Canonical Allele Identifier: CA396578470

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515364C>G (hg19) ; chr16:g.70481461C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481461C>G , CM000678.2:g.70481461C>G	GRCh38
NC_000016.9:g.70515364C>G , CM000678.1:g.70515364C>G	GRCh37
NC_000016.8:g.69072865C>G	NCBI36
NG_027529.1:g.47094G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2209G>C	ENSP00000461912.2:n.*2209G>C
ENST00000703106.1:c.2178G>C	ENSP00000515173.1:n.2178G>C
ENST00000703107.1:c.*2062G>C	ENSP00000515174.1:n.*2062G>C
ENST00000703108.1:c.*581G>C	ENSP00000515175.1:n.*581G>C
ENST00000703109.1:c.2166G>C	ENSP00000515176.1:p.Glu722Asp
ENST00000703110.1:c.*1635G>C	ENSP00000515177.1:n.*1635G>C
ENST00000703111.1:n.2416G>C
ENST00000703112.1:n.3077G>C
ENST00000703113.1:c.*1546G>C	ENSP00000515178.1:n.*1546G>C
ENST00000703114.1:c.*782G>C	ENSP00000515179.1:n.*782G>C
ENST00000703115.1:c.1246G>C	ENSP00000515180.1:n.1246G>C
ENST00000323786.10:c.2133G>C MANE Select	ENSP00000315775.5:p.Glu711Asp
ENST00000564415.6:c.*1913G>C	ENSP00000456653.2:n.*1913G>C
ENST00000674443.1:c.2058G>C	ENSP00000501405.1:p.Glu686Asp
ENST00000323786.9:c.2133G>C	ENSP00000315775.5:p.Glu711Asp
ENST00000393612.8:c.2070G>C	ENSP00000377236.5:p.Glu690Asp
ENST00000482252.5:c.2280G>C	ENSP00000432802.1:n.2280G>C
ENST00000526700.5:n.1309G>C
ENST00000530314.5:n.2812G>C
ENST00000564415.5:c.*1913G>C	ENSP00000456653.1:n.*1913G>C
ENST00000565715.1:c.195G>C	ENSP00000455693.1:p.Glu65Asp
NM_001195139.1:c.2070G>C	NP_001182068.1:p.Glu690Asp
NM_015386.2:c.2133G>C	NP_056201.2:p.Glu711Asp
XM_011522981.1:c.1707G>C	XP_011521283.1:p.Glu569Asp
XM_011522981.3:c.1707G>C	XP_011521283.1:p.Glu569Asp
XM_024450224.1:c.1152G>C	XP_024305992.1:p.Glu384Asp
XR_001751889.1:n.2016G>C
XR_933266.2:n.2079G>C
NM_015386.3:c.2133G>C MANE Select	NP_056201.2:p.Glu711Asp
NM_001195139.2:c.2058G>C	NP_001182068.2:p.Glu686Asp
NM_001365426.1:c.1707G>C	NP_001352355.1:p.Glu569Asp
NR_158212.1:n.2092G>C