Canonical Allele Identifier: CA9866879

Gene: IFT52

Linked Data

• ClinVar Variation Id: 253306
• ClinVar RCV Id: RCV000240043
• dbSNP Id: rs748090019
• ExAC: 20:42233652 C / T
• gnomAD v2: 20-42233652-C-T
• gnomAD v3: 20-43605012-C-T
• gnomAD v4: 20-43605012-C-T
• MyVariant Identifiers: chr20:g.42233652C>T (hg19) ; chr20:g.43605012C>T (hg38)
• PubMed: PMID:26880018

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43605012C>T , CM000682.2:g.43605012C>T	GRCh38
NC_000020.10:g.42233652C>T , CM000682.1:g.42233652C>T	GRCh37
NC_000020.9:g.41667066C>T	NCBI36
NG_051913.1:g.19400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.424C>T MANE Select	ENSP00000362121.3:p.Arg142Ter
ENST00000373030.7:c.424C>T	ENSP00000362121.3:p.Arg142Ter
ENST00000373039.4:c.424C>T	ENSP00000362130.4:p.Arg142Ter
ENST00000476986.1:n.103C>T
ENST00000486243.1:n.195C>T
NM_001303458.1:c.424C>T	NP_001290387.1:p.Arg142Ter
NM_001303459.1:c.424C>T	NP_001290388.1:p.Arg142Ter
NM_016004.3:c.424C>T	NP_057088.2:p.Arg142Ter
NM_001303458.2:c.424C>T	NP_001290387.1:p.Arg142Ter
NM_001303459.2:c.424C>T	NP_001290388.1:p.Arg142Ter
NM_001323578.1:c.-248C>T	NP_001310507.1:n.-248C>T
NM_001323579.1:c.-341C>T	NP_001310508.1:n.-341C>T
NM_001323580.1:c.-248C>T	NP_001310509.1:n.-248C>T
NM_001323581.1:c.-341C>T	NP_001310510.1:n.-341C>T
NM_016004.4:c.424C>T	NP_057088.2:p.Arg142Ter
XM_017027863.2:c.-484C>T	XP_016883352.1:n.-484C>T
NM_001303458.3:c.424C>T	NP_001290387.1:p.Arg142Ter
NM_001303459.3:c.424C>T	NP_001290388.1:p.Arg142Ter
NM_001323578.2:c.-248C>T	NP_001310507.1:n.-248C>T
NM_001323579.2:c.-341C>T	NP_001310508.1:n.-341C>T
NM_001323580.2:c.-248C>T	NP_001310509.1:n.-248C>T
NM_001323581.2:c.-341C>T	NP_001310510.1:n.-341C>T
NM_016004.5:c.424C>T MANE Select	NP_057088.2:p.Arg142Ter