Canonical Allele Identifier: CA114705
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI
C3orf80 HGNC NCBI
ClinVar RCV:
RCV000001046
RCV002512630
ClinVar Variation:
991
dbSNP:
137853116
gnomAD v2:
3:159986323 C / G
gnomAD v3:
3:160268535 C / G
gnomAD v4:
chr3-160268535-C-G
Joint Max Group AF 0.00026502 (SAS)
Genomes Max Group AF 0.0002836 (SAS)
Exomes Max Group AF 0.00024032 (SAS)
MyVariant.info:
GRCh38 chr3:g.160268535C>G
GRCh37 chr3:g.159986323C>G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160268535C>G , CM000665.2:g.160268535C>G GRCh38
NC_000003.11:g.159986323C>G , CM000665.1:g.159986323C>G GRCh37
NC_000003.10:g.161469017C>G NCBI36
NG_022932.1:g.135998G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326448.12:c.2101G>C (IFT80) MANE Select ENSP00000312778.7:p.Ala701Pro
ENST00000326448.11:c.2101G>C (IFT80) ENSP00000312778.7:p.Ala701Pro
ENST00000463240.1:n.249G>C (IFT80)
ENST00000478278.1:n.227G>C (IFT80)
ENST00000483465.5:c.1690G>C (IFT80) ENSP00000418196.1:p.Ala564Pro
ENST00000483754.1:c.2614G>C (TRIM59-IFT80) ENSP00000456272.1:p.Ala872Pro
ENST00000487943.5:n.3320G>C (IFT80)
ENST00000496589.5:c.1690G>C (IFT80) ENSP00000420646.1:p.Ala564Pro
NM_001190241.1:c.1690G>C (IFT80) NP_001177170.1:p.Ala564Pro
NM_001190242.1:c.1690G>C (IFT80) NP_001177171.1:p.Ala564Pro
NM_020800.2:c.2101G>C (IFT80) NP_065851.1:p.Ala701Pro
XR_924137.1:n.2944+7621C>G (C3orf80)
XR_924138.1:n.2900-21137C>G (C3orf80)
NR_148401.1:n.2809G>C (TRIM59-IFT80)
NR_148402.1:n.4345G>C (TRIM59-IFT80)
NR_148403.1:n.4612G>C (TRIM59-IFT80)
NM_020800.3:c.2101G>C (IFT80) MANE Select NP_065851.1:p.Ala701Pro
NM_001190241.2:c.1690G>C (IFT80) NP_001177170.1:p.Ala564Pro
NM_001190242.2:c.1690G>C (IFT80) NP_001177171.1:p.Ala564Pro
Search 100 bp 5'
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