Canonical Allele Identifier: CA396580575

Gene: COG4

Linked Data

• gnomAD v4: 16-70483854-T-C
• MyVariant Identifiers: chr16:g.70517757T>C (hg19) ; chr16:g.70483854T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483854T>C , CM000678.2:g.70483854T>C	GRCh38
NC_000016.9:g.70517757T>C , CM000678.1:g.70517757T>C	GRCh37
NC_000016.8:g.69075258T>C	NCBI36
NG_027529.1:g.44701A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1902A>G	ENSP00000461912.2:n.*1902A>G
ENST00000703106.1:c.1871A>G	ENSP00000515173.1:n.1871A>G
ENST00000703107.1:c.*1755A>G	ENSP00000515174.1:n.*1755A>G
ENST00000703108.1:c.*274A>G	ENSP00000515175.1:n.*274A>G
ENST00000703109.1:c.1859A>G	ENSP00000515176.1:p.Gln620Arg
ENST00000703110.1:c.*1328A>G	ENSP00000515177.1:n.*1328A>G
ENST00000703111.1:n.1833A>G
ENST00000703112.1:n.2599A>G
ENST00000703113.1:c.*1239A>G	ENSP00000515178.1:n.*1239A>G
ENST00000703114.1:c.*475A>G	ENSP00000515179.1:n.*475A>G
ENST00000703115.1:c.939A>G	ENSP00000515180.1:n.939A>G
ENST00000323786.10:c.1826A>G MANE Select	ENSP00000315775.5:p.Gln609Arg
ENST00000564415.6:c.*1606A>G	ENSP00000456653.2:n.*1606A>G
ENST00000674443.1:c.1751A>G	ENSP00000501405.1:p.Gln584Arg
ENST00000323786.9:c.1826A>G	ENSP00000315775.5:p.Gln609Arg
ENST00000393612.8:c.1763A>G	ENSP00000377236.5:p.Gln588Arg
ENST00000482252.5:c.1973A>G	ENSP00000432802.1:n.1973A>G
ENST00000526700.5:n.1002A>G
ENST00000530314.5:n.2505A>G
ENST00000564315.1:n.286A>G
ENST00000564415.5:c.*1606A>G	ENSP00000456653.1:n.*1606A>G
NM_001195139.1:c.1763A>G	NP_001182068.1:p.Gln588Arg
NM_015386.2:c.1826A>G	NP_056201.2:p.Gln609Arg
XM_011522981.1:c.1400A>G	XP_011521283.1:p.Gln467Arg
XR_933266.1:n.1772A>G
XR_933267.1:n.1772A>G
XM_011522981.3:c.1400A>G	XP_011521283.1:p.Gln467Arg
XM_024450224.1:c.845A>G	XP_024305992.1:p.Gln282Arg
XR_001751889.1:n.1709A>G
XR_933266.2:n.1772A>G
NM_015386.3:c.1826A>G MANE Select	NP_056201.2:p.Gln609Arg
NM_001195139.2:c.1751A>G	NP_001182068.2:p.Gln584Arg
NM_001365426.1:c.1400A>G	NP_001352355.1:p.Gln467Arg
NR_158212.1:n.1785A>G