Canonical Allele Identifier: CA114702
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI

Linked Data

ClinVar Variation Id: 989
ClinVar RCV Id: RCV000001044
dbSNP Id: rs137853115
MyVariant Identifiers: chr3:g.160095273G>C (hg19) chr3:g.160377485G>C (hg38)
PubMed: PMID:17468754 PMID:19610081
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160377485G>C , CM000665.2:g.160377485G>C GRCh38
NC_000003.11:g.160095273G>C , CM000665.1:g.160095273G>C GRCh37
NC_000003.10:g.161577967G>C NCBI36
NG_022932.1:g.27048C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326448.12:c.315C>G (IFT80) MANE Select ENSP00000312778.7:p.His105Gln
ENST00000326448.11:c.315C>G (IFT80) ENSP00000312778.7:p.His105Gln
ENST00000465537.5:c.-97C>G (IFT80) ENSP00000418602.1:n.-97C>G
ENST00000465972.5:n.520C>G (IFT80)
ENST00000468218.5:c.-97C>G (IFT80) ENSP00000417057.1:n.-97C>G
ENST00000468327.1:n.531C>G (IFT80)
ENST00000472773.5:n.439C>G (IFT80)
ENST00000475677.5:c.-97C>G (IFT80) ENSP00000419458.1:n.-97C>G
ENST00000477495.5:n.461C>G (IFT80)
ENST00000478370.5:c.-97C>G (IFT80) ENSP00000420758.1:n.-97C>G
ENST00000478460.5:n.132C>G (IFT80)
ENST00000482317.5:c.*52C>G (IFT80) ENSP00000418497.1:n.*52C>G
ENST00000483465.5:c.-97C>G (IFT80) ENSP00000418196.1:n.-97C>G
ENST00000483754.1:c.953-11333C>G (TRIM59-IFT80) ENSP00000456272.1:n.953-11333C>G
ENST00000486856.5:c.-97C>G (IFT80) ENSP00000417861.1:n.-97C>G
ENST00000487943.5:n.1644C>G (IFT80)
ENST00000489004.5:c.315C>G (IFT80) ENSP00000418455.1:p.His105Gln
ENST00000496589.5:c.-97C>G (IFT80) ENSP00000420646.1:n.-97C>G
ENST00000498409.5:c.315C>G (IFT80) ENSP00000420001.1:p.His105Gln
NM_001190241.1:c.-97C>G (IFT80) NP_001177170.1:n.-97C>G
NM_001190242.1:c.-97C>G (IFT80) NP_001177171.1:n.-97C>G
NM_020800.2:c.315C>G (IFT80) NP_065851.1:p.His105Gln
NR_148401.1:n.1148-11333C>G (TRIM59-IFT80)
NR_148402.1:n.2559C>G (TRIM59-IFT80)
NR_148403.1:n.2826C>G (TRIM59-IFT80)
NM_020800.3:c.315C>G (IFT80) MANE Select NP_065851.1:p.His105Gln
NM_001190241.2:c.-97C>G (IFT80) NP_001177170.1:n.-97C>G
NM_001190242.2:c.-97C>G (IFT80) NP_001177171.1:n.-97C>G
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