Canonical Allele Identifier: CA396580728

Gene: COG4

Linked Data

• gnomAD v4: 16-70483923-G-T
• MyVariant Identifiers: chr16:g.70517826G>T (hg19) ; chr16:g.70483923G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483923G>T , CM000678.2:g.70483923G>T	GRCh38
NC_000016.9:g.70517826G>T , CM000678.1:g.70517826G>T	GRCh37
NC_000016.8:g.69075327G>T	NCBI36
NG_027529.1:g.44632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1833C>A	ENSP00000461912.2:n.*1833C>A
ENST00000703106.1:c.1802C>A	ENSP00000515173.1:n.1802C>A
ENST00000703107.1:c.*1686C>A	ENSP00000515174.1:n.*1686C>A
ENST00000703108.1:c.*205C>A	ENSP00000515175.1:n.*205C>A
ENST00000703109.1:c.1790C>A	ENSP00000515176.1:p.Ala597Asp
ENST00000703110.1:c.*1259C>A	ENSP00000515177.1:n.*1259C>A
ENST00000703111.1:n.1764C>A
ENST00000703112.1:n.2530C>A
ENST00000703113.1:c.*1170C>A	ENSP00000515178.1:n.*1170C>A
ENST00000703114.1:c.*406C>A	ENSP00000515179.1:n.*406C>A
ENST00000703115.1:c.870C>A	ENSP00000515180.1:n.870C>A
ENST00000323786.10:c.1757C>A MANE Select	ENSP00000315775.5:p.Ala586Asp
ENST00000564415.6:c.*1537C>A	ENSP00000456653.2:n.*1537C>A
ENST00000674443.1:c.1682C>A	ENSP00000501405.1:p.Ala561Asp
ENST00000323786.9:c.1757C>A	ENSP00000315775.5:p.Ala586Asp
ENST00000393612.8:c.1694C>A	ENSP00000377236.5:p.Ala565Asp
ENST00000482252.5:c.1904C>A	ENSP00000432802.1:n.1904C>A
ENST00000526700.5:n.933C>A
ENST00000530314.5:n.2436C>A
ENST00000564315.1:n.217C>A
ENST00000564415.5:c.*1537C>A	ENSP00000456653.1:n.*1537C>A
NM_001195139.1:c.1694C>A	NP_001182068.1:p.Ala565Asp
NM_015386.2:c.1757C>A	NP_056201.2:p.Ala586Asp
XM_011522981.1:c.1331C>A	XP_011521283.1:p.Ala444Asp
XR_933266.1:n.1703C>A
XR_933267.1:n.1703C>A
XM_011522981.3:c.1331C>A	XP_011521283.1:p.Ala444Asp
XM_024450224.1:c.776C>A	XP_024305992.1:p.Ala259Asp
XR_001751889.1:n.1640C>A
XR_933266.2:n.1703C>A
NM_015386.3:c.1757C>A MANE Select	NP_056201.2:p.Ala586Asp
NM_001195139.2:c.1682C>A	NP_001182068.2:p.Ala561Asp
NM_001365426.1:c.1331C>A	NP_001352355.1:p.Ala444Asp
NR_158212.1:n.1716C>A