Canonical Allele Identifier: CA396580641

Gene: COG4

Linked Data

• dbSNP Id: rs759705702
• MyVariant Identifiers: chr16:g.70517788C>A (hg19) ; chr16:g.70483885C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483885C>A , CM000678.2:g.70483885C>A	GRCh38
NC_000016.9:g.70517788C>A , CM000678.1:g.70517788C>A	GRCh37
NC_000016.8:g.69075289C>A	NCBI36
NG_027529.1:g.44670G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1871G>T	ENSP00000461912.2:n.*1871G>T
ENST00000703106.1:c.1840G>T	ENSP00000515173.1:n.1840G>T
ENST00000703107.1:c.*1724G>T	ENSP00000515174.1:n.*1724G>T
ENST00000703108.1:c.*243G>T	ENSP00000515175.1:n.*243G>T
ENST00000703109.1:c.1828G>T	ENSP00000515176.1:p.Ala610Ser
ENST00000703110.1:c.*1297G>T	ENSP00000515177.1:n.*1297G>T
ENST00000703111.1:n.1802G>T
ENST00000703112.1:n.2568G>T
ENST00000703113.1:c.*1208G>T	ENSP00000515178.1:n.*1208G>T
ENST00000703114.1:c.*444G>T	ENSP00000515179.1:n.*444G>T
ENST00000703115.1:c.908G>T	ENSP00000515180.1:n.908G>T
ENST00000323786.10:c.1795G>T MANE Select	ENSP00000315775.5:p.Ala599Ser
ENST00000564415.6:c.*1575G>T	ENSP00000456653.2:n.*1575G>T
ENST00000674443.1:c.1720G>T	ENSP00000501405.1:p.Ala574Ser
ENST00000323786.9:c.1795G>T	ENSP00000315775.5:p.Ala599Ser
ENST00000393612.8:c.1732G>T	ENSP00000377236.5:p.Ala578Ser
ENST00000482252.5:c.1942G>T	ENSP00000432802.1:n.1942G>T
ENST00000526700.5:n.971G>T
ENST00000530314.5:n.2474G>T
ENST00000564315.1:n.255G>T
ENST00000564415.5:c.*1575G>T	ENSP00000456653.1:n.*1575G>T
NM_001195139.1:c.1732G>T	NP_001182068.1:p.Ala578Ser
NM_015386.2:c.1795G>T	NP_056201.2:p.Ala599Ser
XM_011522981.1:c.1369G>T	XP_011521283.1:p.Ala457Ser
XR_933266.1:n.1741G>T
XR_933267.1:n.1741G>T
XM_011522981.3:c.1369G>T	XP_011521283.1:p.Ala457Ser
XM_024450224.1:c.814G>T	XP_024305992.1:p.Ala272Ser
XR_001751889.1:n.1678G>T
XR_933266.2:n.1741G>T
NM_015386.3:c.1795G>T MANE Select	NP_056201.2:p.Ala599Ser
NM_001195139.2:c.1720G>T	NP_001182068.2:p.Ala574Ser
NM_001365426.1:c.1369G>T	NP_001352355.1:p.Ala457Ser
NR_158212.1:n.1754G>T