Canonical Allele Identifier: CA436487944

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• dbSNP Id: rs1180918423
• gnomAD v2: 3-160000390-C-T
• gnomAD v4: 3-160282602-C-T
• MyVariant Identifiers: chr3:g.160000390C>T (hg19) ; chr3:g.160282602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282602C>T , CM000665.2:g.160282602C>T	GRCh38
NC_000003.11:g.160000390C>T , CM000665.1:g.160000390C>T	GRCh37
NC_000003.10:g.161483084C>T	NCBI36
NG_022932.1:g.121931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1392G>A (IFT80) MANE Select	ENSP00000312778.7:p.Leu464=
ENST00000326448.11:c.1392G>A (IFT80)	ENSP00000312778.7:p.Leu464=
ENST00000483465.5:c.981G>A (IFT80)	ENSP00000418196.1:p.Leu327=
ENST00000483754.1:c.1905G>A (TRIM59-IFT80)	ENSP00000456272.1:p.Leu635=
ENST00000487943.5:n.2611G>A (IFT80)
ENST00000496589.5:c.981G>A (IFT80)	ENSP00000420646.1:p.Leu327=
NM_001190241.1:c.981G>A (IFT80)	NP_001177170.1:p.Leu327=
NM_001190242.1:c.981G>A (IFT80)	NP_001177171.1:p.Leu327=
NM_020800.2:c.1392G>A (IFT80)	NP_065851.1:p.Leu464=
XR_924138.1:n.2900-7070C>T (C3orf80)
NR_148401.1:n.2100G>A (TRIM59-IFT80)
NR_148402.1:n.3636G>A (TRIM59-IFT80)
NR_148403.1:n.3903G>A (TRIM59-IFT80)
NM_020800.3:c.1392G>A (IFT80) MANE Select	NP_065851.1:p.Leu464=
NM_001190241.2:c.981G>A (IFT80)	NP_001177170.1:p.Leu327=
NM_001190242.2:c.981G>A (IFT80)	NP_001177171.1:p.Leu327=