Canonical Allele Identifier: CA340278

Gene: IFT122

Linked Data

• ClinVar Variation Id: 4637
• ClinVar RCV Id: RCV000004900
• dbSNP Id: rs376595844
• ExAC: 3:129180152 G / A
• gnomAD v2: 3-129180152-G-A
• gnomAD v3: 3-129461309-G-A
• gnomAD v4: 3-129461309-G-A
• MyVariant Identifiers: chr3:g.129180152G>A (hg19) ; chr3:g.129461309G>A (hg38)
• PubMed: PMID:17022080 ; PMID:20493458 ; PMID:24027799

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129461309G>A , CM000665.2:g.129461309G>A	GRCh38
NC_000003.11:g.129180152G>A , CM000665.1:g.129180152G>A	GRCh37
NC_000003.10:g.130662842G>A	NCBI36
NG_023392.1:g.26185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431818.8:c.270+5G>A	ENSP00000410946.3:n.270+5G>A
ENST00000440957.7:c.270+5G>A	ENSP00000401569.3:n.270+5G>A
ENST00000504021.6:c.194-2251G>A	ENSP00000422179.2:n.194-2251G>A
ENST00000512157.6:c.349+5G>A	ENSP00000424206.2:n.349+5G>A
ENST00000515783.6:c.194-2251G>A	ENSP00000423288.2:n.194-2251G>A
ENST00000685087.1:c.194-2251G>A	ENSP00000509245.1:n.194-2251G>A
ENST00000685189.1:c.*257+5G>A	ENSP00000510418.1:n.*257+5G>A
ENST00000685282.1:c.349+5G>A	ENSP00000508642.1:n.349+5G>A
ENST00000685447.1:c.349+5G>A	ENSP00000509155.1:n.349+5G>A
ENST00000685811.1:n.1318+5G>A
ENST00000685921.1:c.349+5G>A	ENSP00000509914.1:n.349+5G>A
ENST00000685939.1:c.349+5G>A	ENSP00000509414.1:n.349+5G>A
ENST00000686375.1:c.349+5G>A	ENSP00000510777.1:n.349+5G>A
ENST00000686473.1:c.349+5G>A	ENSP00000508526.1:n.349+5G>A
ENST00000686531.1:c.194-2251G>A	ENSP00000510570.1:n.194-2251G>A
ENST00000686830.1:c.349+5G>A	ENSP00000510002.1:n.349+5G>A
ENST00000687377.1:c.349+5G>A	ENSP00000509225.1:n.349+5G>A
ENST00000687398.1:c.273-2251G>A	ENSP00000510191.1:n.273-2251G>A
ENST00000687461.1:n.712-2251G>A
ENST00000687645.1:c.349+5G>A	ENSP00000510672.1:n.349+5G>A
ENST00000687766.1:c.-101-2251G>A	ENSP00000509886.1:n.-101-2251G>A
ENST00000687791.1:c.349+5G>A	ENSP00000509224.1:n.349+5G>A
ENST00000687845.1:c.194-2251G>A	ENSP00000508687.1:n.194-2251G>A
ENST00000687864.1:n.546+5G>A
ENST00000688020.1:c.194-2251G>A	ENSP00000508904.1:n.194-2251G>A
ENST00000688129.1:c.*128+5G>A	ENSP00000509382.1:n.*128+5G>A
ENST00000688266.1:n.134+5G>A
ENST00000688392.1:n.781+5G>A
ENST00000688504.1:n.546+5G>A
ENST00000688664.1:c.349+5G>A	ENSP00000510359.1:n.349+5G>A
ENST00000688970.1:n.553+5G>A
ENST00000689005.1:c.194-2251G>A	ENSP00000510168.1:n.194-2251G>A
ENST00000689313.1:c.502+5G>A	ENSP00000509012.1:n.502+5G>A
ENST00000689332.1:c.349+5G>A	ENSP00000510425.1:n.349+5G>A
ENST00000689384.1:n.829+5G>A
ENST00000689492.1:c.349+5G>A	ENSP00000510239.1:n.349+5G>A
ENST00000689643.1:c.349+5G>A	ENSP00000509801.1:n.349+5G>A
ENST00000689796.1:c.349+5G>A	ENSP00000509716.1:n.349+5G>A
ENST00000689801.1:c.349+5G>A	ENSP00000509982.1:n.349+5G>A
