Canonical Allele Identifier: CA396580810

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517863T>G (hg19) ; chr16:g.70483960T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483960T>G , CM000678.2:g.70483960T>G	GRCh38
NC_000016.9:g.70517863T>G , CM000678.1:g.70517863T>G	GRCh37
NC_000016.8:g.69075364T>G	NCBI36
NG_027529.1:g.44595A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1796A>C	ENSP00000461912.2:n.*1796A>C
ENST00000703106.1:c.1765A>C	ENSP00000515173.1:n.1765A>C
ENST00000703107.1:c.*1649A>C	ENSP00000515174.1:n.*1649A>C
ENST00000703108.1:c.*168A>C	ENSP00000515175.1:n.*168A>C
ENST00000703109.1:c.1753A>C	ENSP00000515176.1:p.Thr585Pro
ENST00000703110.1:c.*1222A>C	ENSP00000515177.1:n.*1222A>C
ENST00000703111.1:n.1727A>C
ENST00000703112.1:n.2493A>C
ENST00000703113.1:c.*1133A>C	ENSP00000515178.1:n.*1133A>C
ENST00000703114.1:c.*369A>C	ENSP00000515179.1:n.*369A>C
ENST00000703115.1:c.833A>C	ENSP00000515180.1:n.833A>C
ENST00000323786.10:c.1720A>C MANE Select	ENSP00000315775.5:p.Thr574Pro
ENST00000564415.6:c.*1500A>C	ENSP00000456653.2:n.*1500A>C
ENST00000674443.1:c.1645A>C	ENSP00000501405.1:p.Thr549Pro
ENST00000323786.9:c.1720A>C	ENSP00000315775.5:p.Thr574Pro
ENST00000393612.8:c.1657A>C	ENSP00000377236.5:p.Thr553Pro
ENST00000482252.5:c.1867A>C	ENSP00000432802.1:n.1867A>C
ENST00000526700.5:n.896A>C
ENST00000530314.5:n.2399A>C
ENST00000564315.1:n.180A>C
ENST00000564415.5:c.*1500A>C	ENSP00000456653.1:n.*1500A>C
NM_001195139.1:c.1657A>C	NP_001182068.1:p.Thr553Pro
NM_015386.2:c.1720A>C	NP_056201.2:p.Thr574Pro
XM_011522981.1:c.1294A>C	XP_011521283.1:p.Thr432Pro
XR_933266.1:n.1666A>C
XR_933267.1:n.1666A>C
XM_011522981.3:c.1294A>C	XP_011521283.1:p.Thr432Pro
XM_024450224.1:c.739A>C	XP_024305992.1:p.Thr247Pro
XR_001751889.1:n.1603A>C
XR_933266.2:n.1666A>C
NM_015386.3:c.1720A>C MANE Select	NP_056201.2:p.Thr574Pro
NM_001195139.2:c.1645A>C	NP_001182068.2:p.Thr549Pro
NM_001365426.1:c.1294A>C	NP_001352355.1:p.Thr432Pro
NR_158212.1:n.1679A>C