Canonical Allele Identifier: CA2521790

Gene: CEP97

Linked Data

• ClinVar Variation Id: 1988268
• ClinVar RCV Id: RCV002781218
• dbSNP Id: rs112981951
• ExAC: 3:101445425 G / A
• gnomAD v2: 3-101445425-G-A
• gnomAD v3: 3-101726581-G-A
• gnomAD v4: 3-101726581-G-A
• MyVariant Identifiers: chr3:g.101445425G>A (hg19) ; chr3:g.101726581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101726581G>A , CM000665.2:g.101726581G>A	GRCh38
NC_000003.11:g.101445425G>A , CM000665.1:g.101445425G>A	GRCh37
NC_000003.10:g.102928115G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.44-13G>A	ENSP00000419009.1:n.44-13G>A
ENST00000467655.2:c.44-13G>A	ENSP00000418547.2:n.44-13G>A
ENST00000704365.1:c.44-13G>A	ENSP00000515873.1:n.44-13G>A
ENST00000704366.1:c.44-13G>A	ENSP00000515874.1:n.44-13G>A
ENST00000704367.1:c.44-13G>A	ENSP00000515875.1:n.44-13G>A
ENST00000704368.1:n.100-13G>A
ENST00000704369.1:c.-40+1862G>A	ENSP00000515876.1:n.-40+1862G>A
ENST00000704370.1:c.44-19G>A	ENSP00000515877.1:n.44-19G>A
ENST00000704371.1:n.35-13G>A
ENST00000704444.1:c.-173-13G>A	ENSP00000515896.1:n.-173-13G>A
ENST00000704445.1:c.-340G>A	ENSP00000515897.1:n.-340G>A
ENST00000704446.1:c.52G>A	ENSP00000515898.1:p.Val18Ile
ENST00000341893.8:c.44-13G>A MANE Select	ENSP00000342510.3:n.44-13G>A
ENST00000341893.7:c.44-13G>A	ENSP00000342510.3:n.44-13G>A
ENST00000465011.1:c.44-13G>A	ENSP00000419009.1:n.44-13G>A
ENST00000489172.5:n.128-13G>A
ENST00000494050.5:c.44-13G>A	ENSP00000418185.1:n.44-13G>A
NM_001303401.1:c.44-13G>A	NP_001290330.1:n.44-13G>A
NM_024548.3:c.44-13G>A	NP_078824.2:n.44-13G>A
XM_006713743.2:c.44-13G>A	XP_006713806.1:n.44-13G>A
XM_011513125.1:c.-173-13G>A	XP_011511427.1:n.-173-13G>A
XM_011513126.1:c.-173-13G>A	XP_011511428.1:n.-173-13G>A
XM_011513127.1:c.-327-13G>A	XP_011511429.1:n.-327-13G>A
XM_006713743.4:c.44-13G>A	XP_006713806.1:n.44-13G>A
XM_017007178.2:c.44-13G>A	XP_016862667.1:n.44-13G>A
NM_024548.4:c.44-13G>A MANE Select	NP_078824.2:n.44-13G>A
NM_001303401.2:c.44-13G>A	NP_001290330.1:n.44-13G>A