Canonical Allele Identifier: CA496227816

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515349A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481446A>G , CM000678.2:g.70481446A>G	GRCh38
NC_000016.9:g.70515349A>G , CM000678.1:g.70515349A>G	GRCh37
NC_000016.8:g.69072850A>G	NCBI36
NG_027529.1:g.47109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2224T>C	ENSP00000461912.2:n.*2224T>C
ENST00000703106.1:c.2193T>C	ENSP00000515173.1:n.2193T>C
ENST00000703107.1:c.*2077T>C	ENSP00000515174.1:n.*2077T>C
ENST00000703108.1:c.*596T>C	ENSP00000515175.1:n.*596T>C
ENST00000703109.1:c.2181T>C	ENSP00000515176.1:p.Ile727=
ENST00000703110.1:c.*1650T>C	ENSP00000515177.1:n.*1650T>C
ENST00000703111.1:n.2431T>C
ENST00000703112.1:n.3092T>C
ENST00000703113.1:c.*1561T>C	ENSP00000515178.1:n.*1561T>C
ENST00000703114.1:c.*797T>C	ENSP00000515179.1:n.*797T>C
ENST00000703115.1:c.1261T>C	ENSP00000515180.1:n.1261T>C
ENST00000323786.10:c.2148T>C MANE Select	ENSP00000315775.5:p.Ile716=
ENST00000564415.6:c.*1928T>C	ENSP00000456653.2:n.*1928T>C
ENST00000674443.1:c.2073T>C	ENSP00000501405.1:p.Ile691=
ENST00000323786.9:c.2148T>C	ENSP00000315775.5:p.Ile716=
ENST00000393612.8:c.2085T>C	ENSP00000377236.5:p.Ile695=
ENST00000482252.5:c.2295T>C	ENSP00000432802.1:n.2295T>C
ENST00000526700.5:n.1324T>C
ENST00000530314.5:n.2827T>C
ENST00000564415.5:c.*1928T>C	ENSP00000456653.1:n.*1928T>C
ENST00000565715.1:c.210T>C	ENSP00000455693.1:p.Ile70=
NM_001195139.1:c.2085T>C	NP_001182068.1:p.Ile695=
NM_015386.2:c.2148T>C	NP_056201.2:p.Ile716=
XM_011522981.1:c.1722T>C	XP_011521283.1:p.Ile574=
XM_011522981.3:c.1722T>C	XP_011521283.1:p.Ile574=
XM_024450224.1:c.1167T>C	XP_024305992.1:p.Ile389=
XR_933266.2:n.2094T>C
NM_015386.3:c.2148T>C MANE Select	NP_056201.2:p.Ile716=
NM_001195139.2:c.2073T>C	NP_001182068.2:p.Ile691=
NM_001365426.1:c.1722T>C	NP_001352355.1:p.Ile574=
NR_158212.1:n.2107T>C