Canonical Allele Identifier: CA8144329

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70497209A>G , CM000678.2:g.70497209A>G	GRCh38
NC_000016.9:g.70531112A>G , CM000678.1:g.70531112A>G	GRCh37
NC_000016.8:g.69088613A>G	NCBI36
NG_027529.1:g.31346T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015386.3:c.1481+12T>C MANE Select	NP_056201.2:n.1481+12T>C
ENST00000323786.10:c.1481+12T>C MANE Select	ENSP00000315775.5:n.1481+12T>C
NM_001195139.1:c.1481+12T>C	NP_001182068.1:n.1481+12T>C
NM_001195139.2:c.1469+12T>C	NP_001182068.2:n.1469+12T>C
NM_001365426.1:c.1055+12T>C	NP_001352355.1:n.1055+12T>C
NM_015386.2:c.1481+12T>C	NP_056201.2:n.1481+12T>C
NR_158212.1:n.1492+12T>C
ENST00000323786.9:c.1481+12T>C	ENSP00000315775.5:n.1481+12T>C
ENST00000393612.8:c.1481+12T>C	ENSP00000377236.5:n.1481+12T>C
ENST00000482252.5:c.1628+12T>C	ENSP00000432802.1:n.1628+12T>C
ENST00000526700.5:n.772+12T>C
ENST00000530314.5:n.2160+12T>C
ENST00000534772.2:c.*1557+12T>C	ENSP00000461912.2:n.*1557+12T>C
ENST00000564415.5:c.*1261+12T>C	ENSP00000456653.1:n.*1261+12T>C
ENST00000564415.6:c.*1261+12T>C	ENSP00000456653.2:n.*1261+12T>C
ENST00000674443.1:c.1469+12T>C	ENSP00000501405.1:n.1469+12T>C
ENST00000703106.1:c.1430+12T>C	ENSP00000515173.1:n.1430+12T>C
ENST00000703107.1:c.*1410+12T>C	ENSP00000515174.1:n.*1410+12T>C
ENST00000703108.1:c.1469+12T>C	ENSP00000515175.1:n.1469+12T>C
ENST00000703109.1:c.1388+12T>C	ENSP00000515176.1:n.1388+12T>C
ENST00000703110.1:c.*1046+12T>C	ENSP00000515177.1:n.*1046+12T>C
ENST00000703111.1:n.1488+12T>C
ENST00000703112.1:n.2254+12T>C
ENST00000703113.1:c.*894+12T>C	ENSP00000515178.1:n.*894+12T>C
ENST00000703114.1:c.*130+12T>C	ENSP00000515179.1:n.*130+12T>C
ENST00000703115.1:c.790-6846T>C	ENSP00000515180.1:n.790-6846T>C
XM_011522981.1:c.1055+12T>C	XP_011521283.1:n.1055+12T>C
XM_011522981.3:c.1055+12T>C	XP_011521283.1:n.1055+12T>C
XM_024450224.1:c.563+12T>C	XP_024305992.1:n.563+12T>C
XR_001751889.1:n.1479+12T>C
XR_933266.1:n.1479+12T>C
XR_933266.2:n.1479+12T>C
XR_933267.1:n.1479+12T>C