Canonical Allele Identifier: CA396578480

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515366C>A (hg19) ; chr16:g.70481463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481463C>A , CM000678.2:g.70481463C>A	GRCh38
NC_000016.9:g.70515366C>A , CM000678.1:g.70515366C>A	GRCh37
NC_000016.8:g.69072867C>A	NCBI36
NG_027529.1:g.47092G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2207G>T	ENSP00000461912.2:n.*2207G>T
ENST00000703106.1:c.2176G>T	ENSP00000515173.1:n.2176G>T
ENST00000703107.1:c.*2060G>T	ENSP00000515174.1:n.*2060G>T
ENST00000703108.1:c.*579G>T	ENSP00000515175.1:n.*579G>T
ENST00000703109.1:c.2164G>T	ENSP00000515176.1:p.Glu722Ter
ENST00000703110.1:c.*1633G>T	ENSP00000515177.1:n.*1633G>T
ENST00000703111.1:n.2414G>T
ENST00000703112.1:n.3075G>T
ENST00000703113.1:c.*1544G>T	ENSP00000515178.1:n.*1544G>T
ENST00000703114.1:c.*780G>T	ENSP00000515179.1:n.*780G>T
ENST00000703115.1:c.1244G>T	ENSP00000515180.1:n.1244G>T
ENST00000323786.10:c.2131G>T MANE Select	ENSP00000315775.5:p.Glu711Ter
ENST00000564415.6:c.*1911G>T	ENSP00000456653.2:n.*1911G>T
ENST00000674443.1:c.2056G>T	ENSP00000501405.1:p.Glu686Ter
ENST00000323786.9:c.2131G>T	ENSP00000315775.5:p.Glu711Ter
ENST00000393612.8:c.2068G>T	ENSP00000377236.5:p.Glu690Ter
ENST00000482252.5:c.2278G>T	ENSP00000432802.1:n.2278G>T
ENST00000526700.5:n.1307G>T
ENST00000530314.5:n.2810G>T
ENST00000564415.5:c.*1911G>T	ENSP00000456653.1:n.*1911G>T
ENST00000565715.1:c.193G>T	ENSP00000455693.1:p.Glu65Ter
NM_001195139.1:c.2068G>T	NP_001182068.1:p.Glu690Ter
NM_015386.2:c.2131G>T	NP_056201.2:p.Glu711Ter
XM_011522981.1:c.1705G>T	XP_011521283.1:p.Glu569Ter
XM_011522981.3:c.1705G>T	XP_011521283.1:p.Glu569Ter
XM_024450224.1:c.1150G>T	XP_024305992.1:p.Glu384Ter
XR_001751889.1:n.2014G>T
XR_933266.2:n.2077G>T
NM_015386.3:c.2131G>T MANE Select	NP_056201.2:p.Glu711Ter
NM_001195139.2:c.2056G>T	NP_001182068.2:p.Glu686Ter
NM_001365426.1:c.1705G>T	NP_001352355.1:p.Glu569Ter
NR_158212.1:n.2090G>T