Canonical Allele Identifier: CA496228747

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517840A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483937A>G , CM000678.2:g.70483937A>G	GRCh38
NC_000016.9:g.70517840A>G , CM000678.1:g.70517840A>G	GRCh37
NC_000016.8:g.69075341A>G	NCBI36
NG_027529.1:g.44618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1819T>C	ENSP00000461912.2:n.*1819T>C
ENST00000703106.1:c.1788T>C	ENSP00000515173.1:n.1788T>C
ENST00000703107.1:c.*1672T>C	ENSP00000515174.1:n.*1672T>C
ENST00000703108.1:c.*191T>C	ENSP00000515175.1:n.*191T>C
ENST00000703109.1:c.1776T>C	ENSP00000515176.1:p.Ile592=
ENST00000703110.1:c.*1245T>C	ENSP00000515177.1:n.*1245T>C
ENST00000703111.1:n.1750T>C
ENST00000703112.1:n.2516T>C
ENST00000703113.1:c.*1156T>C	ENSP00000515178.1:n.*1156T>C
ENST00000703114.1:c.*392T>C	ENSP00000515179.1:n.*392T>C
ENST00000703115.1:c.856T>C	ENSP00000515180.1:n.856T>C
ENST00000323786.10:c.1743T>C MANE Select	ENSP00000315775.5:p.Ile581=
ENST00000564415.6:c.*1523T>C	ENSP00000456653.2:n.*1523T>C
ENST00000674443.1:c.1668T>C	ENSP00000501405.1:p.Ile556=
ENST00000323786.9:c.1743T>C	ENSP00000315775.5:p.Ile581=
ENST00000393612.8:c.1680T>C	ENSP00000377236.5:p.Ile560=
ENST00000482252.5:c.1890T>C	ENSP00000432802.1:n.1890T>C
ENST00000526700.5:n.919T>C
ENST00000530314.5:n.2422T>C
ENST00000564315.1:n.203T>C
ENST00000564415.5:c.*1523T>C	ENSP00000456653.1:n.*1523T>C
NM_001195139.1:c.1680T>C	NP_001182068.1:p.Ile560=
NM_015386.2:c.1743T>C	NP_056201.2:p.Ile581=
XM_011522981.1:c.1317T>C	XP_011521283.1:p.Ile439=
XR_933266.1:n.1689T>C
XR_933267.1:n.1689T>C
XM_011522981.3:c.1317T>C	XP_011521283.1:p.Ile439=
XM_024450224.1:c.762T>C	XP_024305992.1:p.Ile254=
XR_001751889.1:n.1626T>C
XR_933266.2:n.1689T>C
NM_015386.3:c.1743T>C MANE Select	NP_056201.2:p.Ile581=
NM_001195139.2:c.1668T>C	NP_001182068.2:p.Ile556=
NM_001365426.1:c.1317T>C	NP_001352355.1:p.Ile439=
NR_158212.1:n.1702T>C