Canonical Allele Identifier: CA283441613

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70497287C>T , CM000678.2:g.70497287C>T	GRCh38
NC_000016.9:g.70531190C>T , CM000678.1:g.70531190C>T	GRCh37
NC_000016.8:g.69088691C>T	NCBI36
NG_027529.1:g.31268G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015386.3:c.1415G>A MANE Select	NP_056201.2:p.Ser472Asn
ENST00000323786.10:c.1415G>A MANE Select	ENSP00000315775.5:p.Ser472Asn
NM_001195139.1:c.1415G>A	NP_001182068.1:p.Ser472Asn
NM_001195139.2:c.1403G>A	NP_001182068.2:p.Ser468Asn
NM_001365426.1:c.989G>A	NP_001352355.1:p.Ser330Asn
NM_015386.2:c.1415G>A	NP_056201.2:p.Ser472Asn
NR_158212.1:n.1426G>A
ENST00000323786.9:c.1415G>A	ENSP00000315775.5:p.Ser472Asn
ENST00000393612.8:c.1415G>A	ENSP00000377236.5:p.Ser472Asn
ENST00000482252.5:c.1562G>A	ENSP00000432802.1:n.1562G>A
ENST00000526700.5:n.706G>A
ENST00000530314.5:n.2094G>A
ENST00000534772.2:c.*1491G>A	ENSP00000461912.2:n.*1491G>A
ENST00000564415.5:c.*1195G>A	ENSP00000456653.1:n.*1195G>A
ENST00000564415.6:c.*1195G>A	ENSP00000456653.2:n.*1195G>A
ENST00000674443.1:c.1403G>A	ENSP00000501405.1:p.Ser468Asn
ENST00000703106.1:c.1364G>A	ENSP00000515173.1:p.Ser455Asn
ENST00000703107.1:c.*1344G>A	ENSP00000515174.1:n.*1344G>A
ENST00000703108.1:c.1403G>A	ENSP00000515175.1:p.Ser468Asn
ENST00000703109.1:c.1322G>A	ENSP00000515176.1:p.Ser441Asn
ENST00000703110.1:c.*980G>A	ENSP00000515177.1:n.*980G>A
ENST00000703111.1:n.1422G>A
ENST00000703112.1:n.2188G>A
ENST00000703113.1:c.*828G>A	ENSP00000515178.1:n.*828G>A
ENST00000703114.1:c.*64G>A	ENSP00000515179.1:n.*64G>A
ENST00000703115.1:c.790-6924G>A	ENSP00000515180.1:n.790-6924G>A
XM_011522981.1:c.989G>A	XP_011521283.1:p.Ser330Asn
XM_011522981.3:c.989G>A	XP_011521283.1:p.Ser330Asn
XM_024450224.1:c.497G>A	XP_024305992.1:p.Ser166Asn
XR_001751889.1:n.1413G>A
XR_933266.1:n.1413G>A
XR_933266.2:n.1413G>A
XR_933267.1:n.1413G>A