Canonical Allele Identifier: CA236204

Gene: IFT122

Linked Data

• ClinVar Variation Id: 191185
• ClinVar RCV Id: RCV000171371 ; RCV000256473 ; RCV004527368
• dbSNP Id: rs786205567
• MyVariant Identifiers: chr3:g.129218913T>C (hg19) ; chr3:g.129500070T>C (hg38)
• PubMed: PMID:27894351

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129500070T>C , CM000665.2:g.129500070T>C	GRCh38
NC_000003.11:g.129218913T>C , CM000665.1:g.129218913T>C	GRCh37
NC_000003.10:g.130701603T>C	NCBI36
NG_023392.1:g.64946T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431818.8:c.*1585+2T>C	ENSP00000410946.3:n.*1585+2T>C
ENST00000440957.7:c.*1696+2T>C	ENSP00000401569.3:n.*1696+2T>C
ENST00000504021.6:c.1988+2T>C	ENSP00000422179.2:n.1988+2T>C
ENST00000507221.2:c.461+2T>C	ENSP00000427515.2:n.461+2T>C
ENST00000509522.6:c.747+2T>C
ENST00000512157.6:c.*795+2T>C	ENSP00000424206.2:n.*795+2T>C
ENST00000513932.2:n.665+2T>C
ENST00000515783.6:c.1880+2T>C	ENSP00000423288.2:n.1880+2T>C
ENST00000685087.1:c.1931+2T>C	ENSP00000509245.1:n.1931+2T>C
ENST00000685122.1:c.461+2T>C	ENSP00000510278.1:n.461+2T>C
ENST00000685189.1:c.*2106+2T>C	ENSP00000510418.1:n.*2106+2T>C
ENST00000685282.1:c.2375+2T>C	ENSP00000508642.1:n.2375+2T>C
ENST00000685447.1:c.2144+2T>C	ENSP00000509155.1:n.2144+2T>C
ENST00000685512.1:n.2922+2T>C
ENST00000685811.1:n.3113+2T>C
ENST00000685921.1:c.2087+2T>C	ENSP00000509914.1:n.2087+2T>C
ENST00000685939.1:c.*795+2T>C	ENSP00000509414.1:n.*795+2T>C
ENST00000686375.1:c.*795+2T>C	ENSP00000510777.1:n.*795+2T>C
ENST00000686473.1:c.2033+2T>C	ENSP00000508526.1:n.2033+2T>C
ENST00000686531.1:c.1979+2T>C	ENSP00000510570.1:n.1979+2T>C
ENST00000686830.1:c.2036+2T>C	ENSP00000510002.1:n.2036+2T>C
ENST00000687377.1:c.2321+2T>C	ENSP00000509225.1:n.2321+2T>C
ENST00000687398.1:c.*1833+2T>C	ENSP00000510191.1:n.*1833+2T>C
ENST00000687461.1:n.2737+2T>C
ENST00000687645.1:c.2375+2T>C	ENSP00000510672.1:n.2375+2T>C
ENST00000687766.1:c.1694+2T>C	ENSP00000509886.1:n.1694+2T>C
ENST00000687791.1:c.2144+2T>C	ENSP00000509224.1:n.2144+2T>C
ENST00000687845.1:c.1988+2T>C	ENSP00000508687.1:n.1988+2T>C
ENST00000687864.1:n.2395+2T>C
ENST00000688020.1:c.2219+2T>C	ENSP00000508904.1:n.2219+2T>C
ENST00000688129.1:c.*1977+2T>C	ENSP00000509382.1:n.*1977+2T>C
ENST00000688266.1:n.1983+2T>C
ENST00000688392.1:n.2786+2T>C
ENST00000688504.1:n.2341+2T>C
ENST00000688527.1:c.515+2T>C	ENSP00000508740.1:n.515+2T>C
ENST00000688657.1:c.353+2T>C	ENSP00000508933.1:n.353+2T>C
ENST00000688664.1:c.*1623+2T>C	ENSP00000510359.1:n.*1623+2T>C
ENST00000688970.1:n.2579+2T>C
ENST00000689005.1:c.1895+2T>C	ENSP00000510168.1:n.1895+2T>C
ENST00000689313.1:c.2351+2T>C	ENSP00000509012.1:n.2351+2T>C
ENST00000689332.1:c.2198+2T>C	ENSP00000510425.1:n.2198+2T>C
ENST00000689384.1:n.2780+2T>C
ENST00000689492.1:c.2051+2T>C	ENSP00000510239.1:n.2051+2T>C
ENST00000689643.1:c.2375+2T>C	ENSP00000509801.1:n.2375+2T>C
ENST00000689796.1:c.2036+2T>C	ENSP00000509716.1:n.2036+2T>C
