Canonical Allele Identifier: CA396580576

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517757T>G (hg19) ; chr16:g.70483854T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1902A>C	ENSP00000461912.2:n.*1902A>C
ENST00000703106.1:c.1871A>C	ENSP00000515173.1:n.1871A>C
ENST00000703107.1:c.*1755A>C	ENSP00000515174.1:n.*1755A>C
ENST00000703108.1:c.*274A>C	ENSP00000515175.1:n.*274A>C
ENST00000703109.1:c.1859A>C	ENSP00000515176.1:p.Gln620Pro
ENST00000703110.1:c.*1328A>C	ENSP00000515177.1:n.*1328A>C
ENST00000703111.1:n.1833A>C
ENST00000703112.1:n.2599A>C
ENST00000703113.1:c.*1239A>C	ENSP00000515178.1:n.*1239A>C
ENST00000703114.1:c.*475A>C	ENSP00000515179.1:n.*475A>C
ENST00000703115.1:c.939A>C	ENSP00000515180.1:n.939A>C
ENST00000323786.10:c.1826A>C MANE Select	ENSP00000315775.5:p.Gln609Pro
ENST00000564415.6:c.*1606A>C	ENSP00000456653.2:n.*1606A>C
ENST00000674443.1:c.1751A>C	ENSP00000501405.1:p.Gln584Pro
ENST00000323786.9:c.1826A>C	ENSP00000315775.5:p.Gln609Pro
ENST00000393612.8:c.1763A>C	ENSP00000377236.5:p.Gln588Pro
ENST00000482252.5:c.1973A>C	ENSP00000432802.1:n.1973A>C
ENST00000526700.5:n.1002A>C
ENST00000530314.5:n.2505A>C
ENST00000564315.1:n.286A>C
ENST00000564415.5:c.*1606A>C	ENSP00000456653.1:n.*1606A>C
NM_001195139.1:c.1763A>C	NP_001182068.1:p.Gln588Pro
NM_015386.2:c.1826A>C	NP_056201.2:p.Gln609Pro
XM_011522981.1:c.1400A>C	XP_011521283.1:p.Gln467Pro
XR_933266.1:n.1772A>C
XR_933267.1:n.1772A>C
XM_011522981.3:c.1400A>C	XP_011521283.1:p.Gln467Pro
XM_024450224.1:c.845A>C	XP_024305992.1:p.Gln282Pro
XR_001751889.1:n.1709A>C
XR_933266.2:n.1772A>C
NM_015386.3:c.1826A>C MANE Select	NP_056201.2:p.Gln609Pro
NM_001195139.2:c.1751A>C	NP_001182068.2:p.Gln584Pro
NM_001365426.1:c.1400A>C	NP_001352355.1:p.Gln467Pro
NR_158212.1:n.1785A>C