Canonical Allele Identifier: CA2522254

Gene: CEP97

Linked Data

• ClinVar Variation Id: 2966977
• ClinVar RCV Id: RCV003829111
• dbSNP Id: rs535155685
• ExAC: 3:101483791 A / G
• gnomAD v2: 3-101483791-A-G
• gnomAD v3: 3-101764947-A-G
• gnomAD v4: 3-101764947-A-G
• MyVariant Identifiers: chr3:g.101483791A>G (hg19) ; chr3:g.101764947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101764947A>G , CM000665.2:g.101764947A>G	GRCh38
NC_000003.11:g.101483791A>G , CM000665.1:g.101483791A>G	GRCh37
NC_000003.10:g.102966481A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1629A>G	ENSP00000419009.1:n.*1629A>G
ENST00000467655.2:c.*1159A>G	ENSP00000418547.2:n.*1159A>G
ENST00000704365.1:c.2072A>G	ENSP00000515873.1:p.His691Arg
ENST00000704366.1:c.1892A>G	ENSP00000515874.1:p.His631Arg
ENST00000704367.1:c.1715A>G	ENSP00000515875.1:p.His572Arg
ENST00000704368.1:n.2487A>G
ENST00000704369.1:c.1508A>G	ENSP00000515876.1:p.His503Arg
ENST00000704370.1:c.1988A>G	ENSP00000515877.1:p.His663Arg
ENST00000704372.1:n.2348A>G
ENST00000704444.1:c.1778A>G	ENSP00000515896.1:p.His593Arg
ENST00000704445.1:c.1646A>G	ENSP00000515897.1:p.His549Arg
ENST00000704446.1:c.1049-1502A>G	ENSP00000515898.1:n.1049-1502A>G
ENST00000341893.8:c.1994A>G MANE Select	ENSP00000342510.3:p.His665Arg
ENST00000341893.7:c.1994A>G	ENSP00000342510.3:p.His665Arg
ENST00000467655.1:c.1687A>G	ENSP00000418547.1:n.1687A>G
ENST00000494050.5:c.1817A>G	ENSP00000418185.1:p.His606Arg
NM_001303401.1:c.1817A>G	NP_001290330.1:p.His606Arg
NM_024548.3:c.1994A>G	NP_078824.2:p.His665Arg
XM_006713743.2:c.1892A>G	XP_006713806.1:p.His631Arg
XM_011513125.1:c.1778A>G	XP_011511427.1:p.His593Arg
XM_011513126.1:c.1778A>G	XP_011511428.1:p.His593Arg
XM_011513127.1:c.1646A>G	XP_011511429.1:p.His549Arg
XM_006713743.4:c.1892A>G	XP_006713806.1:p.His631Arg
XM_017007178.2:c.1715A>G	XP_016862667.1:p.His572Arg
NM_024548.4:c.1994A>G MANE Select	NP_078824.2:p.His665Arg
NM_001303401.2:c.1817A>G	NP_001290330.1:p.His606Arg