Canonical Allele Identifier: CA10615163

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• ClinVar Variation Id: 343954
• ClinVar RCV Id: RCV000394553
• dbSNP Id: rs886058125
• gnomAD v3: 3-160257681-C-A
• gnomAD v4: 3-160257681-C-A
• MyVariant Identifiers: chr3:g.159975469C>A (hg19) ; chr3:g.160257681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160257681C>A , CM000665.2:g.160257681C>A	GRCh38
NC_000003.11:g.159975469C>A , CM000665.1:g.159975469C>A	GRCh37
NC_000003.10:g.161458163C>A	NCBI36
NG_022932.1:g.146852G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.*844G>T (IFT80) MANE Select	ENSP00000312778.7:n.*844G>T
ENST00000326448.11:c.*844G>T (IFT80)	ENSP00000312778.7:n.*844G>T
ENST00000483465.5:c.*844G>T (IFT80)	ENSP00000418196.1:n.*844G>T
ENST00000483754.1:c.*58+786G>T (TRIM59-IFT80)	ENSP00000456272.1:n.*58+786G>T
NM_001190241.1:c.*844G>T (IFT80)	NP_001177170.1:n.*844G>T
NM_001190242.1:c.*844G>T (IFT80)	NP_001177171.1:n.*844G>T
NM_020800.2:c.*844G>T (IFT80)	NP_065851.1:n.*844G>T
XR_924136.1:n.2900-3189C>A (C3orf80)
XR_924137.1:n.2900-3189C>A (C3orf80)
XR_924138.1:n.2899+30999C>A (C3orf80)
NR_148401.1:n.3100+786G>T (TRIM59-IFT80)
NR_148402.1:n.5422G>T (TRIM59-IFT80)
NR_148403.1:n.5689G>T (TRIM59-IFT80)
NM_020800.3:c.*844G>T (IFT80) MANE Select	NP_065851.1:n.*844G>T
NM_001190241.2:c.*844G>T (IFT80)	NP_001177170.1:n.*844G>T
NM_001190242.2:c.*844G>T (IFT80)	NP_001177171.1:n.*844G>T