Canonical Allele Identifier: CA2685070
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI
C3orf80 HGNC NCBI
ClinVar RCV:
RCV000336393
RCV001001024
RCV004021897
ClinVar Variation:
343967
dbSNP:
202145480
gnomAD v2:
3:159997139 T / C
gnomAD v3:
3:160279351 T / C
gnomAD v4:
chr3-160279351-T-C
Joint Max Group AF 0.00013368 (MID)
Exomes Max Group AF 0.00014146 (MID)
MyVariant.info:
GRCh38 chr3:g.160279351T>C
GRCh37 chr3:g.159997139T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160279351T>C , CM000665.2:g.160279351T>C GRCh38
NC_000003.11:g.159997139T>C , CM000665.1:g.159997139T>C GRCh37
NC_000003.10:g.161479833T>C NCBI36
NG_022932.1:g.125182A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326448.12:c.1678A>G (IFT80) MANE Select ENSP00000312778.7:p.Asn560Asp
ENST00000326448.11:c.1678A>G (IFT80) ENSP00000312778.7:p.Asn560Asp
ENST00000483465.5:c.1267A>G (IFT80) ENSP00000418196.1:p.Asn423Asp
ENST00000483754.1:c.2191A>G (TRIM59-IFT80) ENSP00000456272.1:p.Asn731Asp
ENST00000487943.5:n.2897A>G (IFT80)
ENST00000496589.5:c.1267A>G (IFT80) ENSP00000420646.1:p.Asn423Asp
NM_001190241.1:c.1267A>G (IFT80) NP_001177170.1:p.Asn423Asp
NM_001190242.1:c.1267A>G (IFT80) NP_001177171.1:p.Asn423Asp
NM_020800.2:c.1678A>G (IFT80) NP_065851.1:p.Asn560Asp
XR_924137.1:n.2945-1756T>C (C3orf80)
XR_924138.1:n.2900-10321T>C (C3orf80)
NR_148401.1:n.2386A>G (TRIM59-IFT80)
NR_148402.1:n.3922A>G (TRIM59-IFT80)
NR_148403.1:n.4189A>G (TRIM59-IFT80)
NM_020800.3:c.1678A>G (IFT80) MANE Select NP_065851.1:p.Asn560Asp
NM_001190241.2:c.1267A>G (IFT80) NP_001177170.1:p.Asn423Asp
NM_001190242.2:c.1267A>G (IFT80) NP_001177171.1:p.Asn423Asp
Search 100 bp 5'
Search 100 bp 3'