Canonical Allele Identifier: CA396580634

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517784A>G (hg19) ; chr16:g.70483881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483881A>G , CM000678.2:g.70483881A>G	GRCh38
NC_000016.9:g.70517784A>G , CM000678.1:g.70517784A>G	GRCh37
NC_000016.8:g.69075285A>G	NCBI36
NG_027529.1:g.44674T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1875T>C	ENSP00000461912.2:n.*1875T>C
ENST00000703106.1:c.1844T>C	ENSP00000515173.1:n.1844T>C
ENST00000703107.1:c.*1728T>C	ENSP00000515174.1:n.*1728T>C
ENST00000703108.1:c.*247T>C	ENSP00000515175.1:n.*247T>C
ENST00000703109.1:c.1832T>C	ENSP00000515176.1:p.Val611Ala
ENST00000703110.1:c.*1301T>C	ENSP00000515177.1:n.*1301T>C
ENST00000703111.1:n.1806T>C
ENST00000703112.1:n.2572T>C
ENST00000703113.1:c.*1212T>C	ENSP00000515178.1:n.*1212T>C
ENST00000703114.1:c.*448T>C	ENSP00000515179.1:n.*448T>C
ENST00000703115.1:c.912T>C	ENSP00000515180.1:n.912T>C
ENST00000323786.10:c.1799T>C MANE Select	ENSP00000315775.5:p.Val600Ala
ENST00000564415.6:c.*1579T>C	ENSP00000456653.2:n.*1579T>C
ENST00000674443.1:c.1724T>C	ENSP00000501405.1:p.Val575Ala
ENST00000323786.9:c.1799T>C	ENSP00000315775.5:p.Val600Ala
ENST00000393612.8:c.1736T>C	ENSP00000377236.5:p.Val579Ala
ENST00000482252.5:c.1946T>C	ENSP00000432802.1:n.1946T>C
ENST00000526700.5:n.975T>C
ENST00000530314.5:n.2478T>C
ENST00000564315.1:n.259T>C
ENST00000564415.5:c.*1579T>C	ENSP00000456653.1:n.*1579T>C
NM_001195139.1:c.1736T>C	NP_001182068.1:p.Val579Ala
NM_015386.2:c.1799T>C	NP_056201.2:p.Val600Ala
XM_011522981.1:c.1373T>C	XP_011521283.1:p.Val458Ala
XR_933266.1:n.1745T>C
XR_933267.1:n.1745T>C
XM_011522981.3:c.1373T>C	XP_011521283.1:p.Val458Ala
XM_024450224.1:c.818T>C	XP_024305992.1:p.Val273Ala
XR_001751889.1:n.1682T>C
XR_933266.2:n.1745T>C
NM_015386.3:c.1799T>C MANE Select	NP_056201.2:p.Val600Ala
NM_001195139.2:c.1724T>C	NP_001182068.2:p.Val575Ala
NM_001365426.1:c.1373T>C	NP_001352355.1:p.Val458Ala
NR_158212.1:n.1758T>C