Canonical Allele Identifier: CA396580618

Gene: COG4

Linked Data

• dbSNP Id: rs2049067807
• gnomAD v3: 16-70483873-T-C
• gnomAD v4: 16-70483873-T-C
• MyVariant Identifiers: chr16:g.70517776T>C (hg19) ; chr16:g.70483873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483873T>C , CM000678.2:g.70483873T>C	GRCh38
NC_000016.9:g.70517776T>C , CM000678.1:g.70517776T>C	GRCh37
NC_000016.8:g.69075277T>C	NCBI36
NG_027529.1:g.44682A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1883A>G	ENSP00000461912.2:n.*1883A>G
ENST00000703106.1:c.1852A>G	ENSP00000515173.1:n.1852A>G
ENST00000703107.1:c.*1736A>G	ENSP00000515174.1:n.*1736A>G
ENST00000703108.1:c.*255A>G	ENSP00000515175.1:n.*255A>G
ENST00000703109.1:c.1840A>G	ENSP00000515176.1:p.Lys614Glu
ENST00000703110.1:c.*1309A>G	ENSP00000515177.1:n.*1309A>G
ENST00000703111.1:n.1814A>G
ENST00000703112.1:n.2580A>G
ENST00000703113.1:c.*1220A>G	ENSP00000515178.1:n.*1220A>G
ENST00000703114.1:c.*456A>G	ENSP00000515179.1:n.*456A>G
ENST00000703115.1:c.920A>G	ENSP00000515180.1:n.920A>G
ENST00000323786.10:c.1807A>G MANE Select	ENSP00000315775.5:p.Lys603Glu
ENST00000564415.6:c.*1587A>G	ENSP00000456653.2:n.*1587A>G
ENST00000674443.1:c.1732A>G	ENSP00000501405.1:p.Lys578Glu
ENST00000323786.9:c.1807A>G	ENSP00000315775.5:p.Lys603Glu
ENST00000393612.8:c.1744A>G	ENSP00000377236.5:p.Lys582Glu
ENST00000482252.5:c.1954A>G	ENSP00000432802.1:n.1954A>G
ENST00000526700.5:n.983A>G
ENST00000530314.5:n.2486A>G
ENST00000564315.1:n.267A>G
ENST00000564415.5:c.*1587A>G	ENSP00000456653.1:n.*1587A>G
NM_001195139.1:c.1744A>G	NP_001182068.1:p.Lys582Glu
NM_015386.2:c.1807A>G	NP_056201.2:p.Lys603Glu
XM_011522981.1:c.1381A>G	XP_011521283.1:p.Lys461Glu
XR_933266.1:n.1753A>G
XR_933267.1:n.1753A>G
XM_011522981.3:c.1381A>G	XP_011521283.1:p.Lys461Glu
XM_024450224.1:c.826A>G	XP_024305992.1:p.Lys276Glu
XR_001751889.1:n.1690A>G
XR_933266.2:n.1753A>G
NM_015386.3:c.1807A>G MANE Select	NP_056201.2:p.Lys603Glu
NM_001195139.2:c.1732A>G	NP_001182068.2:p.Lys578Glu
NM_001365426.1:c.1381A>G	NP_001352355.1:p.Lys461Glu
NR_158212.1:n.1766A>G