Canonical Allele Identifier: CA396580661

Gene: COG4

Linked Data

• gnomAD v4: 16-70483894-C-A
• MyVariant Identifiers: chr16:g.70517797C>A (hg19) ; chr16:g.70483894C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483894C>A , CM000678.2:g.70483894C>A	GRCh38
NC_000016.9:g.70517797C>A , CM000678.1:g.70517797C>A	GRCh37
NC_000016.8:g.69075298C>A	NCBI36
NG_027529.1:g.44661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1862G>T	ENSP00000461912.2:n.*1862G>T
ENST00000703106.1:c.1831G>T	ENSP00000515173.1:n.1831G>T
ENST00000703107.1:c.*1715G>T	ENSP00000515174.1:n.*1715G>T
ENST00000703108.1:c.*234G>T	ENSP00000515175.1:n.*234G>T
ENST00000703109.1:c.1819G>T	ENSP00000515176.1:p.Asp607Tyr
ENST00000703110.1:c.*1288G>T	ENSP00000515177.1:n.*1288G>T
ENST00000703111.1:n.1793G>T
ENST00000703112.1:n.2559G>T
ENST00000703113.1:c.*1199G>T	ENSP00000515178.1:n.*1199G>T
ENST00000703114.1:c.*435G>T	ENSP00000515179.1:n.*435G>T
ENST00000703115.1:c.899G>T	ENSP00000515180.1:n.899G>T
ENST00000323786.10:c.1786G>T MANE Select	ENSP00000315775.5:p.Asp596Tyr
ENST00000564415.6:c.*1566G>T	ENSP00000456653.2:n.*1566G>T
ENST00000674443.1:c.1711G>T	ENSP00000501405.1:p.Asp571Tyr
ENST00000323786.9:c.1786G>T	ENSP00000315775.5:p.Asp596Tyr
ENST00000393612.8:c.1723G>T	ENSP00000377236.5:p.Asp575Tyr
ENST00000482252.5:c.1933G>T	ENSP00000432802.1:n.1933G>T
ENST00000526700.5:n.962G>T
ENST00000530314.5:n.2465G>T
ENST00000564315.1:n.246G>T
ENST00000564415.5:c.*1566G>T	ENSP00000456653.1:n.*1566G>T
NM_001195139.1:c.1723G>T	NP_001182068.1:p.Asp575Tyr
NM_015386.2:c.1786G>T	NP_056201.2:p.Asp596Tyr
XM_011522981.1:c.1360G>T	XP_011521283.1:p.Asp454Tyr
XR_933266.1:n.1732G>T
XR_933267.1:n.1732G>T
XM_011522981.3:c.1360G>T	XP_011521283.1:p.Asp454Tyr
XM_024450224.1:c.805G>T	XP_024305992.1:p.Asp269Tyr
XR_001751889.1:n.1669G>T
XR_933266.2:n.1732G>T
NM_015386.3:c.1786G>T MANE Select	NP_056201.2:p.Asp596Tyr
NM_001195139.2:c.1711G>T	NP_001182068.2:p.Asp571Tyr
NM_001365426.1:c.1360G>T	NP_001352355.1:p.Asp454Tyr
NR_158212.1:n.1745G>T