Canonical Allele Identifier: CA355192448

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• ClinVar Variation Id: 1498171
• ClinVar RCV Id: RCV001996447
• dbSNP Id: rs1210834952
• gnomAD v4: 3-160282589-C-A
• MyVariant Identifiers: chr3:g.160000377C>A (hg19) ; chr3:g.160282589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282589C>A , CM000665.2:g.160282589C>A	GRCh38
NC_000003.11:g.160000377C>A , CM000665.1:g.160000377C>A	GRCh37
NC_000003.10:g.161483071C>A	NCBI36
NG_022932.1:g.121944G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1405G>T (IFT80) MANE Select	ENSP00000312778.7:p.Asp469Tyr
ENST00000326448.11:c.1405G>T (IFT80)	ENSP00000312778.7:p.Asp469Tyr
ENST00000483465.5:c.994G>T (IFT80)	ENSP00000418196.1:p.Asp332Tyr
ENST00000483754.1:c.1918G>T (TRIM59-IFT80)	ENSP00000456272.1:p.Asp640Tyr
ENST00000487943.5:n.2624G>T (IFT80)
ENST00000496589.5:c.994G>T (IFT80)	ENSP00000420646.1:p.Asp332Tyr
NM_001190241.1:c.994G>T (IFT80)	NP_001177170.1:p.Asp332Tyr
NM_001190242.1:c.994G>T (IFT80)	NP_001177171.1:p.Asp332Tyr
NM_020800.2:c.1405G>T (IFT80)	NP_065851.1:p.Asp469Tyr
XR_924138.1:n.2900-7083C>A (C3orf80)
NR_148401.1:n.2113G>T (TRIM59-IFT80)
NR_148402.1:n.3649G>T (TRIM59-IFT80)
NR_148403.1:n.3916G>T (TRIM59-IFT80)
NM_020800.3:c.1405G>T (IFT80) MANE Select	NP_065851.1:p.Asp469Tyr
NM_001190241.2:c.994G>T (IFT80)	NP_001177170.1:p.Asp332Tyr
NM_001190242.2:c.994G>T (IFT80)	NP_001177171.1:p.Asp332Tyr