Canonical Allele Identifier: CA16604487
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI
C3orf80 HGNC NCBI

Linked Data

ClinVar Variation Id: 390611
ClinVar RCV Id: RCV000418165
dbSNP Id: rs1057523840
MyVariant Identifiers: chr3:g.160000376T>C (hg19) chr3:g.160282588T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160282588T>C , CM000665.2:g.160282588T>C GRCh38
NC_000003.11:g.160000376T>C , CM000665.1:g.160000376T>C GRCh37
NC_000003.10:g.161483070T>C NCBI36
NG_022932.1:g.121945A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326448.12:c.1406A>G (IFT80) MANE Select ENSP00000312778.7:p.Asp469Gly
ENST00000326448.11:c.1406A>G (IFT80) ENSP00000312778.7:p.Asp469Gly
ENST00000483465.5:c.995A>G (IFT80) ENSP00000418196.1:p.Asp332Gly
ENST00000483754.1:c.1919A>G (TRIM59-IFT80) ENSP00000456272.1:p.Asp640Gly
ENST00000487943.5:n.2625A>G (IFT80)
ENST00000496589.5:c.995A>G (IFT80) ENSP00000420646.1:p.Asp332Gly
NM_001190241.1:c.995A>G (IFT80) NP_001177170.1:p.Asp332Gly
NM_001190242.1:c.995A>G (IFT80) NP_001177171.1:p.Asp332Gly
NM_020800.2:c.1406A>G (IFT80) NP_065851.1:p.Asp469Gly
XR_924138.1:n.2900-7084T>C (C3orf80)
NR_148401.1:n.2114A>G (TRIM59-IFT80)
NR_148402.1:n.3650A>G (TRIM59-IFT80)
NR_148403.1:n.3917A>G (TRIM59-IFT80)
NM_020800.3:c.1406A>G (IFT80) MANE Select NP_065851.1:p.Asp469Gly
NM_001190241.2:c.995A>G (IFT80) NP_001177170.1:p.Asp332Gly
NM_001190242.2:c.995A>G (IFT80) NP_001177171.1:p.Asp332Gly
Search 100 bp 5'
Search 100 bp 3'