Canonical Allele Identifier: CA1055565040

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• dbSNP Id: rs1457986336
• gnomAD v3: 3-160282666-G-T
• gnomAD v4: 3-160282666-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282666G>T , CM000665.2:g.160282666G>T	GRCh38
NC_000003.11:g.160000454G>T , CM000665.1:g.160000454G>T	GRCh37
NC_000003.10:g.161483148G>T	NCBI36
NG_022932.1:g.121867C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1381-53C>A (IFT80) MANE Select	ENSP00000312778.7:n.1381-53C>A
ENST00000326448.11:c.1381-53C>A (IFT80)	ENSP00000312778.7:n.1381-53C>A
ENST00000483465.5:c.970-53C>A (IFT80)	ENSP00000418196.1:n.970-53C>A
ENST00000483754.1:c.1894-53C>A (TRIM59-IFT80)	ENSP00000456272.1:n.1894-53C>A
ENST00000487943.5:n.2600-53C>A (IFT80)
ENST00000496589.5:c.970-53C>A (IFT80)	ENSP00000420646.1:n.970-53C>A
NM_001190241.1:c.970-53C>A (IFT80)	NP_001177170.1:n.970-53C>A
NM_001190242.1:c.970-53C>A (IFT80)	NP_001177171.1:n.970-53C>A
NM_020800.2:c.1381-53C>A (IFT80)	NP_065851.1:n.1381-53C>A
XR_924138.1:n.2900-7006G>T (C3orf80)
NR_148401.1:n.2089-53C>A (TRIM59-IFT80)
NR_148402.1:n.3625-53C>A (TRIM59-IFT80)
NR_148403.1:n.3892-53C>A (TRIM59-IFT80)
NM_020800.3:c.1381-53C>A (IFT80) MANE Select	NP_065851.1:n.1381-53C>A
NM_001190241.2:c.970-53C>A (IFT80)	NP_001177170.1:n.970-53C>A
NM_001190242.2:c.970-53C>A (IFT80)	NP_001177171.1:n.970-53C>A