Canonical Allele Identifier: CA396580824

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517869C>G (hg19) ; chr16:g.70483966C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483966C>G , CM000678.2:g.70483966C>G	GRCh38
NC_000016.9:g.70517869C>G , CM000678.1:g.70517869C>G	GRCh37
NC_000016.8:g.69075370C>G	NCBI36
NG_027529.1:g.44589G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1790G>C	ENSP00000461912.2:n.*1790G>C
ENST00000703106.1:c.1759G>C	ENSP00000515173.1:n.1759G>C
ENST00000703107.1:c.*1643G>C	ENSP00000515174.1:n.*1643G>C
ENST00000703108.1:c.*162G>C	ENSP00000515175.1:n.*162G>C
ENST00000703109.1:c.1747G>C	ENSP00000515176.1:p.Asp583His
ENST00000703110.1:c.*1216G>C	ENSP00000515177.1:n.*1216G>C
ENST00000703111.1:n.1721G>C
ENST00000703112.1:n.2487G>C
ENST00000703113.1:c.*1127G>C	ENSP00000515178.1:n.*1127G>C
ENST00000703114.1:c.*363G>C	ENSP00000515179.1:n.*363G>C
ENST00000703115.1:c.827G>C	ENSP00000515180.1:n.827G>C
ENST00000323786.10:c.1714G>C MANE Select	ENSP00000315775.5:p.Asp572His
ENST00000564415.6:c.*1494G>C	ENSP00000456653.2:n.*1494G>C
ENST00000674443.1:c.1639G>C	ENSP00000501405.1:p.Asp547His
ENST00000323786.9:c.1714G>C	ENSP00000315775.5:p.Asp572His
ENST00000393612.8:c.1651G>C	ENSP00000377236.5:p.Asp551His
ENST00000482252.5:c.1861G>C	ENSP00000432802.1:n.1861G>C
ENST00000526700.5:n.890G>C
ENST00000530314.5:n.2393G>C
ENST00000564315.1:n.174G>C
ENST00000564415.5:c.*1494G>C	ENSP00000456653.1:n.*1494G>C
NM_001195139.1:c.1651G>C	NP_001182068.1:p.Asp551His
NM_015386.2:c.1714G>C	NP_056201.2:p.Asp572His
XM_011522981.1:c.1288G>C	XP_011521283.1:p.Asp430His
XR_933266.1:n.1660G>C
XR_933267.1:n.1660G>C
XM_011522981.3:c.1288G>C	XP_011521283.1:p.Asp430His
XM_024450224.1:c.733G>C	XP_024305992.1:p.Asp245His
XR_001751889.1:n.1597G>C
XR_933266.2:n.1660G>C
NM_015386.3:c.1714G>C MANE Select	NP_056201.2:p.Asp572His
NM_001195139.2:c.1639G>C	NP_001182068.2:p.Asp547His
NM_001365426.1:c.1288G>C	NP_001352355.1:p.Asp430His
NR_158212.1:n.1673G>C