Canonical Allele Identifier: CA396578568

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515375A>G (hg19) ; chr16:g.70481472A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481472A>G , CM000678.2:g.70481472A>G	GRCh38
NC_000016.9:g.70515375A>G , CM000678.1:g.70515375A>G	GRCh37
NC_000016.8:g.69072876A>G	NCBI36
NG_027529.1:g.47083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2198T>C	ENSP00000461912.2:n.*2198T>C
ENST00000703106.1:c.2167T>C	ENSP00000515173.1:n.2167T>C
ENST00000703107.1:c.*2051T>C	ENSP00000515174.1:n.*2051T>C
ENST00000703108.1:c.*570T>C	ENSP00000515175.1:n.*570T>C
ENST00000703109.1:c.2155T>C	ENSP00000515176.1:p.Phe719Leu
ENST00000703110.1:c.*1624T>C	ENSP00000515177.1:n.*1624T>C
ENST00000703111.1:n.2405T>C
ENST00000703112.1:n.3066T>C
ENST00000703113.1:c.*1535T>C	ENSP00000515178.1:n.*1535T>C
ENST00000703114.1:c.*771T>C	ENSP00000515179.1:n.*771T>C
ENST00000703115.1:c.1235T>C	ENSP00000515180.1:n.1235T>C
ENST00000323786.10:c.2122T>C MANE Select	ENSP00000315775.5:p.Phe708Leu
ENST00000564415.6:c.*1902T>C	ENSP00000456653.2:n.*1902T>C
ENST00000674443.1:c.2047T>C	ENSP00000501405.1:p.Phe683Leu
ENST00000323786.9:c.2122T>C	ENSP00000315775.5:p.Phe708Leu
ENST00000393612.8:c.2059T>C	ENSP00000377236.5:p.Phe687Leu
ENST00000482252.5:c.2269T>C	ENSP00000432802.1:n.2269T>C
ENST00000526700.5:n.1298T>C
ENST00000530314.5:n.2801T>C
ENST00000564415.5:c.*1902T>C	ENSP00000456653.1:n.*1902T>C
ENST00000565715.1:c.184T>C	ENSP00000455693.1:p.Phe62Leu
NM_001195139.1:c.2059T>C	NP_001182068.1:p.Phe687Leu
NM_015386.2:c.2122T>C	NP_056201.2:p.Phe708Leu
XM_011522981.1:c.1696T>C	XP_011521283.1:p.Phe566Leu
XM_011522981.3:c.1696T>C	XP_011521283.1:p.Phe566Leu
XM_024450224.1:c.1141T>C	XP_024305992.1:p.Phe381Leu
XR_001751889.1:n.2005T>C
XR_933266.2:n.2068T>C
NM_015386.3:c.2122T>C MANE Select	NP_056201.2:p.Phe708Leu
NM_001195139.2:c.2047T>C	NP_001182068.2:p.Phe683Leu
NM_001365426.1:c.1696T>C	NP_001352355.1:p.Phe566Leu
NR_158212.1:n.2081T>C