Canonical Allele Identifier: CA2521802

Gene: CEP97

Linked Data

• ClinVar Variation Id: 2061223
• ClinVar RCV Id: RCV002942561 ; RCV004067258
• dbSNP Id: rs201833020
• ExAC: 3:101445511 C / G
• gnomAD v2: 3-101445511-C-G
• gnomAD v3: 3-101726667-C-G
• gnomAD v4: 3-101726667-C-G
• MyVariant Identifiers: chr3:g.101445511C>G (hg19) ; chr3:g.101726667C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101726667C>G , CM000665.2:g.101726667C>G	GRCh38
NC_000003.11:g.101445511C>G , CM000665.1:g.101445511C>G	GRCh37
NC_000003.10:g.102928201C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.117C>G	ENSP00000419009.1:p.His39Gln
ENST00000467655.2:c.117C>G	ENSP00000418547.2:p.His39Gln
ENST00000704365.1:c.117C>G	ENSP00000515873.1:p.His39Gln
ENST00000704366.1:c.117C>G	ENSP00000515874.1:p.His39Gln
ENST00000704367.1:c.117C>G	ENSP00000515875.1:p.His39Gln
ENST00000704368.1:n.173C>G
ENST00000704369.1:c.-40+1948C>G	ENSP00000515876.1:n.-40+1948C>G
ENST00000704370.1:c.111C>G	ENSP00000515877.1:p.His37Gln
ENST00000704371.1:n.108C>G
ENST00000704444.1:c.-100C>G	ENSP00000515896.1:n.-100C>G
ENST00000704445.1:c.-254C>G	ENSP00000515897.1:n.-254C>G
ENST00000704446.1:c.138C>G	ENSP00000515898.1:p.His46Gln
ENST00000341893.8:c.117C>G MANE Select	ENSP00000342510.3:p.His39Gln
ENST00000341893.7:c.117C>G	ENSP00000342510.3:p.His39Gln
ENST00000465011.1:c.117C>G	ENSP00000419009.1:p.His39Gln
ENST00000489172.5:n.201C>G
ENST00000494050.5:c.117C>G	ENSP00000418185.1:p.His39Gln
NM_001303401.1:c.117C>G	NP_001290330.1:p.His39Gln
NM_024548.3:c.117C>G	NP_078824.2:p.His39Gln
XM_006713743.2:c.117C>G	XP_006713806.1:p.His39Gln
XM_011513125.1:c.-100C>G	XP_011511427.1:n.-100C>G
XM_011513126.1:c.-100C>G	XP_011511428.1:n.-100C>G
XM_011513127.1:c.-254C>G	XP_011511429.1:n.-254C>G
XM_006713743.4:c.117C>G	XP_006713806.1:p.His39Gln
XM_017007178.2:c.117C>G	XP_016862667.1:p.His39Gln
NM_024548.4:c.117C>G MANE Select	NP_078824.2:p.His39Gln
NM_001303401.2:c.117C>G	NP_001290330.1:p.His39Gln