Canonical Allele Identifier: CA396580748

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517835C>G (hg19) ; chr16:g.70483932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483932C>G , CM000678.2:g.70483932C>G	GRCh38
NC_000016.9:g.70517835C>G , CM000678.1:g.70517835C>G	GRCh37
NC_000016.8:g.69075336C>G	NCBI36
NG_027529.1:g.44623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1824G>C	ENSP00000461912.2:n.*1824G>C
ENST00000703106.1:c.1793G>C	ENSP00000515173.1:n.1793G>C
ENST00000703107.1:c.*1677G>C	ENSP00000515174.1:n.*1677G>C
ENST00000703108.1:c.*196G>C	ENSP00000515175.1:n.*196G>C
ENST00000703109.1:c.1781G>C	ENSP00000515176.1:p.Gly594Ala
ENST00000703110.1:c.*1250G>C	ENSP00000515177.1:n.*1250G>C
ENST00000703111.1:n.1755G>C
ENST00000703112.1:n.2521G>C
ENST00000703113.1:c.*1161G>C	ENSP00000515178.1:n.*1161G>C
ENST00000703114.1:c.*397G>C	ENSP00000515179.1:n.*397G>C
ENST00000703115.1:c.861G>C	ENSP00000515180.1:n.861G>C
ENST00000323786.10:c.1748G>C MANE Select	ENSP00000315775.5:p.Gly583Ala
ENST00000564415.6:c.*1528G>C	ENSP00000456653.2:n.*1528G>C
ENST00000674443.1:c.1673G>C	ENSP00000501405.1:p.Gly558Ala
ENST00000323786.9:c.1748G>C	ENSP00000315775.5:p.Gly583Ala
ENST00000393612.8:c.1685G>C	ENSP00000377236.5:p.Gly562Ala
ENST00000482252.5:c.1895G>C	ENSP00000432802.1:n.1895G>C
ENST00000526700.5:n.924G>C
ENST00000530314.5:n.2427G>C
ENST00000564315.1:n.208G>C
ENST00000564415.5:c.*1528G>C	ENSP00000456653.1:n.*1528G>C
NM_001195139.1:c.1685G>C	NP_001182068.1:p.Gly562Ala
NM_015386.2:c.1748G>C	NP_056201.2:p.Gly583Ala
XM_011522981.1:c.1322G>C	XP_011521283.1:p.Gly441Ala
XR_933266.1:n.1694G>C
XR_933267.1:n.1694G>C
XM_011522981.3:c.1322G>C	XP_011521283.1:p.Gly441Ala
XM_024450224.1:c.767G>C	XP_024305992.1:p.Gly256Ala
XR_001751889.1:n.1631G>C
XR_933266.2:n.1694G>C
NM_015386.3:c.1748G>C MANE Select	NP_056201.2:p.Gly583Ala
NM_001195139.2:c.1673G>C	NP_001182068.2:p.Gly558Ala
NM_001365426.1:c.1322G>C	NP_001352355.1:p.Gly441Ala
NR_158212.1:n.1707G>C