Canonical Allele Identifier: CA396578320

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515342G>T (hg19) ; chr16:g.70481439G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481439G>T , CM000678.2:g.70481439G>T	GRCh38
NC_000016.9:g.70515342G>T , CM000678.1:g.70515342G>T	GRCh37
NC_000016.8:g.69072843G>T	NCBI36
NG_027529.1:g.47116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2231C>A	ENSP00000461912.2:n.*2231C>A
ENST00000703106.1:c.2200C>A	ENSP00000515173.1:n.2200C>A
ENST00000703107.1:c.*2084C>A	ENSP00000515174.1:n.*2084C>A
ENST00000703108.1:c.*603C>A	ENSP00000515175.1:n.*603C>A
ENST00000703109.1:c.2188C>A	ENSP00000515176.1:p.Leu730Ile
ENST00000703110.1:c.*1657C>A	ENSP00000515177.1:n.*1657C>A
ENST00000703111.1:n.2438C>A
ENST00000703112.1:n.3099C>A
ENST00000703113.1:c.*1568C>A	ENSP00000515178.1:n.*1568C>A
ENST00000703114.1:c.*804C>A	ENSP00000515179.1:n.*804C>A
ENST00000703115.1:c.1268C>A	ENSP00000515180.1:n.1268C>A
ENST00000323786.10:c.2155C>A MANE Select	ENSP00000315775.5:p.Leu719Ile
ENST00000564415.6:c.*1935C>A	ENSP00000456653.2:n.*1935C>A
ENST00000674443.1:c.2080C>A	ENSP00000501405.1:p.Leu694Ile
ENST00000323786.9:c.2155C>A	ENSP00000315775.5:p.Leu719Ile
ENST00000393612.8:c.2092C>A	ENSP00000377236.5:p.Leu698Ile
ENST00000482252.5:c.2302C>A	ENSP00000432802.1:n.2302C>A
ENST00000526700.5:n.1331C>A
ENST00000530314.5:n.2834C>A
ENST00000564415.5:c.*1935C>A	ENSP00000456653.1:n.*1935C>A
ENST00000565715.1:c.217C>A	ENSP00000455693.1:p.Leu73Ile
NM_001195139.1:c.2092C>A	NP_001182068.1:p.Leu698Ile
NM_015386.2:c.2155C>A	NP_056201.2:p.Leu719Ile
XM_011522981.1:c.1729C>A	XP_011521283.1:p.Leu577Ile
XM_011522981.3:c.1729C>A	XP_011521283.1:p.Leu577Ile
XM_024450224.1:c.1174C>A	XP_024305992.1:p.Leu392Ile
XR_933266.2:n.2101C>A
NM_015386.3:c.2155C>A MANE Select	NP_056201.2:p.Leu719Ile
NM_001195139.2:c.2080C>A	NP_001182068.2:p.Leu694Ile
NM_001365426.1:c.1729C>A	NP_001352355.1:p.Leu577Ile
NR_158212.1:n.2114C>A