Canonical Allele Identifier: CA396580607

Gene: COG4

Linked Data

• COSMIC: COSM1379310
• MyVariant Identifiers: chr16:g.70517772A>G (hg19) ; chr16:g.70483869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483869A>G , CM000678.2:g.70483869A>G	GRCh38
NC_000016.9:g.70517772A>G , CM000678.1:g.70517772A>G	GRCh37
NC_000016.8:g.69075273A>G	NCBI36
NG_027529.1:g.44686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1887T>C	ENSP00000461912.2:n.*1887T>C
ENST00000703106.1:c.1856T>C	ENSP00000515173.1:n.1856T>C
ENST00000703107.1:c.*1740T>C	ENSP00000515174.1:n.*1740T>C
ENST00000703108.1:c.*259T>C	ENSP00000515175.1:n.*259T>C
ENST00000703109.1:c.1844T>C	ENSP00000515176.1:p.Phe615Ser
ENST00000703110.1:c.*1313T>C	ENSP00000515177.1:n.*1313T>C
ENST00000703111.1:n.1818T>C
ENST00000703112.1:n.2584T>C
ENST00000703113.1:c.*1224T>C	ENSP00000515178.1:n.*1224T>C
ENST00000703114.1:c.*460T>C	ENSP00000515179.1:n.*460T>C
ENST00000703115.1:c.924T>C	ENSP00000515180.1:n.924T>C
ENST00000323786.10:c.1811T>C MANE Select	ENSP00000315775.5:p.Phe604Ser
ENST00000564415.6:c.*1591T>C	ENSP00000456653.2:n.*1591T>C
ENST00000674443.1:c.1736T>C	ENSP00000501405.1:p.Phe579Ser
ENST00000323786.9:c.1811T>C	ENSP00000315775.5:p.Phe604Ser
ENST00000393612.8:c.1748T>C	ENSP00000377236.5:p.Phe583Ser
ENST00000482252.5:c.1958T>C	ENSP00000432802.1:n.1958T>C
ENST00000526700.5:n.987T>C
ENST00000530314.5:n.2490T>C
ENST00000564315.1:n.271T>C
ENST00000564415.5:c.*1591T>C	ENSP00000456653.1:n.*1591T>C
NM_001195139.1:c.1748T>C	NP_001182068.1:p.Phe583Ser
NM_015386.2:c.1811T>C	NP_056201.2:p.Phe604Ser
XM_011522981.1:c.1385T>C	XP_011521283.1:p.Phe462Ser
XR_933266.1:n.1757T>C
XR_933267.1:n.1757T>C
XM_011522981.3:c.1385T>C	XP_011521283.1:p.Phe462Ser
XM_024450224.1:c.830T>C	XP_024305992.1:p.Phe277Ser
XR_001751889.1:n.1694T>C
XR_933266.2:n.1757T>C
NM_015386.3:c.1811T>C MANE Select	NP_056201.2:p.Phe604Ser
NM_001195139.2:c.1736T>C	NP_001182068.2:p.Phe579Ser
NM_001365426.1:c.1385T>C	NP_001352355.1:p.Phe462Ser
NR_158212.1:n.1770T>C