Canonical Allele Identifier: CA396578965

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481844A>G , CM000678.2:g.70481844A>G	GRCh38
NC_000016.9:g.70515747A>G , CM000678.1:g.70515747A>G	GRCh37
NC_000016.8:g.69073248A>G	NCBI36
NG_027529.1:g.46711T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015386.3:c.2026T>C MANE Select	NP_056201.2:p.Tyr676His
ENST00000323786.10:c.2026T>C MANE Select	ENSP00000315775.5:p.Tyr676His
NM_001195139.1:c.1963T>C	NP_001182068.1:p.Tyr655His
NM_001195139.2:c.1951T>C	NP_001182068.2:p.Tyr651His
NM_001365426.1:c.1600T>C	NP_001352355.1:p.Tyr534His
NM_015386.2:c.2026T>C	NP_056201.2:p.Tyr676His
NR_158212.1:n.1985T>C
ENST00000323786.9:c.2026T>C	ENSP00000315775.5:p.Tyr676His
ENST00000393612.8:c.1963T>C	ENSP00000377236.5:p.Tyr655His
ENST00000482252.5:c.2173T>C	ENSP00000432802.1:n.2173T>C
ENST00000526700.5:n.1202T>C
ENST00000530314.5:n.2705T>C
ENST00000534772.2:c.*2102T>C	ENSP00000461912.2:n.*2102T>C
ENST00000564415.5:c.*1806T>C	ENSP00000456653.1:n.*1806T>C
ENST00000564415.6:c.*1806T>C	ENSP00000456653.2:n.*1806T>C
ENST00000565715.1:c.88T>C	ENSP00000455693.1:p.Tyr30His
ENST00000674443.1:c.1951T>C	ENSP00000501405.1:p.Tyr651His
ENST00000703106.1:c.2071T>C	ENSP00000515173.1:n.2071T>C
ENST00000703107.1:c.*1955T>C	ENSP00000515174.1:n.*1955T>C
ENST00000703108.1:c.*474T>C	ENSP00000515175.1:n.*474T>C
ENST00000703109.1:c.2059T>C	ENSP00000515176.1:p.Tyr687His
ENST00000703110.1:c.*1528T>C	ENSP00000515177.1:n.*1528T>C
ENST00000703111.1:n.2033T>C
ENST00000703112.1:n.2799T>C
ENST00000703113.1:c.*1439T>C	ENSP00000515178.1:n.*1439T>C
ENST00000703114.1:c.*675T>C	ENSP00000515179.1:n.*675T>C
ENST00000703115.1:c.1139T>C	ENSP00000515180.1:n.1139T>C
XM_011522981.1:c.1600T>C	XP_011521283.1:p.Tyr534His
XM_011522981.3:c.1600T>C	XP_011521283.1:p.Tyr534His
XM_024450224.1:c.1045T>C	XP_024305992.1:p.Tyr349His
XR_001751889.1:n.1909T>C
XR_933266.1:n.1972T>C
XR_933266.2:n.1972T>C