Canonical Allele Identifier: CA396580817

Gene: COG4

Linked Data

• gnomAD v4: 16-70483963-A-G
• MyVariant Identifiers: chr16:g.70517866A>G (hg19) ; chr16:g.70483963A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483963A>G , CM000678.2:g.70483963A>G	GRCh38
NC_000016.9:g.70517866A>G , CM000678.1:g.70517866A>G	GRCh37
NC_000016.8:g.69075367A>G	NCBI36
NG_027529.1:g.44592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1793T>C	ENSP00000461912.2:n.*1793T>C
ENST00000703106.1:c.1762T>C	ENSP00000515173.1:n.1762T>C
ENST00000703107.1:c.*1646T>C	ENSP00000515174.1:n.*1646T>C
ENST00000703108.1:c.*165T>C	ENSP00000515175.1:n.*165T>C
ENST00000703109.1:c.1750T>C	ENSP00000515176.1:p.Cys584Arg
ENST00000703110.1:c.*1219T>C	ENSP00000515177.1:n.*1219T>C
ENST00000703111.1:n.1724T>C
ENST00000703112.1:n.2490T>C
ENST00000703113.1:c.*1130T>C	ENSP00000515178.1:n.*1130T>C
ENST00000703114.1:c.*366T>C	ENSP00000515179.1:n.*366T>C
ENST00000703115.1:c.830T>C	ENSP00000515180.1:n.830T>C
ENST00000323786.10:c.1717T>C MANE Select	ENSP00000315775.5:p.Cys573Arg
ENST00000564415.6:c.*1497T>C	ENSP00000456653.2:n.*1497T>C
ENST00000674443.1:c.1642T>C	ENSP00000501405.1:p.Cys548Arg
ENST00000323786.9:c.1717T>C	ENSP00000315775.5:p.Cys573Arg
ENST00000393612.8:c.1654T>C	ENSP00000377236.5:p.Cys552Arg
ENST00000482252.5:c.1864T>C	ENSP00000432802.1:n.1864T>C
ENST00000526700.5:n.893T>C
ENST00000530314.5:n.2396T>C
ENST00000564315.1:n.177T>C
ENST00000564415.5:c.*1497T>C	ENSP00000456653.1:n.*1497T>C
NM_001195139.1:c.1654T>C	NP_001182068.1:p.Cys552Arg
NM_015386.2:c.1717T>C	NP_056201.2:p.Cys573Arg
XM_011522981.1:c.1291T>C	XP_011521283.1:p.Cys431Arg
XR_933266.1:n.1663T>C
XR_933267.1:n.1663T>C
XM_011522981.3:c.1291T>C	XP_011521283.1:p.Cys431Arg
XM_024450224.1:c.736T>C	XP_024305992.1:p.Cys246Arg
XR_001751889.1:n.1600T>C
XR_933266.2:n.1663T>C
NM_015386.3:c.1717T>C MANE Select	NP_056201.2:p.Cys573Arg
NM_001195139.2:c.1642T>C	NP_001182068.2:p.Cys548Arg
NM_001365426.1:c.1291T>C	NP_001352355.1:p.Cys431Arg
NR_158212.1:n.1676T>C