Canonical Allele Identifier: CA396580611

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517773A>T (hg19) ; chr16:g.70483870A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483870A>T , CM000678.2:g.70483870A>T	GRCh38
NC_000016.9:g.70517773A>T , CM000678.1:g.70517773A>T	GRCh37
NC_000016.8:g.69075274A>T	NCBI36
NG_027529.1:g.44685T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1886T>A	ENSP00000461912.2:n.*1886T>A
ENST00000703106.1:c.1855T>A	ENSP00000515173.1:n.1855T>A
ENST00000703107.1:c.*1739T>A	ENSP00000515174.1:n.*1739T>A
ENST00000703108.1:c.*258T>A	ENSP00000515175.1:n.*258T>A
ENST00000703109.1:c.1843T>A	ENSP00000515176.1:p.Phe615Ile
ENST00000703110.1:c.*1312T>A	ENSP00000515177.1:n.*1312T>A
ENST00000703111.1:n.1817T>A
ENST00000703112.1:n.2583T>A
ENST00000703113.1:c.*1223T>A	ENSP00000515178.1:n.*1223T>A
ENST00000703114.1:c.*459T>A	ENSP00000515179.1:n.*459T>A
ENST00000703115.1:c.923T>A	ENSP00000515180.1:n.923T>A
ENST00000323786.10:c.1810T>A MANE Select	ENSP00000315775.5:p.Phe604Ile
ENST00000564415.6:c.*1590T>A	ENSP00000456653.2:n.*1590T>A
ENST00000674443.1:c.1735T>A	ENSP00000501405.1:p.Phe579Ile
ENST00000323786.9:c.1810T>A	ENSP00000315775.5:p.Phe604Ile
ENST00000393612.8:c.1747T>A	ENSP00000377236.5:p.Phe583Ile
ENST00000482252.5:c.1957T>A	ENSP00000432802.1:n.1957T>A
ENST00000526700.5:n.986T>A
ENST00000530314.5:n.2489T>A
ENST00000564315.1:n.270T>A
ENST00000564415.5:c.*1590T>A	ENSP00000456653.1:n.*1590T>A
NM_001195139.1:c.1747T>A	NP_001182068.1:p.Phe583Ile
NM_015386.2:c.1810T>A	NP_056201.2:p.Phe604Ile
XM_011522981.1:c.1384T>A	XP_011521283.1:p.Phe462Ile
XR_933266.1:n.1756T>A
XR_933267.1:n.1756T>A
XM_011522981.3:c.1384T>A	XP_011521283.1:p.Phe462Ile
XM_024450224.1:c.829T>A	XP_024305992.1:p.Phe277Ile
XR_001751889.1:n.1693T>A
XR_933266.2:n.1756T>A
NM_015386.3:c.1810T>A MANE Select	NP_056201.2:p.Phe604Ile
NM_001195139.2:c.1735T>A	NP_001182068.2:p.Phe579Ile
NM_001365426.1:c.1384T>A	NP_001352355.1:p.Phe462Ile
NR_158212.1:n.1769T>A