Canonical Allele Identifier: CA396580723

Gene: COG4

Linked Data

• dbSNP Id: rs2049069520
• MyVariant Identifiers: chr16:g.70517823T>C (hg19) ; chr16:g.70483920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483920T>C , CM000678.2:g.70483920T>C	GRCh38
NC_000016.9:g.70517823T>C , CM000678.1:g.70517823T>C	GRCh37
NC_000016.8:g.69075324T>C	NCBI36
NG_027529.1:g.44635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1836A>G	ENSP00000461912.2:n.*1836A>G
ENST00000703106.1:c.1805A>G	ENSP00000515173.1:n.1805A>G
ENST00000703107.1:c.*1689A>G	ENSP00000515174.1:n.*1689A>G
ENST00000703108.1:c.*208A>G	ENSP00000515175.1:n.*208A>G
ENST00000703109.1:c.1793A>G	ENSP00000515176.1:p.Gln598Arg
ENST00000703110.1:c.*1262A>G	ENSP00000515177.1:n.*1262A>G
ENST00000703111.1:n.1767A>G
ENST00000703112.1:n.2533A>G
ENST00000703113.1:c.*1173A>G	ENSP00000515178.1:n.*1173A>G
ENST00000703114.1:c.*409A>G	ENSP00000515179.1:n.*409A>G
ENST00000703115.1:c.873A>G	ENSP00000515180.1:n.873A>G
ENST00000323786.10:c.1760A>G MANE Select	ENSP00000315775.5:p.Gln587Arg
ENST00000564415.6:c.*1540A>G	ENSP00000456653.2:n.*1540A>G
ENST00000674443.1:c.1685A>G	ENSP00000501405.1:p.Gln562Arg
ENST00000323786.9:c.1760A>G	ENSP00000315775.5:p.Gln587Arg
ENST00000393612.8:c.1697A>G	ENSP00000377236.5:p.Gln566Arg
ENST00000482252.5:c.1907A>G	ENSP00000432802.1:n.1907A>G
ENST00000526700.5:n.936A>G
ENST00000530314.5:n.2439A>G
ENST00000564315.1:n.220A>G
ENST00000564415.5:c.*1540A>G	ENSP00000456653.1:n.*1540A>G
NM_001195139.1:c.1697A>G	NP_001182068.1:p.Gln566Arg
NM_015386.2:c.1760A>G	NP_056201.2:p.Gln587Arg
XM_011522981.1:c.1334A>G	XP_011521283.1:p.Gln445Arg
XR_933266.1:n.1706A>G
XR_933267.1:n.1706A>G
XM_011522981.3:c.1334A>G	XP_011521283.1:p.Gln445Arg
XM_024450224.1:c.779A>G	XP_024305992.1:p.Gln260Arg
XR_001751889.1:n.1643A>G
XR_933266.2:n.1706A>G
NM_015386.3:c.1760A>G MANE Select	NP_056201.2:p.Gln587Arg
NM_001195139.2:c.1685A>G	NP_001182068.2:p.Gln562Arg
NM_001365426.1:c.1334A>G	NP_001352355.1:p.Gln445Arg
NR_158212.1:n.1719A>G