Canonical Allele Identifier: CA8144015

Gene: COG4

Linked Data

• dbSNP Id: rs768144606
• ExAC: 16:70515324 A / G
• gnomAD v2: 16-70515324-A-G
• gnomAD v4: 16-70481421-A-G
• MyVariant Identifiers: chr16:g.70515324A>G (hg19) ; chr16:g.70481421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481421A>G , CM000678.2:g.70481421A>G	GRCh38
NC_000016.9:g.70515324A>G , CM000678.1:g.70515324A>G	GRCh37
NC_000016.8:g.69072825A>G	NCBI36
NG_027529.1:g.47134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2249T>C	ENSP00000461912.2:n.*2249T>C
ENST00000703106.1:c.2218T>C	ENSP00000515173.1:n.2218T>C
ENST00000703107.1:c.*2102T>C	ENSP00000515174.1:n.*2102T>C
ENST00000703108.1:c.*621T>C	ENSP00000515175.1:n.*621T>C
ENST00000703109.1:c.2206T>C	ENSP00000515176.1:p.Trp736Arg
ENST00000703110.1:c.*1675T>C	ENSP00000515177.1:n.*1675T>C
ENST00000703111.1:n.2456T>C
ENST00000703112.1:n.3117T>C
ENST00000703113.1:c.*1586T>C	ENSP00000515178.1:n.*1586T>C
ENST00000703114.1:c.*822T>C	ENSP00000515179.1:n.*822T>C
ENST00000703115.1:c.1286T>C	ENSP00000515180.1:n.1286T>C
ENST00000323786.10:c.2173T>C MANE Select	ENSP00000315775.5:p.Trp725Arg
ENST00000564415.6:c.*1953T>C	ENSP00000456653.2:n.*1953T>C
ENST00000674443.1:c.2098T>C	ENSP00000501405.1:p.Trp700Arg
ENST00000323786.9:c.2173T>C	ENSP00000315775.5:p.Trp725Arg
ENST00000393612.8:c.2110T>C	ENSP00000377236.5:p.Trp704Arg
ENST00000482252.5:c.2320T>C	ENSP00000432802.1:n.2320T>C
ENST00000526700.5:n.1349T>C
ENST00000530314.5:n.2852T>C
ENST00000564415.5:c.*1953T>C	ENSP00000456653.1:n.*1953T>C
ENST00000565715.1:c.235T>C	ENSP00000455693.1:p.Trp79Arg
NM_001195139.1:c.2110T>C	NP_001182068.1:p.Trp704Arg
NM_015386.2:c.2173T>C	NP_056201.2:p.Trp725Arg
XM_011522981.1:c.1747T>C	XP_011521283.1:p.Trp583Arg
XM_011522981.3:c.1747T>C	XP_011521283.1:p.Trp583Arg
XM_024450224.1:c.1192T>C	XP_024305992.1:p.Trp398Arg
XR_933266.2:n.2119T>C
NM_015386.3:c.2173T>C MANE Select	NP_056201.2:p.Trp725Arg
NM_001195139.2:c.2098T>C	NP_001182068.2:p.Trp700Arg
NM_001365426.1:c.1747T>C	NP_001352355.1:p.Trp583Arg
NR_158212.1:n.2132T>C