Canonical Allele Identifier: CA436487688

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• dbSNP Id: rs1257847613
• gnomAD v4: 3-160282539-A-G
• MyVariant Identifiers: chr3:g.160000327A>G (hg19) ; chr3:g.160282539A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282539A>G , CM000665.2:g.160282539A>G	GRCh38
NC_000003.11:g.160000327A>G , CM000665.1:g.160000327A>G	GRCh37
NC_000003.10:g.161483021A>G	NCBI36
NG_022932.1:g.121994T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1455T>C (IFT80) MANE Select	ENSP00000312778.7:p.Asn485=
ENST00000326448.11:c.1455T>C (IFT80)	ENSP00000312778.7:p.Asn485=
ENST00000483465.5:c.1044T>C (IFT80)	ENSP00000418196.1:p.Asn348=
ENST00000483754.1:c.1968T>C (TRIM59-IFT80)	ENSP00000456272.1:p.Asn656=
ENST00000487943.5:n.2674T>C (IFT80)
ENST00000496589.5:c.1044T>C (IFT80)	ENSP00000420646.1:p.Asn348=
NM_001190241.1:c.1044T>C (IFT80)	NP_001177170.1:p.Asn348=
NM_001190242.1:c.1044T>C (IFT80)	NP_001177171.1:p.Asn348=
NM_020800.2:c.1455T>C (IFT80)	NP_065851.1:p.Asn485=
XR_924138.1:n.2900-7133A>G (C3orf80)
NR_148401.1:n.2163T>C (TRIM59-IFT80)
NR_148402.1:n.3699T>C (TRIM59-IFT80)
NR_148403.1:n.3966T>C (TRIM59-IFT80)
NM_020800.3:c.1455T>C (IFT80) MANE Select	NP_065851.1:p.Asn485=
NM_001190241.2:c.1044T>C (IFT80)	NP_001177170.1:p.Asn348=
NM_001190242.2:c.1044T>C (IFT80)	NP_001177171.1:p.Asn348=