Canonical Allele Identifier: CA396576966

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70512358A>G , CM000678.2:g.70512358A>G	GRCh38
NC_000016.9:g.70546261A>G , CM000678.1:g.70546261A>G	GRCh37
NC_000016.8:g.69103762A>G	NCBI36
NG_027529.1:g.16197T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015386.3:c.619T>C MANE Select	NP_056201.2:p.Phe207Leu
ENST00000323786.10:c.619T>C MANE Select	ENSP00000315775.5:p.Phe207Leu
NM_001195139.1:c.619T>C	NP_001182068.1:p.Phe207Leu
NM_001195139.2:c.607T>C	NP_001182068.2:p.Phe203Leu
NM_001365426.1:c.193T>C	NP_001352355.1:p.Phe65Leu
NM_015386.2:c.619T>C	NP_056201.2:p.Phe207Leu
NR_158212.1:n.630T>C
ENST00000323786.9:c.619T>C	ENSP00000315775.5:p.Phe207Leu
ENST00000393612.8:c.619T>C	ENSP00000377236.5:p.Phe207Leu
ENST00000482252.5:c.607T>C	ENSP00000432802.1:p.Phe203Leu
ENST00000530160.1:c.*201T>C	ENSP00000434160.1:n.*201T>C
ENST00000530160.2:c.*201T>C	ENSP00000434160.2:n.*201T>C
ENST00000530314.5:n.532T>C
ENST00000534772.1:c.388T>C	ENSP00000461912.1:p.Phe130Leu
ENST00000534772.2:c.*695T>C	ENSP00000461912.2:n.*695T>C
ENST00000562200.5:n.616T>C
ENST00000564415.5:c.*399T>C	ENSP00000456653.1:n.*399T>C
ENST00000564415.6:c.*399T>C	ENSP00000456653.2:n.*399T>C
ENST00000564653.5:c.514-22T>C	ENSP00000454573.1:n.514-22T>C
ENST00000564653.6:c.502-22T>C	ENSP00000454573.2:n.502-22T>C
ENST00000674443.1:c.607T>C	ENSP00000501405.1:p.Phe203Leu
ENST00000703106.1:c.568T>C	ENSP00000515173.1:p.Phe190Leu
ENST00000703107.1:c.*548T>C	ENSP00000515174.1:n.*548T>C
ENST00000703108.1:c.607T>C	ENSP00000515175.1:p.Phe203Leu
ENST00000703109.1:c.526T>C	ENSP00000515176.1:p.Phe176Leu
ENST00000703110.1:c.*184T>C	ENSP00000515177.1:n.*184T>C
ENST00000703111.1:n.626T>C
ENST00000703112.1:n.626T>C
ENST00000703113.1:c.*32T>C	ENSP00000515178.1:n.*32T>C
ENST00000703114.1:c.607T>C	ENSP00000515179.1:p.Phe203Leu
ENST00000703115.1:c.475T>C	ENSP00000515180.1:p.Phe159Leu
XM_011522981.1:c.193T>C	XP_011521283.1:p.Phe65Leu
XM_011522981.3:c.193T>C	XP_011521283.1:p.Phe65Leu
XM_024450224.1:c.-1066T>C	XP_024305992.1:n.-1066T>C
XR_001751889.1:n.617T>C
XR_933266.1:n.617T>C
XR_933266.2:n.617T>C
XR_933267.1:n.617T>C