ENST00000689819.1:n.546+5G>A
ENST00000689871.1:c.194-2251G>A	ENSP00000510412.1:n.194-2251G>A
ENST00000690209.1:c.349+5G>A	ENSP00000509005.1:n.349+5G>A
ENST00000690617.1:n.286+5G>A
ENST00000690663.1:c.194-2251G>A	ENSP00000509297.1:n.194-2251G>A
ENST00000690677.1:c.109-2251G>A	ENSP00000510036.1:n.109-2251G>A
ENST00000690723.1:c.349+5G>A	ENSP00000508811.1:n.349+5G>A
ENST00000690862.1:c.349+5G>A	ENSP00000509210.1:n.349+5G>A
ENST00000691360.1:c.349+5G>A	ENSP00000510040.1:n.349+5G>A
ENST00000691583.1:c.349+5G>A	ENSP00000510741.1:n.349+5G>A
ENST00000691641.1:c.*128+5G>A	ENSP00000509350.1:n.*128+5G>A
ENST00000691705.1:c.349+5G>A	ENSP00000510077.1:n.349+5G>A
ENST00000691733.1:c.349+5G>A	ENSP00000509735.1:n.349+5G>A
ENST00000691770.1:c.349+5G>A	ENSP00000510126.1:n.349+5G>A
ENST00000691964.1:c.349+5G>A	ENSP00000509094.1:n.349+5G>A
ENST00000692228.1:c.349+5G>A	ENSP00000508464.1:n.349+5G>A
ENST00000692242.1:c.349+5G>A	ENSP00000509878.1:n.349+5G>A
ENST00000692321.1:c.-101-2251G>A	ENSP00000508614.1:n.-101-2251G>A
ENST00000692391.1:c.349+5G>A	ENSP00000509211.1:n.349+5G>A
ENST00000692508.1:n.1173+5G>A
ENST00000692728.1:c.-102+5G>A	ENSP00000510105.1:n.-102+5G>A
ENST00000692901.1:c.118+5G>A	ENSP00000510339.1:n.118+5G>A
ENST00000692985.1:c.349+5G>A	ENSP00000510460.1:n.349+5G>A
ENST00000693114.1:c.349+5G>A	ENSP00000508738.1:n.349+5G>A
ENST00000693129.1:c.349+5G>A	ENSP00000509806.1:n.349+5G>A
ENST00000693162.1:c.349+5G>A	ENSP00000509103.1:n.349+5G>A
ENST00000693233.1:c.-101-2251G>A	ENSP00000509186.1:n.-101-2251G>A
ENST00000693489.1:c.349+5G>A	ENSP00000509656.1:n.349+5G>A
ENST00000693588.1:c.194-2251G>A	ENSP00000509216.1:n.194-2251G>A
ENST00000693654.1:n.587-2251G>A
ENST00000348417.7:c.349+5G>A MANE Select	ENSP00000324005.4:n.349+5G>A
ENST00000296266.7:c.502+5G>A	ENSP00000296266.3:n.502+5G>A
ENST00000347300.6:c.349+5G>A	ENSP00000323973.3:n.349+5G>A
ENST00000348417.6:c.349+5G>A	ENSP00000324005.3:n.349+5G>A
ENST00000349441.6:c.194-2251G>A	ENSP00000324165.3:n.194-2251G>A
ENST00000431818.6:c.-102+5G>A	ENSP00000410946.2:n.-102+5G>A
ENST00000440957.6:c.-102+5G>A	ENSP00000401569.2:n.-102+5G>A
ENST00000502304.5:c.402+5G>A
ENST00000502456.5:c.383-2251G>A
ENST00000504021.5:c.194-2236G>A	ENSP00000422179.1:n.194-2236G>A
ENST00000506507.5:n.309+5G>A
ENST00000507564.5:c.502+5G>A	ENSP00000425536.1:n.502+5G>A
ENST00000508826.5:c.203+5G>A
ENST00000509195.5:c.223+5G>A
ENST00000509815.1:n.153-8033G>A
ENST00000511498.1:c.-294G>A	ENSP00000422237.1:n.-294G>A
ENST00000512157.5:c.308+5G>A
ENST00000512220.5:c.*257+5G>A	ENSP00000421953.1:n.*257+5G>A
ENST00000514275.5:c.229+5G>A
ENST00000515783.5:c.153-2251G>A
NM_001280541.1:c.502+5G>A	NP_001267470.1:n.502+5G>A
NM_001280545.1:c.-102+5G>A	NP_001267474.1:n.-102+5G>A
