Canonical Allele Identifier: CA496227831

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515373A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481470A>G , CM000678.2:g.70481470A>G	GRCh38
NC_000016.9:g.70515373A>G , CM000678.1:g.70515373A>G	GRCh37
NC_000016.8:g.69072874A>G	NCBI36
NG_027529.1:g.47085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2200T>C	ENSP00000461912.2:n.*2200T>C
ENST00000703106.1:c.2169T>C	ENSP00000515173.1:n.2169T>C
ENST00000703107.1:c.*2053T>C	ENSP00000515174.1:n.*2053T>C
ENST00000703108.1:c.*572T>C	ENSP00000515175.1:n.*572T>C
ENST00000703109.1:c.2157T>C	ENSP00000515176.1:p.Phe719=
ENST00000703110.1:c.*1626T>C	ENSP00000515177.1:n.*1626T>C
ENST00000703111.1:n.2407T>C
ENST00000703112.1:n.3068T>C
ENST00000703113.1:c.*1537T>C	ENSP00000515178.1:n.*1537T>C
ENST00000703114.1:c.*773T>C	ENSP00000515179.1:n.*773T>C
ENST00000703115.1:c.1237T>C	ENSP00000515180.1:n.1237T>C
ENST00000323786.10:c.2124T>C MANE Select	ENSP00000315775.5:p.Phe708=
ENST00000564415.6:c.*1904T>C	ENSP00000456653.2:n.*1904T>C
ENST00000674443.1:c.2049T>C	ENSP00000501405.1:p.Phe683=
ENST00000323786.9:c.2124T>C	ENSP00000315775.5:p.Phe708=
ENST00000393612.8:c.2061T>C	ENSP00000377236.5:p.Phe687=
ENST00000482252.5:c.2271T>C	ENSP00000432802.1:n.2271T>C
ENST00000526700.5:n.1300T>C
ENST00000530314.5:n.2803T>C
ENST00000564415.5:c.*1904T>C	ENSP00000456653.1:n.*1904T>C
ENST00000565715.1:c.186T>C	ENSP00000455693.1:p.Phe62=
NM_001195139.1:c.2061T>C	NP_001182068.1:p.Phe687=
NM_015386.2:c.2124T>C	NP_056201.2:p.Phe708=
XM_011522981.1:c.1698T>C	XP_011521283.1:p.Phe566=
XM_011522981.3:c.1698T>C	XP_011521283.1:p.Phe566=
XM_024450224.1:c.1143T>C	XP_024305992.1:p.Phe381=
XR_001751889.1:n.2007T>C
XR_933266.2:n.2070T>C
NM_015386.3:c.2124T>C MANE Select	NP_056201.2:p.Phe708=
NM_001195139.2:c.2049T>C	NP_001182068.2:p.Phe683=
NM_001365426.1:c.1698T>C	NP_001352355.1:p.Phe566=
NR_158212.1:n.2083T>C