Canonical Allele Identifier: CA496227827

Gene: COG4

Linked Data

• dbSNP Id: rs1274552898
• MyVariant Identifiers: chr16:g.70515363G>A (hg19) ; chr16:g.70481460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481460G>A , CM000678.2:g.70481460G>A	GRCh38
NC_000016.9:g.70515363G>A , CM000678.1:g.70515363G>A	GRCh37
NC_000016.8:g.69072864G>A	NCBI36
NG_027529.1:g.47095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2210C>T	ENSP00000461912.2:n.*2210C>T
ENST00000703106.1:c.2179C>T	ENSP00000515173.1:n.2179C>T
ENST00000703107.1:c.*2063C>T	ENSP00000515174.1:n.*2063C>T
ENST00000703108.1:c.*582C>T	ENSP00000515175.1:n.*582C>T
ENST00000703109.1:c.2167C>T	ENSP00000515176.1:p.Leu723=
ENST00000703110.1:c.*1636C>T	ENSP00000515177.1:n.*1636C>T
ENST00000703111.1:n.2417C>T
ENST00000703112.1:n.3078C>T
ENST00000703113.1:c.*1547C>T	ENSP00000515178.1:n.*1547C>T
ENST00000703114.1:c.*783C>T	ENSP00000515179.1:n.*783C>T
ENST00000703115.1:c.1247C>T	ENSP00000515180.1:n.1247C>T
ENST00000323786.10:c.2134C>T MANE Select	ENSP00000315775.5:p.Leu712=
ENST00000564415.6:c.*1914C>T	ENSP00000456653.2:n.*1914C>T
ENST00000674443.1:c.2059C>T	ENSP00000501405.1:p.Leu687=
ENST00000323786.9:c.2134C>T	ENSP00000315775.5:p.Leu712=
ENST00000393612.8:c.2071C>T	ENSP00000377236.5:p.Leu691=
ENST00000482252.5:c.2281C>T	ENSP00000432802.1:n.2281C>T
ENST00000526700.5:n.1310C>T
ENST00000530314.5:n.2813C>T
ENST00000564415.5:c.*1914C>T	ENSP00000456653.1:n.*1914C>T
ENST00000565715.1:c.196C>T	ENSP00000455693.1:p.Leu66=
NM_001195139.1:c.2071C>T	NP_001182068.1:p.Leu691=
NM_015386.2:c.2134C>T	NP_056201.2:p.Leu712=
XM_011522981.1:c.1708C>T	XP_011521283.1:p.Leu570=
XM_011522981.3:c.1708C>T	XP_011521283.1:p.Leu570=
XM_024450224.1:c.1153C>T	XP_024305992.1:p.Leu385=
XR_001751889.1:n.2017C>T
XR_933266.2:n.2080C>T
NM_015386.3:c.2134C>T MANE Select	NP_056201.2:p.Leu712=
NM_001195139.2:c.2059C>T	NP_001182068.2:p.Leu687=
NM_001365426.1:c.1708C>T	NP_001352355.1:p.Leu570=
NR_158212.1:n.2093C>T