Canonical Allele Identifier: CA396580698

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517812C>G (hg19) ; chr16:g.70483909C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483909C>G , CM000678.2:g.70483909C>G	GRCh38
NC_000016.9:g.70517812C>G , CM000678.1:g.70517812C>G	GRCh37
NC_000016.8:g.69075313C>G	NCBI36
NG_027529.1:g.44646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1847G>C	ENSP00000461912.2:n.*1847G>C
ENST00000703106.1:c.1816G>C	ENSP00000515173.1:n.1816G>C
ENST00000703107.1:c.*1700G>C	ENSP00000515174.1:n.*1700G>C
ENST00000703108.1:c.*219G>C	ENSP00000515175.1:n.*219G>C
ENST00000703109.1:c.1804G>C	ENSP00000515176.1:p.Asp602His
ENST00000703110.1:c.*1273G>C	ENSP00000515177.1:n.*1273G>C
ENST00000703111.1:n.1778G>C
ENST00000703112.1:n.2544G>C
ENST00000703113.1:c.*1184G>C	ENSP00000515178.1:n.*1184G>C
ENST00000703114.1:c.*420G>C	ENSP00000515179.1:n.*420G>C
ENST00000703115.1:c.884G>C	ENSP00000515180.1:n.884G>C
ENST00000323786.10:c.1771G>C MANE Select	ENSP00000315775.5:p.Asp591His
ENST00000564415.6:c.*1551G>C	ENSP00000456653.2:n.*1551G>C
ENST00000674443.1:c.1696G>C	ENSP00000501405.1:p.Asp566His
ENST00000323786.9:c.1771G>C	ENSP00000315775.5:p.Asp591His
ENST00000393612.8:c.1708G>C	ENSP00000377236.5:p.Asp570His
ENST00000482252.5:c.1918G>C	ENSP00000432802.1:n.1918G>C
ENST00000526700.5:n.947G>C
ENST00000530314.5:n.2450G>C
ENST00000564315.1:n.231G>C
ENST00000564415.5:c.*1551G>C	ENSP00000456653.1:n.*1551G>C
NM_001195139.1:c.1708G>C	NP_001182068.1:p.Asp570His
NM_015386.2:c.1771G>C	NP_056201.2:p.Asp591His
XM_011522981.1:c.1345G>C	XP_011521283.1:p.Asp449His
XR_933266.1:n.1717G>C
XR_933267.1:n.1717G>C
XM_011522981.3:c.1345G>C	XP_011521283.1:p.Asp449His
XM_024450224.1:c.790G>C	XP_024305992.1:p.Asp264His
XR_001751889.1:n.1654G>C
XR_933266.2:n.1717G>C
NM_015386.3:c.1771G>C MANE Select	NP_056201.2:p.Asp591His
NM_001195139.2:c.1696G>C	NP_001182068.2:p.Asp566His
NM_001365426.1:c.1345G>C	NP_001352355.1:p.Asp449His
NR_158212.1:n.1730G>C