Canonical Allele Identifier: CA496228689

Gene: COG4

Linked Data

• gnomAD v4: 16-70483891-A-G
• MyVariant Identifiers: chr16:g.70517794A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483891A>G , CM000678.2:g.70483891A>G	GRCh38
NC_000016.9:g.70517794A>G , CM000678.1:g.70517794A>G	GRCh37
NC_000016.8:g.69075295A>G	NCBI36
NG_027529.1:g.44664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1865T>C	ENSP00000461912.2:n.*1865T>C
ENST00000703106.1:c.1834T>C	ENSP00000515173.1:n.1834T>C
ENST00000703107.1:c.*1718T>C	ENSP00000515174.1:n.*1718T>C
ENST00000703108.1:c.*237T>C	ENSP00000515175.1:n.*237T>C
ENST00000703109.1:c.1822T>C	ENSP00000515176.1:p.Leu608=
ENST00000703110.1:c.*1291T>C	ENSP00000515177.1:n.*1291T>C
ENST00000703111.1:n.1796T>C
ENST00000703112.1:n.2562T>C
ENST00000703113.1:c.*1202T>C	ENSP00000515178.1:n.*1202T>C
ENST00000703114.1:c.*438T>C	ENSP00000515179.1:n.*438T>C
ENST00000703115.1:c.902T>C	ENSP00000515180.1:n.902T>C
ENST00000323786.10:c.1789T>C MANE Select	ENSP00000315775.5:p.Leu597=
ENST00000564415.6:c.*1569T>C	ENSP00000456653.2:n.*1569T>C
ENST00000674443.1:c.1714T>C	ENSP00000501405.1:p.Leu572=
ENST00000323786.9:c.1789T>C	ENSP00000315775.5:p.Leu597=
ENST00000393612.8:c.1726T>C	ENSP00000377236.5:p.Leu576=
ENST00000482252.5:c.1936T>C	ENSP00000432802.1:n.1936T>C
ENST00000526700.5:n.965T>C
ENST00000530314.5:n.2468T>C
ENST00000564315.1:n.249T>C
ENST00000564415.5:c.*1569T>C	ENSP00000456653.1:n.*1569T>C
NM_001195139.1:c.1726T>C	NP_001182068.1:p.Leu576=
NM_015386.2:c.1789T>C	NP_056201.2:p.Leu597=
XM_011522981.1:c.1363T>C	XP_011521283.1:p.Leu455=
XR_933266.1:n.1735T>C
XR_933267.1:n.1735T>C
XM_011522981.3:c.1363T>C	XP_011521283.1:p.Leu455=
XM_024450224.1:c.808T>C	XP_024305992.1:p.Leu270=
XR_001751889.1:n.1672T>C
XR_933266.2:n.1735T>C
NM_015386.3:c.1789T>C MANE Select	NP_056201.2:p.Leu597=
NM_001195139.2:c.1714T>C	NP_001182068.2:p.Leu572=
NM_001365426.1:c.1363T>C	NP_001352355.1:p.Leu455=
NR_158212.1:n.1748T>C