Canonical Allele Identifier: CA496227783

Gene: COG4

Linked Data

• dbSNP Id: rs1597650792
• gnomAD v4: 16-70481407-G-A
• MyVariant Identifiers: chr16:g.70515310G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481407G>A , CM000678.2:g.70481407G>A	GRCh38
NC_000016.9:g.70515310G>A , CM000678.1:g.70515310G>A	GRCh37
NC_000016.8:g.69072811G>A	NCBI36
NG_027529.1:g.47148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2263C>T	ENSP00000461912.2:n.*2263C>T
ENST00000703106.1:c.2232C>T	ENSP00000515173.1:n.2232C>T
ENST00000703107.1:c.*2116C>T	ENSP00000515174.1:n.*2116C>T
ENST00000703108.1:c.*635C>T	ENSP00000515175.1:n.*635C>T
ENST00000703109.1:c.2220C>T	ENSP00000515176.1:p.Asp740=
ENST00000703110.1:c.*1689C>T	ENSP00000515177.1:n.*1689C>T
ENST00000703111.1:n.2470C>T
ENST00000703112.1:n.3131C>T
ENST00000703113.1:c.*1600C>T	ENSP00000515178.1:n.*1600C>T
ENST00000703114.1:c.*836C>T	ENSP00000515179.1:n.*836C>T
ENST00000703115.1:c.1300C>T	ENSP00000515180.1:n.1300C>T
ENST00000323786.10:c.2187C>T MANE Select	ENSP00000315775.5:p.Asp729=
ENST00000564415.6:c.*1967C>T	ENSP00000456653.2:n.*1967C>T
ENST00000674443.1:c.2112C>T	ENSP00000501405.1:p.Asp704=
ENST00000323786.9:c.2187C>T	ENSP00000315775.5:p.Asp729=
ENST00000393612.8:c.2124C>T	ENSP00000377236.5:p.Asp708=
ENST00000482252.5:c.2334C>T	ENSP00000432802.1:n.2334C>T
ENST00000526700.5:n.1363C>T
ENST00000530314.5:n.2866C>T
ENST00000564415.5:c.*1967C>T	ENSP00000456653.1:n.*1967C>T
ENST00000565715.1:c.249C>T	ENSP00000455693.1:p.Asp83=
NM_001195139.1:c.2124C>T	NP_001182068.1:p.Asp708=
NM_015386.2:c.2187C>T	NP_056201.2:p.Asp729=
XM_011522981.1:c.1761C>T	XP_011521283.1:p.Asp587=
XM_011522981.3:c.1761C>T	XP_011521283.1:p.Asp587=
XM_024450224.1:c.1206C>T	XP_024305992.1:p.Asp402=
XR_933266.2:n.2133C>T
NM_015386.3:c.2187C>T MANE Select	NP_056201.2:p.Asp729=
NM_001195139.2:c.2112C>T	NP_001182068.2:p.Asp704=
NM_001365426.1:c.1761C>T	NP_001352355.1:p.Asp587=
NR_158212.1:n.2146C>T