Canonical Allele Identifier: CA396580795

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517857G>A (hg19) ; chr16:g.70483954G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483954G>A , CM000678.2:g.70483954G>A	GRCh38
NC_000016.9:g.70517857G>A , CM000678.1:g.70517857G>A	GRCh37
NC_000016.8:g.69075358G>A	NCBI36
NG_027529.1:g.44601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1802C>T	ENSP00000461912.2:n.*1802C>T
ENST00000703106.1:c.1771C>T	ENSP00000515173.1:n.1771C>T
ENST00000703107.1:c.*1655C>T	ENSP00000515174.1:n.*1655C>T
ENST00000703108.1:c.*174C>T	ENSP00000515175.1:n.*174C>T
ENST00000703109.1:c.1759C>T	ENSP00000515176.1:p.Leu587Phe
ENST00000703110.1:c.*1228C>T	ENSP00000515177.1:n.*1228C>T
ENST00000703111.1:n.1733C>T
ENST00000703112.1:n.2499C>T
ENST00000703113.1:c.*1139C>T	ENSP00000515178.1:n.*1139C>T
ENST00000703114.1:c.*375C>T	ENSP00000515179.1:n.*375C>T
ENST00000703115.1:c.839C>T	ENSP00000515180.1:n.839C>T
ENST00000323786.10:c.1726C>T MANE Select	ENSP00000315775.5:p.Leu576Phe
ENST00000564415.6:c.*1506C>T	ENSP00000456653.2:n.*1506C>T
ENST00000674443.1:c.1651C>T	ENSP00000501405.1:p.Leu551Phe
ENST00000323786.9:c.1726C>T	ENSP00000315775.5:p.Leu576Phe
ENST00000393612.8:c.1663C>T	ENSP00000377236.5:p.Leu555Phe
ENST00000482252.5:c.1873C>T	ENSP00000432802.1:n.1873C>T
ENST00000526700.5:n.902C>T
ENST00000530314.5:n.2405C>T
ENST00000564315.1:n.186C>T
ENST00000564415.5:c.*1506C>T	ENSP00000456653.1:n.*1506C>T
NM_001195139.1:c.1663C>T	NP_001182068.1:p.Leu555Phe
NM_015386.2:c.1726C>T	NP_056201.2:p.Leu576Phe
XM_011522981.1:c.1300C>T	XP_011521283.1:p.Leu434Phe
XR_933266.1:n.1672C>T
XR_933267.1:n.1672C>T
XM_011522981.3:c.1300C>T	XP_011521283.1:p.Leu434Phe
XM_024450224.1:c.745C>T	XP_024305992.1:p.Leu249Phe
XR_001751889.1:n.1609C>T
XR_933266.2:n.1672C>T
NM_015386.3:c.1726C>T MANE Select	NP_056201.2:p.Leu576Phe
NM_001195139.2:c.1651C>T	NP_001182068.2:p.Leu551Phe
NM_001365426.1:c.1300C>T	NP_001352355.1:p.Leu434Phe
NR_158212.1:n.1685C>T