Canonical Allele Identifier: CA2684949
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI
C3orf80 HGNC NCBI
ClinVar RCV:
RCV000593105
RCV000764474
RCV001085371
ClinVar Variation:
501586
COSMIC:
COSM4602152
dbSNP:
201820395
gnomAD v2:
3:159986266 G / T
gnomAD v3:
3:160268478 G / T
gnomAD v4:
chr3-160268478-G-T
Joint Max Group AF 0.00041626 (AMR)
Genomes Max Group AF 0.00030657 (AMR)
Exomes Max Group AF 0.000388 (AMR)
MyVariant.info:
GRCh38 chr3:g.160268478G>T
GRCh37 chr3:g.159986266G>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160268478G>T , CM000665.2:g.160268478G>T GRCh38
NC_000003.11:g.159986266G>T , CM000665.1:g.159986266G>T GRCh37
NC_000003.10:g.161468960G>T NCBI36
NG_022932.1:g.136055C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326448.12:c.2158C>A (IFT80) MANE Select ENSP00000312778.7:p.Gln720Lys
ENST00000326448.11:c.2158C>A (IFT80) ENSP00000312778.7:p.Gln720Lys
ENST00000463240.1:n.306C>A (IFT80)
ENST00000478278.1:n.284C>A (IFT80)
ENST00000483465.5:c.1747C>A (IFT80) ENSP00000418196.1:p.Gln583Lys
ENST00000483754.1:c.2671C>A (TRIM59-IFT80) ENSP00000456272.1:p.Gln891Lys
ENST00000487943.5:n.3377C>A (IFT80)
ENST00000496589.5:c.1747C>A (IFT80) ENSP00000420646.1:p.Gln583Lys
NM_001190241.1:c.1747C>A (IFT80) NP_001177170.1:p.Gln583Lys
NM_001190242.1:c.1747C>A (IFT80) NP_001177171.1:p.Gln583Lys
NM_020800.2:c.2158C>A (IFT80) NP_065851.1:p.Gln720Lys
XR_924137.1:n.2944+7564G>T (C3orf80)
XR_924138.1:n.2900-21194G>T (C3orf80)
NR_148401.1:n.2866C>A (TRIM59-IFT80)
NR_148402.1:n.4402C>A (TRIM59-IFT80)
NR_148403.1:n.4669C>A (TRIM59-IFT80)
NM_020800.3:c.2158C>A (IFT80) MANE Select NP_065851.1:p.Gln720Lys
NM_001190241.2:c.1747C>A (IFT80) NP_001177170.1:p.Gln583Lys
NM_001190242.2:c.1747C>A (IFT80) NP_001177171.1:p.Gln583Lys
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