C>T	NP_001182068.1:p.Leu555=
NM_015386.2:c.1728C>T	NP_056201.2:p.Leu576=
XM_011522981.1:c.1302C>T	XP_011521283.1:p.Leu434=
XR_933266.1:n.1674C>T
XR_933267.1:n.1674C>T
XM_011522981.3:c.1302C>T	XP_011521283.1:p.Leu434=
XM_024450224.1:c.747C>T	XP_024305992.1:p.Leu249=
XR_001751889.1:n.1611C>T
XR_933266.2:n.1674C>T
NM_015386.3:c.1728C>T MANE Select	NP_056201.2:p.Leu576=
NM_001195139.2:c.1653C>T	NP_001182068.2:p.Leu551=
NM_001365426.1:c.1302C>T	NP_001352355.1:p.Leu434=
NR_158212.1:n.1687C>T