Canonical Allele Identifier: CA396578230

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515329G>A (hg19) ; chr16:g.70481426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481426G>A , CM000678.2:g.70481426G>A	GRCh38
NC_000016.9:g.70515329G>A , CM000678.1:g.70515329G>A	GRCh37
NC_000016.8:g.69072830G>A	NCBI36
NG_027529.1:g.47129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2244C>T	ENSP00000461912.2:n.*2244C>T
ENST00000703106.1:c.2213C>T	ENSP00000515173.1:n.2213C>T
ENST00000703107.1:c.*2097C>T	ENSP00000515174.1:n.*2097C>T
ENST00000703108.1:c.*616C>T	ENSP00000515175.1:n.*616C>T
ENST00000703109.1:c.2201C>T	ENSP00000515176.1:p.Thr734Ile
ENST00000703110.1:c.*1670C>T	ENSP00000515177.1:n.*1670C>T
ENST00000703111.1:n.2451C>T
ENST00000703112.1:n.3112C>T
ENST00000703113.1:c.*1581C>T	ENSP00000515178.1:n.*1581C>T
ENST00000703114.1:c.*817C>T	ENSP00000515179.1:n.*817C>T
ENST00000703115.1:c.1281C>T	ENSP00000515180.1:n.1281C>T
ENST00000323786.10:c.2168C>T MANE Select	ENSP00000315775.5:p.Thr723Ile
ENST00000564415.6:c.*1948C>T	ENSP00000456653.2:n.*1948C>T
ENST00000674443.1:c.2093C>T	ENSP00000501405.1:p.Thr698Ile
ENST00000323786.9:c.2168C>T	ENSP00000315775.5:p.Thr723Ile
ENST00000393612.8:c.2105C>T	ENSP00000377236.5:p.Thr702Ile
ENST00000482252.5:c.2315C>T	ENSP00000432802.1:n.2315C>T
ENST00000526700.5:n.1344C>T
ENST00000530314.5:n.2847C>T
ENST00000564415.5:c.*1948C>T	ENSP00000456653.1:n.*1948C>T
ENST00000565715.1:c.230C>T	ENSP00000455693.1:p.Thr77Ile
NM_001195139.1:c.2105C>T	NP_001182068.1:p.Thr702Ile
NM_015386.2:c.2168C>T	NP_056201.2:p.Thr723Ile
XM_011522981.1:c.1742C>T	XP_011521283.1:p.Thr581Ile
XM_011522981.3:c.1742C>T	XP_011521283.1:p.Thr581Ile
XM_024450224.1:c.1187C>T	XP_024305992.1:p.Thr396Ile
XR_933266.2:n.2114C>T
NM_015386.3:c.2168C>T MANE Select	NP_056201.2:p.Thr723Ile
NM_001195139.2:c.2093C>T	NP_001182068.2:p.Thr698Ile
NM_001365426.1:c.1742C>T	NP_001352355.1:p.Thr581Ile
NR_158212.1:n.2127C>T