Canonical Allele Identifier: CA496228648

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517768T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483865T>A , CM000678.2:g.70483865T>A	GRCh38
NC_000016.9:g.70517768T>A , CM000678.1:g.70517768T>A	GRCh37
NC_000016.8:g.69075269T>A	NCBI36
NG_027529.1:g.44690A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1891A>T	ENSP00000461912.2:n.*1891A>T
ENST00000703106.1:c.1860A>T	ENSP00000515173.1:n.1860A>T
ENST00000703107.1:c.*1744A>T	ENSP00000515174.1:n.*1744A>T
ENST00000703108.1:c.*263A>T	ENSP00000515175.1:n.*263A>T
ENST00000703109.1:c.1848A>T	ENSP00000515176.1:p.Arg616=
ENST00000703110.1:c.*1317A>T	ENSP00000515177.1:n.*1317A>T
ENST00000703111.1:n.1822A>T
ENST00000703112.1:n.2588A>T
ENST00000703113.1:c.*1228A>T	ENSP00000515178.1:n.*1228A>T
ENST00000703114.1:c.*464A>T	ENSP00000515179.1:n.*464A>T
ENST00000703115.1:c.928A>T	ENSP00000515180.1:n.928A>T
ENST00000323786.10:c.1815A>T MANE Select	ENSP00000315775.5:p.Arg605=
ENST00000564415.6:c.*1595A>T	ENSP00000456653.2:n.*1595A>T
ENST00000674443.1:c.1740A>T	ENSP00000501405.1:p.Arg580=
ENST00000323786.9:c.1815A>T	ENSP00000315775.5:p.Arg605=
ENST00000393612.8:c.1752A>T	ENSP00000377236.5:p.Arg584=
ENST00000482252.5:c.1962A>T	ENSP00000432802.1:n.1962A>T
ENST00000526700.5:n.991A>T
ENST00000530314.5:n.2494A>T
ENST00000564315.1:n.275A>T
ENST00000564415.5:c.*1595A>T	ENSP00000456653.1:n.*1595A>T
NM_001195139.1:c.1752A>T	NP_001182068.1:p.Arg584=
NM_015386.2:c.1815A>T	NP_056201.2:p.Arg605=
XM_011522981.1:c.1389A>T	XP_011521283.1:p.Arg463=
XR_933266.1:n.1761A>T
XR_933267.1:n.1761A>T
XM_011522981.3:c.1389A>T	XP_011521283.1:p.Arg463=
XM_024450224.1:c.834A>T	XP_024305992.1:p.Arg278=
XR_001751889.1:n.1698A>T
XR_933266.2:n.1761A>T
NM_015386.3:c.1815A>T MANE Select	NP_056201.2:p.Arg605=
NM_001195139.2:c.1740A>T	NP_001182068.2:p.Arg580=
NM_001365426.1:c.1389A>T	NP_001352355.1:p.Arg463=
NR_158212.1:n.1774A>T