Canonical Allele Identifier: CA396580673

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517803G>A (hg19) ; chr16:g.70483900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483900G>A , CM000678.2:g.70483900G>A	GRCh38
NC_000016.9:g.70517803G>A , CM000678.1:g.70517803G>A	GRCh37
NC_000016.8:g.69075304G>A	NCBI36
NG_027529.1:g.44655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1856C>T	ENSP00000461912.2:n.*1856C>T
ENST00000703106.1:c.1825C>T	ENSP00000515173.1:n.1825C>T
ENST00000703107.1:c.*1709C>T	ENSP00000515174.1:n.*1709C>T
ENST00000703108.1:c.*228C>T	ENSP00000515175.1:n.*228C>T
ENST00000703109.1:c.1813C>T	ENSP00000515176.1:p.Leu605Phe
ENST00000703110.1:c.*1282C>T	ENSP00000515177.1:n.*1282C>T
ENST00000703111.1:n.1787C>T
ENST00000703112.1:n.2553C>T
ENST00000703113.1:c.*1193C>T	ENSP00000515178.1:n.*1193C>T
ENST00000703114.1:c.*429C>T	ENSP00000515179.1:n.*429C>T
ENST00000703115.1:c.893C>T	ENSP00000515180.1:n.893C>T
ENST00000323786.10:c.1780C>T MANE Select	ENSP00000315775.5:p.Leu594Phe
ENST00000564415.6:c.*1560C>T	ENSP00000456653.2:n.*1560C>T
ENST00000674443.1:c.1705C>T	ENSP00000501405.1:p.Leu569Phe
ENST00000323786.9:c.1780C>T	ENSP00000315775.5:p.Leu594Phe
ENST00000393612.8:c.1717C>T	ENSP00000377236.5:p.Leu573Phe
ENST00000482252.5:c.1927C>T	ENSP00000432802.1:n.1927C>T
ENST00000526700.5:n.956C>T
ENST00000530314.5:n.2459C>T
ENST00000564315.1:n.240C>T
ENST00000564415.5:c.*1560C>T	ENSP00000456653.1:n.*1560C>T
NM_001195139.1:c.1717C>T	NP_001182068.1:p.Leu573Phe
NM_015386.2:c.1780C>T	NP_056201.2:p.Leu594Phe
XM_011522981.1:c.1354C>T	XP_011521283.1:p.Leu452Phe
XR_933266.1:n.1726C>T
XR_933267.1:n.1726C>T
XM_011522981.3:c.1354C>T	XP_011521283.1:p.Leu452Phe
XM_024450224.1:c.799C>T	XP_024305992.1:p.Leu267Phe
XR_001751889.1:n.1663C>T
XR_933266.2:n.1726C>T
NM_015386.3:c.1780C>T MANE Select	NP_056201.2:p.Leu594Phe
NM_001195139.2:c.1705C>T	NP_001182068.2:p.Leu569Phe
NM_001365426.1:c.1354C>T	NP_001352355.1:p.Leu452Phe
NR_158212.1:n.1739C>T