Canonical Allele Identifier: CA396580619

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517776T>G (hg19) ; chr16:g.70483873T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1883A>C	ENSP00000461912.2:n.*1883A>C
ENST00000703106.1:c.1852A>C	ENSP00000515173.1:n.1852A>C
ENST00000703107.1:c.*1736A>C	ENSP00000515174.1:n.*1736A>C
ENST00000703108.1:c.*255A>C	ENSP00000515175.1:n.*255A>C
ENST00000703109.1:c.1840A>C	ENSP00000515176.1:p.Lys614Gln
ENST00000703110.1:c.*1309A>C	ENSP00000515177.1:n.*1309A>C
ENST00000703111.1:n.1814A>C
ENST00000703112.1:n.2580A>C
ENST00000703113.1:c.*1220A>C	ENSP00000515178.1:n.*1220A>C
ENST00000703114.1:c.*456A>C	ENSP00000515179.1:n.*456A>C
ENST00000703115.1:c.920A>C	ENSP00000515180.1:n.920A>C
ENST00000323786.10:c.1807A>C MANE Select	ENSP00000315775.5:p.Lys603Gln
ENST00000564415.6:c.*1587A>C	ENSP00000456653.2:n.*1587A>C
ENST00000674443.1:c.1732A>C	ENSP00000501405.1:p.Lys578Gln
ENST00000323786.9:c.1807A>C	ENSP00000315775.5:p.Lys603Gln
ENST00000393612.8:c.1744A>C	ENSP00000377236.5:p.Lys582Gln
ENST00000482252.5:c.1954A>C	ENSP00000432802.1:n.1954A>C
ENST00000526700.5:n.983A>C
ENST00000530314.5:n.2486A>C
ENST00000564315.1:n.267A>C
ENST00000564415.5:c.*1587A>C	ENSP00000456653.1:n.*1587A>C
NM_001195139.1:c.1744A>C	NP_001182068.1:p.Lys582Gln
NM_015386.2:c.1807A>C	NP_056201.2:p.Lys603Gln
XM_011522981.1:c.1381A>C	XP_011521283.1:p.Lys461Gln
XR_933266.1:n.1753A>C
XR_933267.1:n.1753A>C
XM_011522981.3:c.1381A>C	XP_011521283.1:p.Lys461Gln
XM_024450224.1:c.826A>C	XP_024305992.1:p.Lys276Gln
XR_001751889.1:n.1690A>C
XR_933266.2:n.1753A>C
NM_015386.3:c.1807A>C MANE Select	NP_056201.2:p.Lys603Gln
NM_001195139.2:c.1732A>C	NP_001182068.2:p.Lys578Gln
NM_001365426.1:c.1381A>C	NP_001352355.1:p.Lys461Gln
NR_158212.1:n.1766A>C