Canonical Allele Identifier: CA396578608

Gene: COG4

Linked Data

• ClinVar Variation Id: 1363796
• ClinVar RCV Id: RCV001905089
• dbSNP Id: rs2151736960
• MyVariant Identifiers: chr16:g.70515383C>G (hg19) ; chr16:g.70481480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481480C>G , CM000678.2:g.70481480C>G	GRCh38
NC_000016.9:g.70515383C>G , CM000678.1:g.70515383C>G	GRCh37
NC_000016.8:g.69072884C>G	NCBI36
NG_027529.1:g.47075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2190G>C	ENSP00000461912.2:n.*2190G>C
ENST00000703106.1:c.2159G>C	ENSP00000515173.1:n.2159G>C
ENST00000703107.1:c.*2043G>C	ENSP00000515174.1:n.*2043G>C
ENST00000703108.1:c.*562G>C	ENSP00000515175.1:n.*562G>C
ENST00000703109.1:c.2147G>C	ENSP00000515176.1:p.Gly716Ala
ENST00000703110.1:c.*1616G>C	ENSP00000515177.1:n.*1616G>C
ENST00000703111.1:n.2397G>C
ENST00000703112.1:n.3058G>C
ENST00000703113.1:c.*1527G>C	ENSP00000515178.1:n.*1527G>C
ENST00000703114.1:c.*763G>C	ENSP00000515179.1:n.*763G>C
ENST00000703115.1:c.1227G>C	ENSP00000515180.1:n.1227G>C
ENST00000323786.10:c.2114G>C MANE Select	ENSP00000315775.5:p.Gly705Ala
ENST00000564415.6:c.*1894G>C	ENSP00000456653.2:n.*1894G>C
ENST00000674443.1:c.2039G>C	ENSP00000501405.1:p.Gly680Ala
ENST00000323786.9:c.2114G>C	ENSP00000315775.5:p.Gly705Ala
ENST00000393612.8:c.2051G>C	ENSP00000377236.5:p.Gly684Ala
ENST00000482252.5:c.2261G>C	ENSP00000432802.1:n.2261G>C
ENST00000526700.5:n.1290G>C
ENST00000530314.5:n.2793G>C
ENST00000564415.5:c.*1894G>C	ENSP00000456653.1:n.*1894G>C
ENST00000565715.1:c.176G>C	ENSP00000455693.1:p.Gly59Ala
NM_001195139.1:c.2051G>C	NP_001182068.1:p.Gly684Ala
NM_015386.2:c.2114G>C	NP_056201.2:p.Gly705Ala
XM_011522981.1:c.1688G>C	XP_011521283.1:p.Gly563Ala
XM_011522981.3:c.1688G>C	XP_011521283.1:p.Gly563Ala
XM_024450224.1:c.1133G>C	XP_024305992.1:p.Gly378Ala
XR_001751889.1:n.1997G>C
XR_933266.2:n.2060G>C
NM_015386.3:c.2114G>C MANE Select	NP_056201.2:p.Gly705Ala
NM_001195139.2:c.2039G>C	NP_001182068.2:p.Gly680Ala
NM_001365426.1:c.1688G>C	NP_001352355.1:p.Gly563Ala
NR_158212.1:n.2073G>C