Canonical Allele Identifier: CA396580706

Gene: COG4

Linked Data

• gnomAD v4: 16-70483912-A-G
• MyVariant Identifiers: chr16:g.70517815A>G (hg19) ; chr16:g.70483912A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483912A>G , CM000678.2:g.70483912A>G	GRCh38
NC_000016.9:g.70517815A>G , CM000678.1:g.70517815A>G	GRCh37
NC_000016.8:g.69075316A>G	NCBI36
NG_027529.1:g.44643T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1844T>C	ENSP00000461912.2:n.*1844T>C
ENST00000703106.1:c.1813T>C	ENSP00000515173.1:n.1813T>C
ENST00000703107.1:c.*1697T>C	ENSP00000515174.1:n.*1697T>C
ENST00000703108.1:c.*216T>C	ENSP00000515175.1:n.*216T>C
ENST00000703109.1:c.1801T>C	ENSP00000515176.1:p.Phe601Leu
ENST00000703110.1:c.*1270T>C	ENSP00000515177.1:n.*1270T>C
ENST00000703111.1:n.1775T>C
ENST00000703112.1:n.2541T>C
ENST00000703113.1:c.*1181T>C	ENSP00000515178.1:n.*1181T>C
ENST00000703114.1:c.*417T>C	ENSP00000515179.1:n.*417T>C
ENST00000703115.1:c.881T>C	ENSP00000515180.1:n.881T>C
ENST00000323786.10:c.1768T>C MANE Select	ENSP00000315775.5:p.Phe590Leu
ENST00000564415.6:c.*1548T>C	ENSP00000456653.2:n.*1548T>C
ENST00000674443.1:c.1693T>C	ENSP00000501405.1:p.Phe565Leu
ENST00000323786.9:c.1768T>C	ENSP00000315775.5:p.Phe590Leu
ENST00000393612.8:c.1705T>C	ENSP00000377236.5:p.Phe569Leu
ENST00000482252.5:c.1915T>C	ENSP00000432802.1:n.1915T>C
ENST00000526700.5:n.944T>C
ENST00000530314.5:n.2447T>C
ENST00000564315.1:n.228T>C
ENST00000564415.5:c.*1548T>C	ENSP00000456653.1:n.*1548T>C
NM_001195139.1:c.1705T>C	NP_001182068.1:p.Phe569Leu
NM_015386.2:c.1768T>C	NP_056201.2:p.Phe590Leu
XM_011522981.1:c.1342T>C	XP_011521283.1:p.Phe448Leu
XR_933266.1:n.1714T>C
XR_933267.1:n.1714T>C
XM_011522981.3:c.1342T>C	XP_011521283.1:p.Phe448Leu
XM_024450224.1:c.787T>C	XP_024305992.1:p.Phe263Leu
XR_001751889.1:n.1651T>C
XR_933266.2:n.1714T>C
NM_015386.3:c.1768T>C MANE Select	NP_056201.2:p.Phe590Leu
NM_001195139.2:c.1693T>C	NP_001182068.2:p.Phe565Leu
NM_001365426.1:c.1342T>C	NP_001352355.1:p.Phe448Leu
NR_158212.1:n.1727T>C