Canonical Allele Identifier: CA2684900

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• ClinVar Variation Id: 343960
• ClinVar RCV Id: RCV000266632 ; RCV001691978
• dbSNP Id: rs16831149
• ExAC: 3:159976271 C / T
• gnomAD v2: 3-159976271-C-T
• gnomAD v3: 3-160258483-C-T
• gnomAD v4: 3-160258483-C-T
• MyVariant Identifiers: chr3:g.159976271C>T (hg19) ; chr3:g.160258483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160258483C>T , CM000665.2:g.160258483C>T	GRCh38
NC_000003.11:g.159976271C>T , CM000665.1:g.159976271C>T	GRCh37
NC_000003.10:g.161458965C>T	NCBI36
NG_022932.1:g.146050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.*42G>A (IFT80) MANE Select	ENSP00000312778.7:n.*42G>A
ENST00000326448.11:c.*42G>A (IFT80)	ENSP00000312778.7:n.*42G>A
ENST00000463240.1:n.524G>A (IFT80)
ENST00000478278.1:n.502G>A (IFT80)
ENST00000483465.5:c.*42G>A (IFT80)	ENSP00000418196.1:n.*42G>A
ENST00000483754.1:c.*42G>A (TRIM59-IFT80)	ENSP00000456272.1:n.*42G>A
ENST00000487943.5:n.3595G>A (IFT80)
ENST00000496589.5:c.*42G>A (IFT80)	ENSP00000420646.1:n.*42G>A
NM_001190241.1:c.*42G>A (IFT80)	NP_001177170.1:n.*42G>A
NM_001190242.1:c.*42G>A (IFT80)	NP_001177171.1:n.*42G>A
NM_020800.2:c.*42G>A (IFT80)	NP_065851.1:n.*42G>A
XR_924136.1:n.2900-2387C>T (C3orf80)
XR_924137.1:n.2900-2387C>T (C3orf80)
XR_924138.1:n.2900-31189C>T (C3orf80)
NR_148401.1:n.3084G>A (TRIM59-IFT80)
NR_148402.1:n.4620G>A (TRIM59-IFT80)
NR_148403.1:n.4887G>A (TRIM59-IFT80)
NM_020800.3:c.*42G>A (IFT80) MANE Select	NP_065851.1:n.*42G>A
NM_001190241.2:c.*42G>A (IFT80)	NP_001177170.1:n.*42G>A
NM_001190242.2:c.*42G>A (IFT80)	NP_001177171.1:n.*42G>A