Canonical Allele Identifier: CA396580784

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517851T>G (hg19) ; chr16:g.70483948T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483948T>G , CM000678.2:g.70483948T>G	GRCh38
NC_000016.9:g.70517851T>G , CM000678.1:g.70517851T>G	GRCh37
NC_000016.8:g.69075352T>G	NCBI36
NG_027529.1:g.44607A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1808A>C	ENSP00000461912.2:n.*1808A>C
ENST00000703106.1:c.1777A>C	ENSP00000515173.1:n.1777A>C
ENST00000703107.1:c.*1661A>C	ENSP00000515174.1:n.*1661A>C
ENST00000703108.1:c.*180A>C	ENSP00000515175.1:n.*180A>C
ENST00000703109.1:c.1765A>C	ENSP00000515176.1:p.Ser589Arg
ENST00000703110.1:c.*1234A>C	ENSP00000515177.1:n.*1234A>C
ENST00000703111.1:n.1739A>C
ENST00000703112.1:n.2505A>C
ENST00000703113.1:c.*1145A>C	ENSP00000515178.1:n.*1145A>C
ENST00000703114.1:c.*381A>C	ENSP00000515179.1:n.*381A>C
ENST00000703115.1:c.845A>C	ENSP00000515180.1:n.845A>C
ENST00000323786.10:c.1732A>C MANE Select	ENSP00000315775.5:p.Ser578Arg
ENST00000564415.6:c.*1512A>C	ENSP00000456653.2:n.*1512A>C
ENST00000674443.1:c.1657A>C	ENSP00000501405.1:p.Ser553Arg
ENST00000323786.9:c.1732A>C	ENSP00000315775.5:p.Ser578Arg
ENST00000393612.8:c.1669A>C	ENSP00000377236.5:p.Ser557Arg
ENST00000482252.5:c.1879A>C	ENSP00000432802.1:n.1879A>C
ENST00000526700.5:n.908A>C
ENST00000530314.5:n.2411A>C
ENST00000564315.1:n.192A>C
ENST00000564415.5:c.*1512A>C	ENSP00000456653.1:n.*1512A>C
NM_001195139.1:c.1669A>C	NP_001182068.1:p.Ser557Arg
NM_015386.2:c.1732A>C	NP_056201.2:p.Ser578Arg
XM_011522981.1:c.1306A>C	XP_011521283.1:p.Ser436Arg
XR_933266.1:n.1678A>C
XR_933267.1:n.1678A>C
XM_011522981.3:c.1306A>C	XP_011521283.1:p.Ser436Arg
XM_024450224.1:c.751A>C	XP_024305992.1:p.Ser251Arg
XR_001751889.1:n.1615A>C
XR_933266.2:n.1678A>C
NM_015386.3:c.1732A>C MANE Select	NP_056201.2:p.Ser578Arg
NM_001195139.2:c.1657A>C	NP_001182068.2:p.Ser553Arg
NM_001365426.1:c.1306A>C	NP_001352355.1:p.Ser436Arg
NR_158212.1:n.1691A>C