Canonical Allele Identifier: CA396580588

Gene: COG4

Linked Data

• dbSNP Id: rs2151739630
• gnomAD v3: 16-70483860-A-T
• gnomAD v4: 16-70483860-A-T
• MyVariant Identifiers: chr16:g.70517763A>T (hg19) ; chr16:g.70483860A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483860A>T , CM000678.2:g.70483860A>T	GRCh38
NC_000016.9:g.70517763A>T , CM000678.1:g.70517763A>T	GRCh37
NC_000016.8:g.69075264A>T	NCBI36
NG_027529.1:g.44695T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1896T>A	ENSP00000461912.2:n.*1896T>A
ENST00000703106.1:c.1865T>A	ENSP00000515173.1:n.1865T>A
ENST00000703107.1:c.*1749T>A	ENSP00000515174.1:n.*1749T>A
ENST00000703108.1:c.*268T>A	ENSP00000515175.1:n.*268T>A
ENST00000703109.1:c.1853T>A	ENSP00000515176.1:p.Leu618His
ENST00000703110.1:c.*1322T>A	ENSP00000515177.1:n.*1322T>A
ENST00000703111.1:n.1827T>A
ENST00000703112.1:n.2593T>A
ENST00000703113.1:c.*1233T>A	ENSP00000515178.1:n.*1233T>A
ENST00000703114.1:c.*469T>A	ENSP00000515179.1:n.*469T>A
ENST00000703115.1:c.933T>A	ENSP00000515180.1:n.933T>A
ENST00000323786.10:c.1820T>A MANE Select	ENSP00000315775.5:p.Leu607His
ENST00000564415.6:c.*1600T>A	ENSP00000456653.2:n.*1600T>A
ENST00000674443.1:c.1745T>A	ENSP00000501405.1:p.Leu582His
ENST00000323786.9:c.1820T>A	ENSP00000315775.5:p.Leu607His
ENST00000393612.8:c.1757T>A	ENSP00000377236.5:p.Leu586His
ENST00000482252.5:c.1967T>A	ENSP00000432802.1:n.1967T>A
ENST00000526700.5:n.996T>A
ENST00000530314.5:n.2499T>A
ENST00000564315.1:n.280T>A
ENST00000564415.5:c.*1600T>A	ENSP00000456653.1:n.*1600T>A
NM_001195139.1:c.1757T>A	NP_001182068.1:p.Leu586His
NM_015386.2:c.1820T>A	NP_056201.2:p.Leu607His
XM_011522981.1:c.1394T>A	XP_011521283.1:p.Leu465His
XR_933266.1:n.1766T>A
XR_933267.1:n.1766T>A
XM_011522981.3:c.1394T>A	XP_011521283.1:p.Leu465His
XM_024450224.1:c.839T>A	XP_024305992.1:p.Leu280His
XR_001751889.1:n.1703T>A
XR_933266.2:n.1766T>A
NM_015386.3:c.1820T>A MANE Select	NP_056201.2:p.Leu607His
NM_001195139.2:c.1745T>A	NP_001182068.2:p.Leu582His
NM_001365426.1:c.1394T>A	NP_001352355.1:p.Leu465His
NR_158212.1:n.1779T>A