Canonical Allele Identifier: CA355192065

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• ClinVar Variation Id: 1941741
• ClinVar RCV Id: RCV002675703 ; RCV004066751
• dbSNP Id: rs1445517798
• gnomAD v2: 3-160000298-C-T
• gnomAD v3: 3-160282510-C-T
• gnomAD v4: 3-160282510-C-T
• COSMIC: COSM3006006
• MyVariant Identifiers: chr3:g.160000298C>T (hg19) ; chr3:g.160282510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282510C>T , CM000665.2:g.160282510C>T	GRCh38
NC_000003.11:g.160000298C>T , CM000665.1:g.160000298C>T	GRCh37
NC_000003.10:g.161482992C>T	NCBI36
NG_022932.1:g.122023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1484G>A (IFT80) MANE Select	ENSP00000312778.7:p.Arg495Gln
ENST00000326448.11:c.1484G>A (IFT80)	ENSP00000312778.7:p.Arg495Gln
ENST00000483465.5:c.1073G>A (IFT80)	ENSP00000418196.1:p.Arg358Gln
ENST00000483754.1:c.1997G>A (TRIM59-IFT80)	ENSP00000456272.1:p.Arg666Gln
ENST00000487943.5:n.2703G>A (IFT80)
ENST00000496589.5:c.1073G>A (IFT80)	ENSP00000420646.1:p.Arg358Gln
NM_001190241.1:c.1073G>A (IFT80)	NP_001177170.1:p.Arg358Gln
NM_001190242.1:c.1073G>A (IFT80)	NP_001177171.1:p.Arg358Gln
NM_020800.2:c.1484G>A (IFT80)	NP_065851.1:p.Arg495Gln
XR_924138.1:n.2900-7162C>T (C3orf80)
NR_148401.1:n.2192G>A (TRIM59-IFT80)
NR_148402.1:n.3728G>A (TRIM59-IFT80)
NR_148403.1:n.3995G>A (TRIM59-IFT80)
NM_020800.3:c.1484G>A (IFT80) MANE Select	NP_065851.1:p.Arg495Gln
NM_001190241.2:c.1073G>A (IFT80)	NP_001177170.1:p.Arg358Gln
NM_001190242.2:c.1073G>A (IFT80)	NP_001177171.1:p.Arg358Gln