Canonical Allele Identifier: CA396580755

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517839C>A (hg19) ; chr16:g.70483936C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483936C>A , CM000678.2:g.70483936C>A	GRCh38
NC_000016.9:g.70517839C>A , CM000678.1:g.70517839C>A	GRCh37
NC_000016.8:g.69075340C>A	NCBI36
NG_027529.1:g.44619G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1820G>T	ENSP00000461912.2:n.*1820G>T
ENST00000703106.1:c.1789G>T	ENSP00000515173.1:n.1789G>T
ENST00000703107.1:c.*1673G>T	ENSP00000515174.1:n.*1673G>T
ENST00000703108.1:c.*192G>T	ENSP00000515175.1:n.*192G>T
ENST00000703109.1:c.1777G>T	ENSP00000515176.1:p.Gly593Ter
ENST00000703110.1:c.*1246G>T	ENSP00000515177.1:n.*1246G>T
ENST00000703111.1:n.1751G>T
ENST00000703112.1:n.2517G>T
ENST00000703113.1:c.*1157G>T	ENSP00000515178.1:n.*1157G>T
ENST00000703114.1:c.*393G>T	ENSP00000515179.1:n.*393G>T
ENST00000703115.1:c.857G>T	ENSP00000515180.1:n.857G>T
ENST00000323786.10:c.1744G>T MANE Select	ENSP00000315775.5:p.Gly582Ter
ENST00000564415.6:c.*1524G>T	ENSP00000456653.2:n.*1524G>T
ENST00000674443.1:c.1669G>T	ENSP00000501405.1:p.Gly557Ter
ENST00000323786.9:c.1744G>T	ENSP00000315775.5:p.Gly582Ter
ENST00000393612.8:c.1681G>T	ENSP00000377236.5:p.Gly561Ter
ENST00000482252.5:c.1891G>T	ENSP00000432802.1:n.1891G>T
ENST00000526700.5:n.920G>T
ENST00000530314.5:n.2423G>T
ENST00000564315.1:n.204G>T
ENST00000564415.5:c.*1524G>T	ENSP00000456653.1:n.*1524G>T
NM_001195139.1:c.1681G>T	NP_001182068.1:p.Gly561Ter
NM_015386.2:c.1744G>T	NP_056201.2:p.Gly582Ter
XM_011522981.1:c.1318G>T	XP_011521283.1:p.Gly440Ter
XR_933266.1:n.1690G>T
XR_933267.1:n.1690G>T
XM_011522981.3:c.1318G>T	XP_011521283.1:p.Gly440Ter
XM_024450224.1:c.763G>T	XP_024305992.1:p.Gly255Ter
XR_001751889.1:n.1627G>T
XR_933266.2:n.1690G>T
NM_015386.3:c.1744G>T MANE Select	NP_056201.2:p.Gly582Ter
NM_001195139.2:c.1669G>T	NP_001182068.2:p.Gly557Ter
NM_001365426.1:c.1318G>T	NP_001352355.1:p.Gly440Ter
NR_158212.1:n.1703G>T