Canonical Allele Identifier: CA396580730

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517827C>A (hg19) ; chr16:g.70483924C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483924C>A , CM000678.2:g.70483924C>A	GRCh38
NC_000016.9:g.70517827C>A , CM000678.1:g.70517827C>A	GRCh37
NC_000016.8:g.69075328C>A	NCBI36
NG_027529.1:g.44631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1832G>T	ENSP00000461912.2:n.*1832G>T
ENST00000703106.1:c.1801G>T	ENSP00000515173.1:n.1801G>T
ENST00000703107.1:c.*1685G>T	ENSP00000515174.1:n.*1685G>T
ENST00000703108.1:c.*204G>T	ENSP00000515175.1:n.*204G>T
ENST00000703109.1:c.1789G>T	ENSP00000515176.1:p.Ala597Ser
ENST00000703110.1:c.*1258G>T	ENSP00000515177.1:n.*1258G>T
ENST00000703111.1:n.1763G>T
ENST00000703112.1:n.2529G>T
ENST00000703113.1:c.*1169G>T	ENSP00000515178.1:n.*1169G>T
ENST00000703114.1:c.*405G>T	ENSP00000515179.1:n.*405G>T
ENST00000703115.1:c.869G>T	ENSP00000515180.1:n.869G>T
ENST00000323786.10:c.1756G>T MANE Select	ENSP00000315775.5:p.Ala586Ser
ENST00000564415.6:c.*1536G>T	ENSP00000456653.2:n.*1536G>T
ENST00000674443.1:c.1681G>T	ENSP00000501405.1:p.Ala561Ser
ENST00000323786.9:c.1756G>T	ENSP00000315775.5:p.Ala586Ser
ENST00000393612.8:c.1693G>T	ENSP00000377236.5:p.Ala565Ser
ENST00000482252.5:c.1903G>T	ENSP00000432802.1:n.1903G>T
ENST00000526700.5:n.932G>T
ENST00000530314.5:n.2435G>T
ENST00000564315.1:n.216G>T
ENST00000564415.5:c.*1536G>T	ENSP00000456653.1:n.*1536G>T
NM_001195139.1:c.1693G>T	NP_001182068.1:p.Ala565Ser
NM_015386.2:c.1756G>T	NP_056201.2:p.Ala586Ser
XM_011522981.1:c.1330G>T	XP_011521283.1:p.Ala444Ser
XR_933266.1:n.1702G>T
XR_933267.1:n.1702G>T
XM_011522981.3:c.1330G>T	XP_011521283.1:p.Ala444Ser
XM_024450224.1:c.775G>T	XP_024305992.1:p.Ala259Ser
XR_001751889.1:n.1639G>T
XR_933266.2:n.1702G>T
NM_015386.3:c.1756G>T MANE Select	NP_056201.2:p.Ala586Ser
NM_001195139.2:c.1681G>T	NP_001182068.2:p.Ala561Ser
NM_001365426.1:c.1330G>T	NP_001352355.1:p.Ala444Ser
NR_158212.1:n.1715G>T