NM_001280546.1:c.-102+5G>A	NP_001267475.1:n.-102+5G>A
NM_018262.3:c.349+5G>A	NP_060732.2:n.349+5G>A
NM_052985.3:c.502+5G>A	NP_443711.2:n.502+5G>A
NM_052989.2:c.349+5G>A	NP_443715.1:n.349+5G>A
NM_052990.2:c.194-2251G>A	NP_443716.1:n.194-2251G>A
XM_005247609.1:c.349+5G>A	XP_005247666.1:n.349+5G>A
XM_006713689.1:c.349+5G>A	XP_006713752.1:n.349+5G>A
XM_006713691.2:c.349+5G>A	XP_006713754.1:n.349+5G>A
XM_006713692.2:c.349+5G>A	XP_006713755.1:n.349+5G>A
XM_006713695.2:c.349+5G>A	XP_006713758.1:n.349+5G>A
XM_011512967.1:c.194-2251G>A	XP_011511269.1:n.194-2251G>A
XM_011512968.1:c.-102+5G>A	XP_011511270.1:n.-102+5G>A
XM_011512969.1:c.-101-2251G>A	XP_011511271.1:n.-101-2251G>A
XM_011512970.1:c.-101-2251G>A	XP_011511272.1:n.-101-2251G>A
XM_011512971.1:c.-101-2251G>A	XP_011511273.1:n.-101-2251G>A
XM_011512972.1:c.349+5G>A	XP_011511274.1:n.349+5G>A
XM_005247609.2:c.349+5G>A	XP_005247666.1:n.349+5G>A
XM_006713689.2:c.349+5G>A	XP_006713752.1:n.349+5G>A
XM_006713691.3:c.349+5G>A	XP_006713754.1:n.349+5G>A
XM_006713692.3:c.349+5G>A	XP_006713755.1:n.349+5G>A
XM_006713695.3:c.349+5G>A	XP_006713758.1:n.349+5G>A
XM_011512972.3:c.349+5G>A	XP_011511274.1:n.349+5G>A
XM_017006817.2:c.349+5G>A	XP_016862306.1:n.349+5G>A
XM_017006818.2:c.349+5G>A	XP_016862307.1:n.349+5G>A
XM_017006819.2:c.349+5G>A	XP_016862308.1:n.349+5G>A
XM_017006820.2:c.349+5G>A	XP_016862309.1:n.349+5G>A
XM_017006821.2:c.349+5G>A	XP_016862310.1:n.349+5G>A
XM_017006822.2:c.194-2251G>A	XP_016862311.1:n.194-2251G>A
XM_017006823.2:c.349+5G>A	XP_016862312.1:n.349+5G>A
XM_017006824.2:c.349+5G>A	XP_016862313.1:n.349+5G>A
XM_017006825.2:c.349+5G>A	XP_016862314.1:n.349+5G>A
XM_017006826.2:c.349+5G>A	XP_016862315.1:n.349+5G>A
XM_017006827.2:c.349+5G>A	XP_016862316.1:n.349+5G>A
XM_017006828.2:c.194-2251G>A	XP_016862317.1:n.194-2251G>A
XM_017006829.2:c.194-2251G>A	XP_016862318.1:n.194-2251G>A
XM_017006830.2:c.-102+5G>A	XP_016862319.1:n.-102+5G>A
XM_017006831.1:c.-101-2251G>A	XP_016862320.1:n.-101-2251G>A
XM_017006832.1:c.-101-2251G>A	XP_016862321.1:n.-101-2251G>A
XM_017006833.2:c.194-2251G>A	XP_016862322.1:n.194-2251G>A
XM_017006834.2:c.194-2251G>A	XP_016862323.1:n.194-2251G>A
XM_017006835.1:c.-101-2251G>A	XP_016862324.1:n.-101-2251G>A
XM_017006836.2:c.-102+5G>A	XP_016862325.1:n.-102+5G>A
XM_017006838.2:c.-898+5G>A	XP_016862327.1:n.-898+5G>A
XM_024453639.1:c.-588+5G>A	XP_024309407.1:n.-588+5G>A
NM_001280541.2:c.502+5G>A	NP_001267470.1:n.502+5G>A
NM_018262.4:c.349+5G>A	NP_060732.2:n.349+5G>A
NM_052985.4:c.502+5G>A	NP_443711.2:n.502+5G>A
NM_052989.3:c.349+5G>A MANE Select	NP_443715.1:n.349+5G>A
NM_052990.3:c.194-2251G>A	NP_443716.1:n.194-2251G>A
NM_001280545.2:c.-102+5G>A	NP_001267474.1:n.-102+5G>A
NM_001280546.2:c.-102+5G>A	NP_001267475.1:n.-102+5G>A