Canonical Allele Identifier: CA2685255

Gene: IFT80 TRIM59-IFT80

Linked Data

• ClinVar Variation Id: 406217
• ClinVar RCV Id: RCV000465513 ; RCV000515813 ; RCV001803759 ; RCV003942476
• dbSNP Id: rs140202230
• ExAC: 3:160021761 T / C
• gnomAD v2: 3-160021761-T-C
• gnomAD v3: 3-160303973-T-C
• gnomAD v4: 3-160303973-T-C
• MyVariant Identifiers: chr3:g.160021761T>C (hg19) ; chr3:g.160303973T>C (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160303973T>C , CM000665.2:g.160303973T>C	GRCh38
NC_000003.11:g.160021761T>C , CM000665.1:g.160021761T>C	GRCh37
NC_000003.10:g.161504455T>C	NCBI36
NG_022932.1:g.100560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1093A>G (IFT80) MANE Select	ENSP00000312778.7:p.Thr365Ala
ENST00000326448.11:c.1093A>G (IFT80)	ENSP00000312778.7:p.Thr365Ala
ENST00000461213.1:n.524A>G (IFT80)
ENST00000472555.5:c.630A>G (IFT80)
ENST00000483325.1:c.136A>G (IFT80)	ENSP00000417552.1:p.Thr46Ala
ENST00000483465.5:c.682A>G (IFT80)	ENSP00000418196.1:p.Thr228Ala
ENST00000483754.1:c.1606A>G (TRIM59-IFT80)	ENSP00000456272.1:p.Thr536Ala
ENST00000487943.5:n.2312A>G (IFT80)
ENST00000496589.5:c.682A>G (IFT80)	ENSP00000420646.1:p.Thr228Ala
NM_001190241.1:c.682A>G (IFT80)	NP_001177170.1:p.Thr228Ala
NM_001190242.1:c.682A>G (IFT80)	NP_001177171.1:p.Thr228Ala
NM_020800.2:c.1093A>G (IFT80)	NP_065851.1:p.Thr365Ala
NR_148401.1:n.1801A>G (TRIM59-IFT80)
NR_148402.1:n.3337A>G (TRIM59-IFT80)
NR_148403.1:n.3604A>G (TRIM59-IFT80)
NM_020800.3:c.1093A>G (IFT80) MANE Select	NP_065851.1:p.Thr365Ala
NM_001190241.2:c.682A>G (IFT80)	NP_001177170.1:p.Thr228Ala
NM_001190242.2:c.682A>G (IFT80)	NP_001177171.1:p.Thr228Ala