Canonical Allele Identifier: CA396580617

Gene: COG4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1883A>T	ENSP00000461912.2:n.*1883A>T
ENST00000703106.1:c.1852A>T	ENSP00000515173.1:n.1852A>T
ENST00000703107.1:c.*1736A>T	ENSP00000515174.1:n.*1736A>T
ENST00000703108.1:c.*255A>T	ENSP00000515175.1:n.*255A>T
ENST00000703109.1:c.1840A>T	ENSP00000515176.1:p.Lys614Ter
ENST00000703110.1:c.*1309A>T	ENSP00000515177.1:n.*1309A>T
ENST00000703111.1:n.1814A>T
ENST00000703112.1:n.2580A>T
ENST00000703113.1:c.*1220A>T	ENSP00000515178.1:n.*1220A>T
ENST00000703114.1:c.*456A>T	ENSP00000515179.1:n.*456A>T
ENST00000703115.1:c.920A>T	ENSP00000515180.1:n.920A>T
ENST00000323786.10:c.1807A>T MANE Select	ENSP00000315775.5:p.Lys603Ter
ENST00000564415.6:c.*1587A>T	ENSP00000456653.2:n.*1587A>T
ENST00000674443.1:c.1732A>T	ENSP00000501405.1:p.Lys578Ter
ENST00000323786.9:c.1807A>T	ENSP00000315775.5:p.Lys603Ter
ENST00000393612.8:c.1744A>T	ENSP00000377236.5:p.Lys582Ter
ENST00000482252.5:c.1954A>T	ENSP00000432802.1:n.1954A>T
ENST00000526700.5:n.983A>T
ENST00000530314.5:n.2486A>T
ENST00000564315.1:n.267A>T
ENST00000564415.5:c.*1587A>T	ENSP00000456653.1:n.*1587A>T
NM_001195139.1:c.1744A>T	NP_001182068.1:p.Lys582Ter
NM_015386.2:c.1807A>T	NP_056201.2:p.Lys603Ter
XM_011522981.1:c.1381A>T	XP_011521283.1:p.Lys461Ter
XR_933266.1:n.1753A>T
XR_933267.1:n.1753A>T
XM_011522981.3:c.1381A>T	XP_011521283.1:p.Lys461Ter
XM_024450224.1:c.826A>T	XP_024305992.1:p.Lys276Ter
XR_001751889.1:n.1690A>T
XR_933266.2:n.1753A>T
NM_015386.3:c.1807A>T MANE Select	NP_056201.2:p.Lys603Ter
NM_001195139.2:c.1732A>T	NP_001182068.2:p.Lys578Ter
NM_001365426.1:c.1381A>T	NP_001352355.1:p.Lys461Ter
NR_158212.1:n.1766A>T