Canonical Allele Identifier: CA396580622

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517778T>A (hg19) ; chr16:g.70483875T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483875T>A , CM000678.2:g.70483875T>A	GRCh38
NC_000016.9:g.70517778T>A , CM000678.1:g.70517778T>A	GRCh37
NC_000016.8:g.69075279T>A	NCBI36
NG_027529.1:g.44680A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1881A>T	ENSP00000461912.2:n.*1881A>T
ENST00000703106.1:c.1850A>T	ENSP00000515173.1:n.1850A>T
ENST00000703107.1:c.*1734A>T	ENSP00000515174.1:n.*1734A>T
ENST00000703108.1:c.*253A>T	ENSP00000515175.1:n.*253A>T
ENST00000703109.1:c.1838A>T	ENSP00000515176.1:p.Asn613Ile
ENST00000703110.1:c.*1307A>T	ENSP00000515177.1:n.*1307A>T
ENST00000703111.1:n.1812A>T
ENST00000703112.1:n.2578A>T
ENST00000703113.1:c.*1218A>T	ENSP00000515178.1:n.*1218A>T
ENST00000703114.1:c.*454A>T	ENSP00000515179.1:n.*454A>T
ENST00000703115.1:c.918A>T	ENSP00000515180.1:n.918A>T
ENST00000323786.10:c.1805A>T MANE Select	ENSP00000315775.5:p.Asn602Ile
ENST00000564415.6:c.*1585A>T	ENSP00000456653.2:n.*1585A>T
ENST00000674443.1:c.1730A>T	ENSP00000501405.1:p.Asn577Ile
ENST00000323786.9:c.1805A>T	ENSP00000315775.5:p.Asn602Ile
ENST00000393612.8:c.1742A>T	ENSP00000377236.5:p.Asn581Ile
ENST00000482252.5:c.1952A>T	ENSP00000432802.1:n.1952A>T
ENST00000526700.5:n.981A>T
ENST00000530314.5:n.2484A>T
ENST00000564315.1:n.265A>T
ENST00000564415.5:c.*1585A>T	ENSP00000456653.1:n.*1585A>T
NM_001195139.1:c.1742A>T	NP_001182068.1:p.Asn581Ile
NM_015386.2:c.1805A>T	NP_056201.2:p.Asn602Ile
XM_011522981.1:c.1379A>T	XP_011521283.1:p.Asn460Ile
XR_933266.1:n.1751A>T
XR_933267.1:n.1751A>T
XM_011522981.3:c.1379A>T	XP_011521283.1:p.Asn460Ile
XM_024450224.1:c.824A>T	XP_024305992.1:p.Asn275Ile
XR_001751889.1:n.1688A>T
XR_933266.2:n.1751A>T
NM_015386.3:c.1805A>T MANE Select	NP_056201.2:p.Asn602Ile
NM_001195139.2:c.1730A>T	NP_001182068.2:p.Asn577Ile
NM_001365426.1:c.1379A>T	NP_001352355.1:p.Asn460Ile
NR_158212.1:n.1764A>T