Canonical Allele Identifier: CA396578070

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515305A>C (hg19) ; chr16:g.70481402A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481402A>C , CM000678.2:g.70481402A>C	GRCh38
NC_000016.9:g.70515305A>C , CM000678.1:g.70515305A>C	GRCh37
NC_000016.8:g.69072806A>C	NCBI36
NG_027529.1:g.47153T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2268T>G	ENSP00000461912.2:n.*2268T>G
ENST00000703106.1:c.2237T>G	ENSP00000515173.1:n.2237T>G
ENST00000703107.1:c.*2121T>G	ENSP00000515174.1:n.*2121T>G
ENST00000703108.1:c.*640T>G	ENSP00000515175.1:n.*640T>G
ENST00000703109.1:c.2225T>G	ENSP00000515176.1:p.Phe742Cys
ENST00000703110.1:c.*1694T>G	ENSP00000515177.1:n.*1694T>G
ENST00000703111.1:n.2475T>G
ENST00000703112.1:n.3136T>G
ENST00000703113.1:c.*1605T>G	ENSP00000515178.1:n.*1605T>G
ENST00000703114.1:c.*841T>G	ENSP00000515179.1:n.*841T>G
ENST00000703115.1:c.1305T>G	ENSP00000515180.1:n.1305T>G
ENST00000323786.10:c.2192T>G MANE Select	ENSP00000315775.5:p.Phe731Cys
ENST00000564415.6:c.*1972T>G	ENSP00000456653.2:n.*1972T>G
ENST00000674443.1:c.2117T>G	ENSP00000501405.1:p.Phe706Cys
ENST00000323786.9:c.2192T>G	ENSP00000315775.5:p.Phe731Cys
ENST00000393612.8:c.2129T>G	ENSP00000377236.5:p.Phe710Cys
ENST00000482252.5:c.2339T>G	ENSP00000432802.1:n.2339T>G
ENST00000526700.5:n.1368T>G
ENST00000530314.5:n.2871T>G
ENST00000564415.5:c.*1972T>G	ENSP00000456653.1:n.*1972T>G
ENST00000565715.1:c.254T>G	ENSP00000455693.1:p.Phe85Cys
NM_001195139.1:c.2129T>G	NP_001182068.1:p.Phe710Cys
NM_015386.2:c.2192T>G	NP_056201.2:p.Phe731Cys
XM_011522981.1:c.1766T>G	XP_011521283.1:p.Phe589Cys
XM_011522981.3:c.1766T>G	XP_011521283.1:p.Phe589Cys
XM_024450224.1:c.1211T>G	XP_024305992.1:p.Phe404Cys
XR_933266.2:n.2138T>G
NM_015386.3:c.2192T>G MANE Select	NP_056201.2:p.Phe731Cys
NM_001195139.2:c.2117T>G	NP_001182068.2:p.Phe706Cys
NM_001365426.1:c.1766T>G	NP_001352355.1:p.Phe589Cys
NR_158212.1:n.2151T>G