Canonical Allele Identifier: CA396580786

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517852G>T (hg19) ; chr16:g.70483949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483949G>T , CM000678.2:g.70483949G>T	GRCh38
NC_000016.9:g.70517852G>T , CM000678.1:g.70517852G>T	GRCh37
NC_000016.8:g.69075353G>T	NCBI36
NG_027529.1:g.44606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1807C>A	ENSP00000461912.2:n.*1807C>A
ENST00000703106.1:c.1776C>A	ENSP00000515173.1:n.1776C>A
ENST00000703107.1:c.*1660C>A	ENSP00000515174.1:n.*1660C>A
ENST00000703108.1:c.*179C>A	ENSP00000515175.1:n.*179C>A
ENST00000703109.1:c.1764C>A	ENSP00000515176.1:p.Phe588Leu
ENST00000703110.1:c.*1233C>A	ENSP00000515177.1:n.*1233C>A
ENST00000703111.1:n.1738C>A
ENST00000703112.1:n.2504C>A
ENST00000703113.1:c.*1144C>A	ENSP00000515178.1:n.*1144C>A
ENST00000703114.1:c.*380C>A	ENSP00000515179.1:n.*380C>A
ENST00000703115.1:c.844C>A	ENSP00000515180.1:n.844C>A
ENST00000323786.10:c.1731C>A MANE Select	ENSP00000315775.5:p.Phe577Leu
ENST00000564415.6:c.*1511C>A	ENSP00000456653.2:n.*1511C>A
ENST00000674443.1:c.1656C>A	ENSP00000501405.1:p.Phe552Leu
ENST00000323786.9:c.1731C>A	ENSP00000315775.5:p.Phe577Leu
ENST00000393612.8:c.1668C>A	ENSP00000377236.5:p.Phe556Leu
ENST00000482252.5:c.1878C>A	ENSP00000432802.1:n.1878C>A
ENST00000526700.5:n.907C>A
ENST00000530314.5:n.2410C>A
ENST00000564315.1:n.191C>A
ENST00000564415.5:c.*1511C>A	ENSP00000456653.1:n.*1511C>A
NM_001195139.1:c.1668C>A	NP_001182068.1:p.Phe556Leu
NM_015386.2:c.1731C>A	NP_056201.2:p.Phe577Leu
XM_011522981.1:c.1305C>A	XP_011521283.1:p.Phe435Leu
XR_933266.1:n.1677C>A
XR_933267.1:n.1677C>A
XM_011522981.3:c.1305C>A	XP_011521283.1:p.Phe435Leu
XM_024450224.1:c.750C>A	XP_024305992.1:p.Phe250Leu
XR_001751889.1:n.1614C>A
XR_933266.2:n.1677C>A
NM_015386.3:c.1731C>A MANE Select	NP_056201.2:p.Phe577Leu
NM_001195139.2:c.1656C>A	NP_001182068.2:p.Phe552Leu
NM_001365426.1:c.1305C>A	NP_001352355.1:p.Phe435Leu
NR_158212.1:n.1690C>A