Canonical Allele Identifier: CA396580772

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517847T>A (hg19) ; chr16:g.70483944T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483944T>A , CM000678.2:g.70483944T>A	GRCh38
NC_000016.9:g.70517847T>A , CM000678.1:g.70517847T>A	GRCh37
NC_000016.8:g.69075348T>A	NCBI36
NG_027529.1:g.44611A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1812A>T	ENSP00000461912.2:n.*1812A>T
ENST00000703106.1:c.1781A>T	ENSP00000515173.1:n.1781A>T
ENST00000703107.1:c.*1665A>T	ENSP00000515174.1:n.*1665A>T
ENST00000703108.1:c.*184A>T	ENSP00000515175.1:n.*184A>T
ENST00000703109.1:c.1769A>T	ENSP00000515176.1:p.Gln590Leu
ENST00000703110.1:c.*1238A>T	ENSP00000515177.1:n.*1238A>T
ENST00000703111.1:n.1743A>T
ENST00000703112.1:n.2509A>T
ENST00000703113.1:c.*1149A>T	ENSP00000515178.1:n.*1149A>T
ENST00000703114.1:c.*385A>T	ENSP00000515179.1:n.*385A>T
ENST00000703115.1:c.849A>T	ENSP00000515180.1:n.849A>T
ENST00000323786.10:c.1736A>T MANE Select	ENSP00000315775.5:p.Gln579Leu
ENST00000564415.6:c.*1516A>T	ENSP00000456653.2:n.*1516A>T
ENST00000674443.1:c.1661A>T	ENSP00000501405.1:p.Gln554Leu
ENST00000323786.9:c.1736A>T	ENSP00000315775.5:p.Gln579Leu
ENST00000393612.8:c.1673A>T	ENSP00000377236.5:p.Gln558Leu
ENST00000482252.5:c.1883A>T	ENSP00000432802.1:n.1883A>T
ENST00000526700.5:n.912A>T
ENST00000530314.5:n.2415A>T
ENST00000564315.1:n.196A>T
ENST00000564415.5:c.*1516A>T	ENSP00000456653.1:n.*1516A>T
NM_001195139.1:c.1673A>T	NP_001182068.1:p.Gln558Leu
NM_015386.2:c.1736A>T	NP_056201.2:p.Gln579Leu
XM_011522981.1:c.1310A>T	XP_011521283.1:p.Gln437Leu
XR_933266.1:n.1682A>T
XR_933267.1:n.1682A>T
XM_011522981.3:c.1310A>T	XP_011521283.1:p.Gln437Leu
XM_024450224.1:c.755A>T	XP_024305992.1:p.Gln252Leu
XR_001751889.1:n.1619A>T
XR_933266.2:n.1682A>T
NM_015386.3:c.1736A>T MANE Select	NP_056201.2:p.Gln579Leu
NM_001195139.2:c.1661A>T	NP_001182068.2:p.Gln554Leu
NM_001365426.1:c.1310A>T	NP_001352355.1:p.Gln437Leu
NR_158212.1:n.1695A>T