Canonical Allele Identifier: CA396578634

Gene: COG4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2184T>G	ENSP00000461912.2:n.*2184T>G
ENST00000703106.1:c.2153T>G	ENSP00000515173.1:n.2153T>G
ENST00000703107.1:c.*2037T>G	ENSP00000515174.1:n.*2037T>G
ENST00000703108.1:c.*556T>G	ENSP00000515175.1:n.*556T>G
ENST00000703109.1:c.2141T>G	ENSP00000515176.1:p.Leu714Arg
ENST00000703110.1:c.*1610T>G	ENSP00000515177.1:n.*1610T>G
ENST00000703111.1:n.2391T>G
ENST00000703112.1:n.3052T>G
ENST00000703113.1:c.*1521T>G	ENSP00000515178.1:n.*1521T>G
ENST00000703114.1:c.*757T>G	ENSP00000515179.1:n.*757T>G
ENST00000703115.1:c.1221T>G	ENSP00000515180.1:n.1221T>G
ENST00000323786.10:c.2108T>G MANE Select	ENSP00000315775.5:p.Leu703Arg
ENST00000564415.6:c.*1888T>G	ENSP00000456653.2:n.*1888T>G
ENST00000674443.1:c.2033T>G	ENSP00000501405.1:p.Leu678Arg
ENST00000323786.9:c.2108T>G	ENSP00000315775.5:p.Leu703Arg
ENST00000393612.8:c.2045T>G	ENSP00000377236.5:p.Leu682Arg
ENST00000482252.5:c.2255T>G	ENSP00000432802.1:n.2255T>G
ENST00000526700.5:n.1284T>G
ENST00000530314.5:n.2787T>G
ENST00000564415.5:c.*1888T>G	ENSP00000456653.1:n.*1888T>G
ENST00000565715.1:c.170T>G	ENSP00000455693.1:p.Leu57Arg
NM_001195139.1:c.2045T>G	NP_001182068.1:p.Leu682Arg
NM_015386.2:c.2108T>G	NP_056201.2:p.Leu703Arg
XM_011522981.1:c.1682T>G	XP_011521283.1:p.Leu561Arg
XM_011522981.3:c.1682T>G	XP_011521283.1:p.Leu561Arg
XM_024450224.1:c.1127T>G	XP_024305992.1:p.Leu376Arg
XR_001751889.1:n.1991T>G
XR_933266.2:n.2054T>G
NM_015386.3:c.2108T>G MANE Select	NP_056201.2:p.Leu703Arg
NM_001195139.2:c.2033T>G	NP_001182068.2:p.Leu678Arg
NM_001365426.1:c.1682T>G	NP_001352355.1:p.Leu561Arg
NR_158212.1:n.2067T>G