Canonical Allele Identifier: CA496228730

Gene: COG4

Linked Data

• dbSNP Id: rs1246807111
• MyVariant Identifiers: chr16:g.70517825G>A (hg19) ; chr16:g.70483922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483922G>A , CM000678.2:g.70483922G>A	GRCh38
NC_000016.9:g.70517825G>A , CM000678.1:g.70517825G>A	GRCh37
NC_000016.8:g.69075326G>A	NCBI36
NG_027529.1:g.44633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1834C>T	ENSP00000461912.2:n.*1834C>T
ENST00000703106.1:c.1803C>T	ENSP00000515173.1:n.1803C>T
ENST00000703107.1:c.*1687C>T	ENSP00000515174.1:n.*1687C>T
ENST00000703108.1:c.*206C>T	ENSP00000515175.1:n.*206C>T
ENST00000703109.1:c.1791C>T	ENSP00000515176.1:p.Ala597=
ENST00000703110.1:c.*1260C>T	ENSP00000515177.1:n.*1260C>T
ENST00000703111.1:n.1765C>T
ENST00000703112.1:n.2531C>T
ENST00000703113.1:c.*1171C>T	ENSP00000515178.1:n.*1171C>T
ENST00000703114.1:c.*407C>T	ENSP00000515179.1:n.*407C>T
ENST00000703115.1:c.871C>T	ENSP00000515180.1:n.871C>T
ENST00000323786.10:c.1758C>T MANE Select	ENSP00000315775.5:p.Ala586=
ENST00000564415.6:c.*1538C>T	ENSP00000456653.2:n.*1538C>T
ENST00000674443.1:c.1683C>T	ENSP00000501405.1:p.Ala561=
ENST00000323786.9:c.1758C>T	ENSP00000315775.5:p.Ala586=
ENST00000393612.8:c.1695C>T	ENSP00000377236.5:p.Ala565=
ENST00000482252.5:c.1905C>T	ENSP00000432802.1:n.1905C>T
ENST00000526700.5:n.934C>T
ENST00000530314.5:n.2437C>T
ENST00000564315.1:n.218C>T
ENST00000564415.5:c.*1538C>T	ENSP00000456653.1:n.*1538C>T
NM_001195139.1:c.1695C>T	NP_001182068.1:p.Ala565=
NM_015386.2:c.1758C>T	NP_056201.2:p.Ala586=
XM_011522981.1:c.1332C>T	XP_011521283.1:p.Ala444=
XR_933266.1:n.1704C>T
XR_933267.1:n.1704C>T
XM_011522981.3:c.1332C>T	XP_011521283.1:p.Ala444=
XM_024450224.1:c.777C>T	XP_024305992.1:p.Ala259=
XR_001751889.1:n.1641C>T
XR_933266.2:n.1704C>T
NM_015386.3:c.1758C>T MANE Select	NP_056201.2:p.Ala586=
NM_001195139.2:c.1683C>T	NP_001182068.2:p.Ala561=
NM_001365426.1:c.1332C>T	NP_001352355.1:p.Ala444=
NR_158212.1:n.1717C>T