Canonical Allele Identifier: CA396578637

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515389A>T (hg19) ; chr16:g.70481486A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481486A>T , CM000678.2:g.70481486A>T	GRCh38
NC_000016.9:g.70515389A>T , CM000678.1:g.70515389A>T	GRCh37
NC_000016.8:g.69072890A>T	NCBI36
NG_027529.1:g.47069T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2184T>A	ENSP00000461912.2:n.*2184T>A
ENST00000703106.1:c.2153T>A	ENSP00000515173.1:n.2153T>A
ENST00000703107.1:c.*2037T>A	ENSP00000515174.1:n.*2037T>A
ENST00000703108.1:c.*556T>A	ENSP00000515175.1:n.*556T>A
ENST00000703109.1:c.2141T>A	ENSP00000515176.1:p.Leu714Gln
ENST00000703110.1:c.*1610T>A	ENSP00000515177.1:n.*1610T>A
ENST00000703111.1:n.2391T>A
ENST00000703112.1:n.3052T>A
ENST00000703113.1:c.*1521T>A	ENSP00000515178.1:n.*1521T>A
ENST00000703114.1:c.*757T>A	ENSP00000515179.1:n.*757T>A
ENST00000703115.1:c.1221T>A	ENSP00000515180.1:n.1221T>A
ENST00000323786.10:c.2108T>A MANE Select	ENSP00000315775.5:p.Leu703Gln
ENST00000564415.6:c.*1888T>A	ENSP00000456653.2:n.*1888T>A
ENST00000674443.1:c.2033T>A	ENSP00000501405.1:p.Leu678Gln
ENST00000323786.9:c.2108T>A	ENSP00000315775.5:p.Leu703Gln
ENST00000393612.8:c.2045T>A	ENSP00000377236.5:p.Leu682Gln
ENST00000482252.5:c.2255T>A	ENSP00000432802.1:n.2255T>A
ENST00000526700.5:n.1284T>A
ENST00000530314.5:n.2787T>A
ENST00000564415.5:c.*1888T>A	ENSP00000456653.1:n.*1888T>A
ENST00000565715.1:c.170T>A	ENSP00000455693.1:p.Leu57Gln
NM_001195139.1:c.2045T>A	NP_001182068.1:p.Leu682Gln
NM_015386.2:c.2108T>A	NP_056201.2:p.Leu703Gln
XM_011522981.1:c.1682T>A	XP_011521283.1:p.Leu561Gln
XM_011522981.3:c.1682T>A	XP_011521283.1:p.Leu561Gln
XM_024450224.1:c.1127T>A	XP_024305992.1:p.Leu376Gln
XR_001751889.1:n.1991T>A
XR_933266.2:n.2054T>A
NM_015386.3:c.2108T>A MANE Select	NP_056201.2:p.Leu703Gln
NM_001195139.2:c.2033T>A	NP_001182068.2:p.Leu678Gln
NM_001365426.1:c.1682T>A	NP_001352355.1:p.Leu561Gln
NR_158212.1:n.2067T>A