Canonical Allele Identifier: CA8144295

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70496353G>A , CM000678.2:g.70496353G>A	GRCh38
NC_000016.9:g.70530256G>A , CM000678.1:g.70530256G>A	GRCh37
NC_000016.8:g.69087757G>A	NCBI36
NG_027529.1:g.32202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1636C>T	ENSP00000461912.2:n.*1636C>T
ENST00000703106.1:c.1509C>T	ENSP00000515173.1:p.Ala503=
ENST00000703107.1:c.*1489C>T	ENSP00000515174.1:n.*1489C>T
ENST00000703108.1:c.*8C>T	ENSP00000515175.1:n.*8C>T
ENST00000703109.1:c.1467C>T	ENSP00000515176.1:p.Ala489=
ENST00000703110.1:c.*1125C>T	ENSP00000515177.1:n.*1125C>T
ENST00000703111.1:n.1567C>T
ENST00000703112.1:n.2333C>T
ENST00000703113.1:c.*973C>T	ENSP00000515178.1:n.*973C>T
ENST00000703114.1:c.*209C>T	ENSP00000515179.1:n.*209C>T
ENST00000703115.1:c.790-5990C>T	ENSP00000515180.1:n.790-5990C>T
ENST00000323786.10:c.1560C>T MANE Select	ENSP00000315775.5:p.Ala520=
ENST00000564415.6:c.*1340C>T	ENSP00000456653.2:n.*1340C>T
ENST00000674443.1:c.1548C>T	ENSP00000501405.1:p.Ala516=
ENST00000323786.9:c.1560C>T	ENSP00000315775.5:p.Ala520=
ENST00000393612.8:c.1560C>T	ENSP00000377236.5:p.Ala520=
ENST00000482252.5:c.1707C>T	ENSP00000432802.1:n.1707C>T
ENST00000526700.5:n.799C>T
ENST00000530314.5:n.2239C>T
ENST00000564315.1:n.20C>T
ENST00000564415.5:c.*1340C>T	ENSP00000456653.1:n.*1340C>T
NM_001195139.1:c.1560C>T	NP_001182068.1:p.Ala520=
NM_015386.2:c.1560C>T	NP_056201.2:p.Ala520=
XM_011522981.1:c.1134C>T	XP_011521283.1:p.Ala378=
XR_933266.1:n.1506C>T
XR_933267.1:n.1506C>T
XM_011522981.3:c.1134C>T	XP_011521283.1:p.Ala378=
XM_024450224.1:c.642C>T	XP_024305992.1:p.Ala214=
XR_001751889.1:n.1506C>T
XR_933266.2:n.1506C>T
NM_015386.3:c.1560C>T MANE Select	NP_056201.2:p.Ala520=
NM_001195139.2:c.1548C>T	NP_001182068.2:p.Ala516=
NM_001365426.1:c.1134C>T	NP_001352355.1:p.Ala378=
NR_158212.1:n.1519C>T