Canonical Allele Identifier: CA434728230

Gene: CEP97

Linked Data

• dbSNP Id: rs1576698213
• gnomAD v3: 3-101757755-C-T
• gnomAD v4: 3-101757755-C-T
• MyVariant Identifiers: chr3:g.101476599C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757755C>T , CM000665.2:g.101757755C>T	GRCh38
NC_000003.11:g.101476599C>T , CM000665.1:g.101476599C>T	GRCh37
NC_000003.10:g.102959289C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*784C>T	ENSP00000419009.1:n.*784C>T
ENST00000467655.2:c.*236C>T	ENSP00000418547.2:n.*236C>T
ENST00000704365.1:c.1149C>T	ENSP00000515873.1:p.His383=
ENST00000704366.1:c.1047C>T	ENSP00000515874.1:p.His349=
ENST00000704367.1:c.926-56C>T	ENSP00000515875.1:n.926-56C>T
ENST00000704368.1:n.1642C>T
ENST00000704369.1:c.663C>T	ENSP00000515876.1:p.His221=
ENST00000704370.1:c.1143C>T	ENSP00000515877.1:p.His381=
ENST00000704372.1:n.1503C>T
ENST00000704444.1:c.933C>T	ENSP00000515896.1:p.His311=
ENST00000704445.1:c.801C>T	ENSP00000515897.1:p.His267=
ENST00000704446.1:c.1048+559C>T	ENSP00000515898.1:n.1048+559C>T
ENST00000341893.8:c.1149C>T MANE Select	ENSP00000342510.3:p.His383=
ENST00000341893.7:c.1149C>T	ENSP00000342510.3:p.His383=
ENST00000467655.1:c.764C>T	ENSP00000418547.1:n.764C>T
ENST00000489172.5:n.1131C>T
ENST00000494050.5:c.1028-56C>T	ENSP00000418185.1:n.1028-56C>T
NM_001303401.1:c.1028-56C>T	NP_001290330.1:n.1028-56C>T
NM_024548.3:c.1149C>T	NP_078824.2:p.His383=
XM_006713743.2:c.1047C>T	XP_006713806.1:p.His349=
XM_011513125.1:c.933C>T	XP_011511427.1:p.His311=
XM_011513126.1:c.933C>T	XP_011511428.1:p.His311=
XM_011513127.1:c.801C>T	XP_011511429.1:p.His267=
XM_006713743.4:c.1047C>T	XP_006713806.1:p.His349=
XM_017007178.2:c.926-56C>T	XP_016862667.1:n.926-56C>T
NM_024548.4:c.1149C>T MANE Select	NP_078824.2:p.His383=
NM_001303401.2:c.1028-56C>T	NP_001290330.1:n.1028-56C>T