Canonical Allele Identifier: CA396578174

Gene: COG4

Linked Data

• dbSNP Id: rs1597650836
• MyVariant Identifiers: chr16:g.70515321T>G (hg19) ; chr16:g.70481418T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481418T>G , CM000678.2:g.70481418T>G	GRCh38
NC_000016.9:g.70515321T>G , CM000678.1:g.70515321T>G	GRCh37
NC_000016.8:g.69072822T>G	NCBI36
NG_027529.1:g.47137A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2252A>C	ENSP00000461912.2:n.*2252A>C
ENST00000703106.1:c.2221A>C	ENSP00000515173.1:n.2221A>C
ENST00000703107.1:c.*2105A>C	ENSP00000515174.1:n.*2105A>C
ENST00000703108.1:c.*624A>C	ENSP00000515175.1:n.*624A>C
ENST00000703109.1:c.2209A>C	ENSP00000515176.1:p.Thr737Pro
ENST00000703110.1:c.*1678A>C	ENSP00000515177.1:n.*1678A>C
ENST00000703111.1:n.2459A>C
ENST00000703112.1:n.3120A>C
ENST00000703113.1:c.*1589A>C	ENSP00000515178.1:n.*1589A>C
ENST00000703114.1:c.*825A>C	ENSP00000515179.1:n.*825A>C
ENST00000703115.1:c.1289A>C	ENSP00000515180.1:n.1289A>C
ENST00000323786.10:c.2176A>C MANE Select	ENSP00000315775.5:p.Thr726Pro
ENST00000564415.6:c.*1956A>C	ENSP00000456653.2:n.*1956A>C
ENST00000674443.1:c.2101A>C	ENSP00000501405.1:p.Thr701Pro
ENST00000323786.9:c.2176A>C	ENSP00000315775.5:p.Thr726Pro
ENST00000393612.8:c.2113A>C	ENSP00000377236.5:p.Thr705Pro
ENST00000482252.5:c.2323A>C	ENSP00000432802.1:n.2323A>C
ENST00000526700.5:n.1352A>C
ENST00000530314.5:n.2855A>C
ENST00000564415.5:c.*1956A>C	ENSP00000456653.1:n.*1956A>C
ENST00000565715.1:c.238A>C	ENSP00000455693.1:p.Thr80Pro
NM_001195139.1:c.2113A>C	NP_001182068.1:p.Thr705Pro
NM_015386.2:c.2176A>C	NP_056201.2:p.Thr726Pro
XM_011522981.1:c.1750A>C	XP_011521283.1:p.Thr584Pro
XM_011522981.3:c.1750A>C	XP_011521283.1:p.Thr584Pro
XM_024450224.1:c.1195A>C	XP_024305992.1:p.Thr399Pro
XR_933266.2:n.2122A>C
NM_015386.3:c.2176A>C MANE Select	NP_056201.2:p.Thr726Pro
NM_001195139.2:c.2101A>C	NP_001182068.2:p.Thr701Pro
NM_001365426.1:c.1750A>C	NP_001352355.1:p.Thr584Pro
NR_158212.1:n.2135A>C