Canonical Allele Identifier: CA396578067

Gene: COG4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2268T>C	ENSP00000461912.2:n.*2268T>C
ENST00000703106.1:c.2237T>C	ENSP00000515173.1:n.2237T>C
ENST00000703107.1:c.*2121T>C	ENSP00000515174.1:n.*2121T>C
ENST00000703108.1:c.*640T>C	ENSP00000515175.1:n.*640T>C
ENST00000703109.1:c.2225T>C	ENSP00000515176.1:p.Phe742Ser
ENST00000703110.1:c.*1694T>C	ENSP00000515177.1:n.*1694T>C
ENST00000703111.1:n.2475T>C
ENST00000703112.1:n.3136T>C
ENST00000703113.1:c.*1605T>C	ENSP00000515178.1:n.*1605T>C
ENST00000703114.1:c.*841T>C	ENSP00000515179.1:n.*841T>C
ENST00000703115.1:c.1305T>C	ENSP00000515180.1:n.1305T>C
ENST00000323786.10:c.2192T>C MANE Select	ENSP00000315775.5:p.Phe731Ser
ENST00000564415.6:c.*1972T>C	ENSP00000456653.2:n.*1972T>C
ENST00000674443.1:c.2117T>C	ENSP00000501405.1:p.Phe706Ser
ENST00000323786.9:c.2192T>C	ENSP00000315775.5:p.Phe731Ser
ENST00000393612.8:c.2129T>C	ENSP00000377236.5:p.Phe710Ser
ENST00000482252.5:c.2339T>C	ENSP00000432802.1:n.2339T>C
ENST00000526700.5:n.1368T>C
ENST00000530314.5:n.2871T>C
ENST00000564415.5:c.*1972T>C	ENSP00000456653.1:n.*1972T>C
ENST00000565715.1:c.254T>C	ENSP00000455693.1:p.Phe85Ser
NM_001195139.1:c.2129T>C	NP_001182068.1:p.Phe710Ser
NM_015386.2:c.2192T>C	NP_056201.2:p.Phe731Ser
XM_011522981.1:c.1766T>C	XP_011521283.1:p.Phe589Ser
XM_011522981.3:c.1766T>C	XP_011521283.1:p.Phe589Ser
XM_024450224.1:c.1211T>C	XP_024305992.1:p.Phe404Ser
XR_933266.2:n.2138T>C
NM_015386.3:c.2192T>C MANE Select	NP_056201.2:p.Phe731Ser
NM_001195139.2:c.2117T>C	NP_001182068.2:p.Phe706Ser
NM_001365426.1:c.1766T>C	NP_001352355.1:p.Phe589Ser
NR_158212.1:n.2151T>C