Canonical Allele Identifier: CA396580597

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517767C>A (hg19) ; chr16:g.70483864C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483864C>A , CM000678.2:g.70483864C>A	GRCh38
NC_000016.9:g.70517767C>A , CM000678.1:g.70517767C>A	GRCh37
NC_000016.8:g.69075268C>A	NCBI36
NG_027529.1:g.44691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1892G>T	ENSP00000461912.2:n.*1892G>T
ENST00000703106.1:c.1861G>T	ENSP00000515173.1:n.1861G>T
ENST00000703107.1:c.*1745G>T	ENSP00000515174.1:n.*1745G>T
ENST00000703108.1:c.*264G>T	ENSP00000515175.1:n.*264G>T
ENST00000703109.1:c.1849G>T	ENSP00000515176.1:p.Asp617Tyr
ENST00000703110.1:c.*1318G>T	ENSP00000515177.1:n.*1318G>T
ENST00000703111.1:n.1823G>T
ENST00000703112.1:n.2589G>T
ENST00000703113.1:c.*1229G>T	ENSP00000515178.1:n.*1229G>T
ENST00000703114.1:c.*465G>T	ENSP00000515179.1:n.*465G>T
ENST00000703115.1:c.929G>T	ENSP00000515180.1:n.929G>T
ENST00000323786.10:c.1816G>T MANE Select	ENSP00000315775.5:p.Asp606Tyr
ENST00000564415.6:c.*1596G>T	ENSP00000456653.2:n.*1596G>T
ENST00000674443.1:c.1741G>T	ENSP00000501405.1:p.Asp581Tyr
ENST00000323786.9:c.1816G>T	ENSP00000315775.5:p.Asp606Tyr
ENST00000393612.8:c.1753G>T	ENSP00000377236.5:p.Asp585Tyr
ENST00000482252.5:c.1963G>T	ENSP00000432802.1:n.1963G>T
ENST00000526700.5:n.992G>T
ENST00000530314.5:n.2495G>T
ENST00000564315.1:n.276G>T
ENST00000564415.5:c.*1596G>T	ENSP00000456653.1:n.*1596G>T
NM_001195139.1:c.1753G>T	NP_001182068.1:p.Asp585Tyr
NM_015386.2:c.1816G>T	NP_056201.2:p.Asp606Tyr
XM_011522981.1:c.1390G>T	XP_011521283.1:p.Asp464Tyr
XR_933266.1:n.1762G>T
XR_933267.1:n.1762G>T
XM_011522981.3:c.1390G>T	XP_011521283.1:p.Asp464Tyr
XM_024450224.1:c.835G>T	XP_024305992.1:p.Asp279Tyr
XR_001751889.1:n.1699G>T
XR_933266.2:n.1762G>T
NM_015386.3:c.1816G>T MANE Select	NP_056201.2:p.Asp606Tyr
NM_001195139.2:c.1741G>T	NP_001182068.2:p.Asp581Tyr
NM_001365426.1:c.1390G>T	NP_001352355.1:p.Asp464Tyr
NR_158212.1:n.1775G>T