Canonical Allele Identifier: CA396578343

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515344T>G (hg19) ; chr16:g.70481441T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481441T>G , CM000678.2:g.70481441T>G	GRCh38
NC_000016.9:g.70515344T>G , CM000678.1:g.70515344T>G	GRCh37
NC_000016.8:g.69072845T>G	NCBI36
NG_027529.1:g.47114A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2229A>C	ENSP00000461912.2:n.*2229A>C
ENST00000703106.1:c.2198A>C	ENSP00000515173.1:n.2198A>C
ENST00000703107.1:c.*2082A>C	ENSP00000515174.1:n.*2082A>C
ENST00000703108.1:c.*601A>C	ENSP00000515175.1:n.*601A>C
ENST00000703109.1:c.2186A>C	ENSP00000515176.1:p.Tyr729Ser
ENST00000703110.1:c.*1655A>C	ENSP00000515177.1:n.*1655A>C
ENST00000703111.1:n.2436A>C
ENST00000703112.1:n.3097A>C
ENST00000703113.1:c.*1566A>C	ENSP00000515178.1:n.*1566A>C
ENST00000703114.1:c.*802A>C	ENSP00000515179.1:n.*802A>C
ENST00000703115.1:c.1266A>C	ENSP00000515180.1:n.1266A>C
ENST00000323786.10:c.2153A>C MANE Select	ENSP00000315775.5:p.Tyr718Ser
ENST00000564415.6:c.*1933A>C	ENSP00000456653.2:n.*1933A>C
ENST00000674443.1:c.2078A>C	ENSP00000501405.1:p.Tyr693Ser
ENST00000323786.9:c.2153A>C	ENSP00000315775.5:p.Tyr718Ser
ENST00000393612.8:c.2090A>C	ENSP00000377236.5:p.Tyr697Ser
ENST00000482252.5:c.2300A>C	ENSP00000432802.1:n.2300A>C
ENST00000526700.5:n.1329A>C
ENST00000530314.5:n.2832A>C
ENST00000564415.5:c.*1933A>C	ENSP00000456653.1:n.*1933A>C
ENST00000565715.1:c.215A>C	ENSP00000455693.1:p.Tyr72Ser
NM_001195139.1:c.2090A>C	NP_001182068.1:p.Tyr697Ser
NM_015386.2:c.2153A>C	NP_056201.2:p.Tyr718Ser
XM_011522981.1:c.1727A>C	XP_011521283.1:p.Tyr576Ser
XM_011522981.3:c.1727A>C	XP_011521283.1:p.Tyr576Ser
XM_024450224.1:c.1172A>C	XP_024305992.1:p.Tyr391Ser
XR_933266.2:n.2099A>C
NM_015386.3:c.2153A>C MANE Select	NP_056201.2:p.Tyr718Ser
NM_001195139.2:c.2078A>C	NP_001182068.2:p.Tyr693Ser
NM_001365426.1:c.1727A>C	NP_001352355.1:p.Tyr576Ser
NR_158212.1:n.2112A>C