Canonical Allele Identifier: CA355192403

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• dbSNP Id: rs1714768212
• gnomAD v3: 3-160282570-T-C
• gnomAD v4: 3-160282570-T-C
• MyVariant Identifiers: chr3:g.160000358T>C (hg19) ; chr3:g.160282570T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282570T>C , CM000665.2:g.160282570T>C	GRCh38
NC_000003.11:g.160000358T>C , CM000665.1:g.160000358T>C	GRCh37
NC_000003.10:g.161483052T>C	NCBI36
NG_022932.1:g.121963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1424A>G (IFT80) MANE Select	ENSP00000312778.7:p.Asn475Ser
ENST00000326448.11:c.1424A>G (IFT80)	ENSP00000312778.7:p.Asn475Ser
ENST00000483465.5:c.1013A>G (IFT80)	ENSP00000418196.1:p.Asn338Ser
ENST00000483754.1:c.1937A>G (TRIM59-IFT80)	ENSP00000456272.1:p.Asn646Ser
ENST00000487943.5:n.2643A>G (IFT80)
ENST00000496589.5:c.1013A>G (IFT80)	ENSP00000420646.1:p.Asn338Ser
NM_001190241.1:c.1013A>G (IFT80)	NP_001177170.1:p.Asn338Ser
NM_001190242.1:c.1013A>G (IFT80)	NP_001177171.1:p.Asn338Ser
NM_020800.2:c.1424A>G (IFT80)	NP_065851.1:p.Asn475Ser
XR_924138.1:n.2900-7102T>C (C3orf80)
NR_148401.1:n.2132A>G (TRIM59-IFT80)
NR_148402.1:n.3668A>G (TRIM59-IFT80)
NR_148403.1:n.3935A>G (TRIM59-IFT80)
NM_020800.3:c.1424A>G (IFT80) MANE Select	NP_065851.1:p.Asn475Ser
NM_001190241.2:c.1013A>G (IFT80)	NP_001177170.1:p.Asn338Ser
NM_001190242.2:c.1013A>G (IFT80)	NP_001177171.1:p.Asn338Ser