Canonical Allele Identifier: CA2685515

Gene: IFT80 TRIM59-IFT80

Linked Data

• dbSNP Id: rs760279545
• ExAC: 3:160095196 G / A
• gnomAD v2: 3-160095196-G-A
• gnomAD v3: 3-160377408-G-A
• gnomAD v4: 3-160377408-G-A
• MyVariant Identifiers: chr3:g.160095196G>A (hg19) ; chr3:g.160377408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160377408G>A , CM000665.2:g.160377408G>A	GRCh38
NC_000003.11:g.160095196G>A , CM000665.1:g.160095196G>A	GRCh37
NC_000003.10:g.161577890G>A	NCBI36
NG_022932.1:g.27125C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326448.12:c.370+22C>T (IFT80) MANE Select	ENSP00000312778.7:n.370+22C>T
ENST00000326448.11:c.370+22C>T (IFT80)	ENSP00000312778.7:n.370+22C>T
ENST00000465537.5:c.-42+22C>T (IFT80)	ENSP00000418602.1:n.-42+22C>T
ENST00000468218.5:c.-42+22C>T (IFT80)	ENSP00000417057.1:n.-42+22C>T
ENST00000472773.5:n.494+22C>T (IFT80)
ENST00000475677.5:c.-42+22C>T (IFT80)	ENSP00000419458.1:n.-42+22C>T
ENST00000477495.5:n.516+22C>T (IFT80)
ENST00000478370.5:c.-42+22C>T (IFT80)	ENSP00000420758.1:n.-42+22C>T
ENST00000478460.5:n.187+22C>T (IFT80)
ENST00000482317.5:c.*107+22C>T (IFT80)	ENSP00000418497.1:n.*107+22C>T
ENST00000483465.5:c.-42+22C>T (IFT80)	ENSP00000418196.1:n.-42+22C>T
ENST00000483754.1:c.953-11256C>T (TRIM59-IFT80)	ENSP00000456272.1:n.953-11256C>T
ENST00000484963.5:c.25+22C>T (IFT80)	ENSP00000420260.1:n.25+22C>T
ENST00000486856.5:c.-42+22C>T (IFT80)	ENSP00000417861.1:n.-42+22C>T
ENST00000487943.5:n.1699+22C>T (IFT80)
ENST00000496589.5:c.-42+22C>T (IFT80)	ENSP00000420646.1:n.-42+22C>T
ENST00000498409.5:c.370+22C>T (IFT80)	ENSP00000420001.1:n.370+22C>T
NM_001190241.1:c.-42+22C>T (IFT80)	NP_001177170.1:n.-42+22C>T
NM_001190242.1:c.-42+22C>T (IFT80)	NP_001177171.1:n.-42+22C>T
NM_020800.2:c.370+22C>T (IFT80)	NP_065851.1:n.370+22C>T
NR_148401.1:n.1148-11256C>T (TRIM59-IFT80)
NR_148402.1:n.2614+22C>T (TRIM59-IFT80)
NR_148403.1:n.2881+22C>T (TRIM59-IFT80)
NM_020800.3:c.370+22C>T (IFT80) MANE Select	NP_065851.1:n.370+22C>T
NM_001190241.2:c.-42+22C>T (IFT80)	NP_001177170.1:n.-42+22C>T
NM_001190242.2:c.-42+22C>T (IFT80)	NP_001177171.1:n.-42+22C>T