Canonical Allele Identifier: CA8144014

Gene: COG4

Linked Data

• dbSNP Id: rs748865010
• ExAC: 16:70515312 C / G
• gnomAD v2: 16-70515312-C-G
• gnomAD v4: 16-70481409-C-G
• MyVariant Identifiers: chr16:g.70515312C>G (hg19) ; chr16:g.70481409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481409C>G , CM000678.2:g.70481409C>G	GRCh38
NC_000016.9:g.70515312C>G , CM000678.1:g.70515312C>G	GRCh37
NC_000016.8:g.69072813C>G	NCBI36
NG_027529.1:g.47146G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2261G>C	ENSP00000461912.2:n.*2261G>C
ENST00000703106.1:c.2230G>C	ENSP00000515173.1:n.2230G>C
ENST00000703107.1:c.*2114G>C	ENSP00000515174.1:n.*2114G>C
ENST00000703108.1:c.*633G>C	ENSP00000515175.1:n.*633G>C
ENST00000703109.1:c.2218G>C	ENSP00000515176.1:p.Asp740His
ENST00000703110.1:c.*1687G>C	ENSP00000515177.1:n.*1687G>C
ENST00000703111.1:n.2468G>C
ENST00000703112.1:n.3129G>C
ENST00000703113.1:c.*1598G>C	ENSP00000515178.1:n.*1598G>C
ENST00000703114.1:c.*834G>C	ENSP00000515179.1:n.*834G>C
ENST00000703115.1:c.1298G>C	ENSP00000515180.1:n.1298G>C
ENST00000323786.10:c.2185G>C MANE Select	ENSP00000315775.5:p.Asp729His
ENST00000564415.6:c.*1965G>C	ENSP00000456653.2:n.*1965G>C
ENST00000674443.1:c.2110G>C	ENSP00000501405.1:p.Asp704His
ENST00000323786.9:c.2185G>C	ENSP00000315775.5:p.Asp729His
ENST00000393612.8:c.2122G>C	ENSP00000377236.5:p.Asp708His
ENST00000482252.5:c.2332G>C	ENSP00000432802.1:n.2332G>C
ENST00000526700.5:n.1361G>C
ENST00000530314.5:n.2864G>C
ENST00000564415.5:c.*1965G>C	ENSP00000456653.1:n.*1965G>C
ENST00000565715.1:c.247G>C	ENSP00000455693.1:p.Asp83His
NM_001195139.1:c.2122G>C	NP_001182068.1:p.Asp708His
NM_015386.2:c.2185G>C	NP_056201.2:p.Asp729His
XM_011522981.1:c.1759G>C	XP_011521283.1:p.Asp587His
XM_011522981.3:c.1759G>C	XP_011521283.1:p.Asp587His
XM_024450224.1:c.1204G>C	XP_024305992.1:p.Asp402His
XR_933266.2:n.2131G>C
NM_015386.3:c.2185G>C MANE Select	NP_056201.2:p.Asp729His
NM_001195139.2:c.2110G>C	NP_001182068.2:p.Asp704His
NM_001365426.1:c.1759G>C	NP_001352355.1:p.Asp587His
NR_158212.1:n.2144G>C