Canonical Allele Identifier: CA496227820

Gene: COG4

Linked Data

• gnomAD v4: 16-70481449-G-T
• MyVariant Identifiers: chr16:g.70515352G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481449G>T , CM000678.2:g.70481449G>T	GRCh38
NC_000016.9:g.70515352G>T , CM000678.1:g.70515352G>T	GRCh37
NC_000016.8:g.69072853G>T	NCBI36
NG_027529.1:g.47106C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2221C>A	ENSP00000461912.2:n.*2221C>A
ENST00000703106.1:c.2190C>A	ENSP00000515173.1:n.2190C>A
ENST00000703107.1:c.*2074C>A	ENSP00000515174.1:n.*2074C>A
ENST00000703108.1:c.*593C>A	ENSP00000515175.1:n.*593C>A
ENST00000703109.1:c.2178C>A	ENSP00000515176.1:p.Leu726=
ENST00000703110.1:c.*1647C>A	ENSP00000515177.1:n.*1647C>A
ENST00000703111.1:n.2428C>A
ENST00000703112.1:n.3089C>A
ENST00000703113.1:c.*1558C>A	ENSP00000515178.1:n.*1558C>A
ENST00000703114.1:c.*794C>A	ENSP00000515179.1:n.*794C>A
ENST00000703115.1:c.1258C>A	ENSP00000515180.1:n.1258C>A
ENST00000323786.10:c.2145C>A MANE Select	ENSP00000315775.5:p.Leu715=
ENST00000564415.6:c.*1925C>A	ENSP00000456653.2:n.*1925C>A
ENST00000674443.1:c.2070C>A	ENSP00000501405.1:p.Leu690=
ENST00000323786.9:c.2145C>A	ENSP00000315775.5:p.Leu715=
ENST00000393612.8:c.2082C>A	ENSP00000377236.5:p.Leu694=
ENST00000482252.5:c.2292C>A	ENSP00000432802.1:n.2292C>A
ENST00000526700.5:n.1321C>A
ENST00000530314.5:n.2824C>A
ENST00000564415.5:c.*1925C>A	ENSP00000456653.1:n.*1925C>A
ENST00000565715.1:c.207C>A	ENSP00000455693.1:p.Leu69=
NM_001195139.1:c.2082C>A	NP_001182068.1:p.Leu694=
NM_015386.2:c.2145C>A	NP_056201.2:p.Leu715=
XM_011522981.1:c.1719C>A	XP_011521283.1:p.Leu573=
XM_011522981.3:c.1719C>A	XP_011521283.1:p.Leu573=
XM_024450224.1:c.1164C>A	XP_024305992.1:p.Leu388=
XR_933266.2:n.2091C>A
NM_015386.3:c.2145C>A MANE Select	NP_056201.2:p.Leu715=
NM_001195139.2:c.2070C>A	NP_001182068.2:p.Leu690=
NM_001365426.1:c.1719C>A	NP_001352355.1:p.Leu573=
NR_158212.1:n.2104C>A