Canonical Allele Identifier: CA396580684

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517807G>T (hg19) ; chr16:g.70483904G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483904G>T , CM000678.2:g.70483904G>T	GRCh38
NC_000016.9:g.70517807G>T , CM000678.1:g.70517807G>T	GRCh37
NC_000016.8:g.69075308G>T	NCBI36
NG_027529.1:g.44651C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1852C>A	ENSP00000461912.2:n.*1852C>A
ENST00000703106.1:c.1821C>A	ENSP00000515173.1:n.1821C>A
ENST00000703107.1:c.*1705C>A	ENSP00000515174.1:n.*1705C>A
ENST00000703108.1:c.*224C>A	ENSP00000515175.1:n.*224C>A
ENST00000703109.1:c.1809C>A	ENSP00000515176.1:p.Ser603Arg
ENST00000703110.1:c.*1278C>A	ENSP00000515177.1:n.*1278C>A
ENST00000703111.1:n.1783C>A
ENST00000703112.1:n.2549C>A
ENST00000703113.1:c.*1189C>A	ENSP00000515178.1:n.*1189C>A
ENST00000703114.1:c.*425C>A	ENSP00000515179.1:n.*425C>A
ENST00000703115.1:c.889C>A	ENSP00000515180.1:n.889C>A
ENST00000323786.10:c.1776C>A MANE Select	ENSP00000315775.5:p.Ser592Arg
ENST00000564415.6:c.*1556C>A	ENSP00000456653.2:n.*1556C>A
ENST00000674443.1:c.1701C>A	ENSP00000501405.1:p.Ser567Arg
ENST00000323786.9:c.1776C>A	ENSP00000315775.5:p.Ser592Arg
ENST00000393612.8:c.1713C>A	ENSP00000377236.5:p.Ser571Arg
ENST00000482252.5:c.1923C>A	ENSP00000432802.1:n.1923C>A
ENST00000526700.5:n.952C>A
ENST00000530314.5:n.2455C>A
ENST00000564315.1:n.236C>A
ENST00000564415.5:c.*1556C>A	ENSP00000456653.1:n.*1556C>A
NM_001195139.1:c.1713C>A	NP_001182068.1:p.Ser571Arg
NM_015386.2:c.1776C>A	NP_056201.2:p.Ser592Arg
XM_011522981.1:c.1350C>A	XP_011521283.1:p.Ser450Arg
XR_933266.1:n.1722C>A
XR_933267.1:n.1722C>A
XM_011522981.3:c.1350C>A	XP_011521283.1:p.Ser450Arg
XM_024450224.1:c.795C>A	XP_024305992.1:p.Ser265Arg
XR_001751889.1:n.1659C>A
XR_933266.2:n.1722C>A
NM_015386.3:c.1776C>A MANE Select	NP_056201.2:p.Ser592Arg
NM_001195139.2:c.1701C>A	NP_001182068.2:p.Ser567Arg
NM_001365426.1:c.1350C>A	NP_001352355.1:p.Ser450Arg
NR_158212.1:n.1735C>A