Canonical Allele Identifier: CA396580642

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517788C>G (hg19) ; chr16:g.70483885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483885C>G , CM000678.2:g.70483885C>G	GRCh38
NC_000016.9:g.70517788C>G , CM000678.1:g.70517788C>G	GRCh37
NC_000016.8:g.69075289C>G	NCBI36
NG_027529.1:g.44670G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1871G>C	ENSP00000461912.2:n.*1871G>C
ENST00000703106.1:c.1840G>C	ENSP00000515173.1:n.1840G>C
ENST00000703107.1:c.*1724G>C	ENSP00000515174.1:n.*1724G>C
ENST00000703108.1:c.*243G>C	ENSP00000515175.1:n.*243G>C
ENST00000703109.1:c.1828G>C	ENSP00000515176.1:p.Ala610Pro
ENST00000703110.1:c.*1297G>C	ENSP00000515177.1:n.*1297G>C
ENST00000703111.1:n.1802G>C
ENST00000703112.1:n.2568G>C
ENST00000703113.1:c.*1208G>C	ENSP00000515178.1:n.*1208G>C
ENST00000703114.1:c.*444G>C	ENSP00000515179.1:n.*444G>C
ENST00000703115.1:c.908G>C	ENSP00000515180.1:n.908G>C
ENST00000323786.10:c.1795G>C MANE Select	ENSP00000315775.5:p.Ala599Pro
ENST00000564415.6:c.*1575G>C	ENSP00000456653.2:n.*1575G>C
ENST00000674443.1:c.1720G>C	ENSP00000501405.1:p.Ala574Pro
ENST00000323786.9:c.1795G>C	ENSP00000315775.5:p.Ala599Pro
ENST00000393612.8:c.1732G>C	ENSP00000377236.5:p.Ala578Pro
ENST00000482252.5:c.1942G>C	ENSP00000432802.1:n.1942G>C
ENST00000526700.5:n.971G>C
ENST00000530314.5:n.2474G>C
ENST00000564315.1:n.255G>C
ENST00000564415.5:c.*1575G>C	ENSP00000456653.1:n.*1575G>C
NM_001195139.1:c.1732G>C	NP_001182068.1:p.Ala578Pro
NM_015386.2:c.1795G>C	NP_056201.2:p.Ala599Pro
XM_011522981.1:c.1369G>C	XP_011521283.1:p.Ala457Pro
XR_933266.1:n.1741G>C
XR_933267.1:n.1741G>C
XM_011522981.3:c.1369G>C	XP_011521283.1:p.Ala457Pro
XM_024450224.1:c.814G>C	XP_024305992.1:p.Ala272Pro
XR_001751889.1:n.1678G>C
XR_933266.2:n.1741G>C
NM_015386.3:c.1795G>C MANE Select	NP_056201.2:p.Ala599Pro
NM_001195139.2:c.1720G>C	NP_001182068.2:p.Ala574Pro
NM_001365426.1:c.1369G>C	NP_001352355.1:p.Ala457Pro
NR_158212.1:n.1754G>C