Canonical Allele Identifier: CA396578367

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515348C>A (hg19) ; chr16:g.70481445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481445C>A , CM000678.2:g.70481445C>A	GRCh38
NC_000016.9:g.70515348C>A , CM000678.1:g.70515348C>A	GRCh37
NC_000016.8:g.69072849C>A	NCBI36
NG_027529.1:g.47110G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2225G>T	ENSP00000461912.2:n.*2225G>T
ENST00000703106.1:c.2194G>T	ENSP00000515173.1:n.2194G>T
ENST00000703107.1:c.*2078G>T	ENSP00000515174.1:n.*2078G>T
ENST00000703108.1:c.*597G>T	ENSP00000515175.1:n.*597G>T
ENST00000703109.1:c.2182G>T	ENSP00000515176.1:p.Ala728Ser
ENST00000703110.1:c.*1651G>T	ENSP00000515177.1:n.*1651G>T
ENST00000703111.1:n.2432G>T
ENST00000703112.1:n.3093G>T
ENST00000703113.1:c.*1562G>T	ENSP00000515178.1:n.*1562G>T
ENST00000703114.1:c.*798G>T	ENSP00000515179.1:n.*798G>T
ENST00000703115.1:c.1262G>T	ENSP00000515180.1:n.1262G>T
ENST00000323786.10:c.2149G>T MANE Select	ENSP00000315775.5:p.Ala717Ser
ENST00000564415.6:c.*1929G>T	ENSP00000456653.2:n.*1929G>T
ENST00000674443.1:c.2074G>T	ENSP00000501405.1:p.Ala692Ser
ENST00000323786.9:c.2149G>T	ENSP00000315775.5:p.Ala717Ser
ENST00000393612.8:c.2086G>T	ENSP00000377236.5:p.Ala696Ser
ENST00000482252.5:c.2296G>T	ENSP00000432802.1:n.2296G>T
ENST00000526700.5:n.1325G>T
ENST00000530314.5:n.2828G>T
ENST00000564415.5:c.*1929G>T	ENSP00000456653.1:n.*1929G>T
ENST00000565715.1:c.211G>T	ENSP00000455693.1:p.Ala71Ser
NM_001195139.1:c.2086G>T	NP_001182068.1:p.Ala696Ser
NM_015386.2:c.2149G>T	NP_056201.2:p.Ala717Ser
XM_011522981.1:c.1723G>T	XP_011521283.1:p.Ala575Ser
XM_011522981.3:c.1723G>T	XP_011521283.1:p.Ala575Ser
XM_024450224.1:c.1168G>T	XP_024305992.1:p.Ala390Ser
XR_933266.2:n.2095G>T
NM_015386.3:c.2149G>T MANE Select	NP_056201.2:p.Ala717Ser
NM_001195139.2:c.2074G>T	NP_001182068.2:p.Ala692Ser
NM_001365426.1:c.1723G>T	NP_001352355.1:p.Ala575Ser
NR_158212.1:n.2108G>T