Canonical Allele Identifier: CA8143975

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481102A>G , CM000678.2:g.70481102A>G	GRCh38
NC_000016.9:g.70515005A>G , CM000678.1:g.70515005A>G	GRCh37
NC_000016.8:g.69072506A>G	NCBI36
NG_027529.1:g.47453T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2354T>C	ENSP00000461912.2:n.*2354T>C
ENST00000703106.1:c.2323T>C	ENSP00000515173.1:n.2323T>C
ENST00000703107.1:c.*2207T>C	ENSP00000515174.1:n.*2207T>C
ENST00000703108.1:c.*726T>C	ENSP00000515175.1:n.*726T>C
ENST00000703109.1:c.2311T>C	ENSP00000515176.1:p.Leu771=
ENST00000703110.1:c.*1780T>C	ENSP00000515177.1:n.*1780T>C
ENST00000703111.1:n.2561T>C
ENST00000703112.1:n.3222T>C
ENST00000703113.1:c.*1691T>C	ENSP00000515178.1:n.*1691T>C
ENST00000703114.1:c.*927T>C	ENSP00000515179.1:n.*927T>C
ENST00000703115.1:c.1391T>C	ENSP00000515180.1:n.1391T>C
ENST00000323786.10:c.2278T>C MANE Select	ENSP00000315775.5:p.Leu760=
ENST00000564415.6:c.*2058T>C	ENSP00000456653.2:n.*2058T>C
ENST00000674443.1:c.2203T>C	ENSP00000501405.1:p.Leu735=
ENST00000323786.9:c.2278T>C	ENSP00000315775.5:p.Leu760=
ENST00000393612.8:c.2215T>C	ENSP00000377236.5:p.Leu739=
ENST00000482252.5:c.2425T>C	ENSP00000432802.1:n.2425T>C
ENST00000526700.5:n.1454T>C
ENST00000530314.5:n.2957T>C
ENST00000564415.5:c.*2058T>C	ENSP00000456653.1:n.*2058T>C
ENST00000565715.1:c.340T>C	ENSP00000455693.1:p.Leu114=
NM_001195139.1:c.2215T>C	NP_001182068.1:p.Leu739=
NM_015386.2:c.2278T>C	NP_056201.2:p.Leu760=
XM_011522981.1:c.1852T>C	XP_011521283.1:p.Leu618=
XM_011522981.3:c.1852T>C	XP_011521283.1:p.Leu618=
XM_024450224.1:c.1297T>C	XP_024305992.1:p.Leu433=
XR_933266.2:n.2224T>C
NM_015386.3:c.2278T>C MANE Select	NP_056201.2:p.Leu760=
NM_001195139.2:c.2203T>C	NP_001182068.2:p.Leu735=
NM_001365426.1:c.1852T>C	NP_001352355.1:p.Leu618=
NR_158212.1:n.2237T>C