ENST00000689801.1:c.2144+2T>C	ENSP00000509982.1:n.2144+2T>C
ENST00000689871.1:c.2144+2T>C	ENSP00000510412.1:n.2144+2T>C
ENST00000690209.1:c.2198+2T>C	ENSP00000509005.1:n.2198+2T>C
ENST00000690617.1:n.2312+2T>C
ENST00000690657.1:c.515+2T>C	ENSP00000510699.1:n.515+2T>C
ENST00000690663.1:c.1988+2T>C	ENSP00000509297.1:n.1988+2T>C
ENST00000690677.1:c.*1535+2T>C	ENSP00000510036.1:n.*1535+2T>C
ENST00000690723.1:c.2198+2T>C	ENSP00000508811.1:n.2198+2T>C
ENST00000690862.1:c.2144+2T>C	ENSP00000509210.1:n.2144+2T>C
ENST00000691148.1:n.2842+2T>C
ENST00000691360.1:c.*1801+2T>C	ENSP00000510040.1:n.*1801+2T>C
ENST00000691583.1:c.2144+2T>C	ENSP00000510741.1:n.2144+2T>C
ENST00000691641.1:c.*1923+2T>C	ENSP00000509350.1:n.*1923+2T>C
ENST00000691705.1:c.2198+2T>C	ENSP00000510077.1:n.2198+2T>C
ENST00000691733.1:c.2198+2T>C	ENSP00000509735.1:n.2198+2T>C
ENST00000691770.1:c.2144+2T>C	ENSP00000510126.1:n.2144+2T>C
ENST00000691964.1:c.2144+2T>C	ENSP00000509094.1:n.2144+2T>C
ENST00000692228.1:c.*1272+2T>C	ENSP00000508464.1:n.*1272+2T>C
ENST00000692242.1:c.2375+2T>C	ENSP00000509878.1:n.2375+2T>C
ENST00000692321.1:c.1694+2T>C	ENSP00000508614.1:n.1694+2T>C
ENST00000692391.1:c.2198+2T>C	ENSP00000509211.1:n.2198+2T>C
ENST00000692508.1:n.3022+2T>C
ENST00000692728.1:c.1694+2T>C	ENSP00000510105.1:n.1694+2T>C
ENST00000692901.1:c.1967+2T>C	ENSP00000510339.1:n.1967+2T>C
ENST00000692929.1:n.1229+2T>C
ENST00000692985.1:c.*2010+2T>C	ENSP00000510460.1:n.*2010+2T>C
ENST00000693114.1:c.*1209+2T>C	ENSP00000508738.1:n.*1209+2T>C
ENST00000693129.1:c.2321+2T>C	ENSP00000509806.1:n.2321+2T>C
ENST00000693162.1:c.2198+2T>C	ENSP00000509103.1:n.2198+2T>C
ENST00000693233.1:c.1748+2T>C	ENSP00000509186.1:n.1748+2T>C
ENST00000693489.1:c.2312+2T>C	ENSP00000509656.1:n.2312+2T>C
ENST00000693588.1:c.2042+2T>C	ENSP00000509216.1:n.2042+2T>C
ENST00000693654.1:n.2612+2T>C
ENST00000348417.7:c.2375+2T>C MANE Select	ENSP00000324005.4:n.2375+2T>C
ENST00000296266.7:c.2528+2T>C	ENSP00000296266.3:n.2528+2T>C
ENST00000347300.6:c.2198+2T>C	ENSP00000323973.3:n.2198+2T>C
ENST00000348417.6:c.2375+2T>C	ENSP00000324005.3:n.2375+2T>C
ENST00000349441.6:c.2042+2T>C	ENSP00000324165.3:n.2042+2T>C
ENST00000431818.6:c.1925+2T>C	ENSP00000410946.2:n.1925+2T>C
ENST00000440957.6:c.1748+2T>C	ENSP00000401569.2:n.1748+2T>C
ENST00000504021.5:c.2003+2T>C	ENSP00000422179.1:n.2003+2T>C
ENST00000506507.5:n.2158+2T>C
ENST00000507221.1:c.461+2T>C	ENSP00000427515.1:n.461+2T>C
ENST00000507564.5:c.2351+2T>C	ENSP00000425536.1:n.2351+2T>C
ENST00000509522.5:c.866+2T>C	ENSP00000424727.1:n.866+2T>C
ENST00000511425.5:n.784+2T>C
ENST00000512220.5:c.*2283+2T>C	ENSP00000421953.1:n.*2283+2T>C
ENST00000513932.1:n.325+2T>C
NM_001280541.1:c.2351+2T>C	NP_001267470.1:n.2351+2T>C
NM_001280545.1:c.1925+2T>C	NP_001267474.1:n.1925+2T>C
NM_001280546.1:c.1748+2T>C	NP_001267475.1:n.1748+2T>C
NM_018262.3:c.2198+2T>C	NP_060732.2:n.2198+2T>C
NM_052985.3:c.2528+2T>C	NP_443711.2:n.2528+2T>C
NM_052989.2:c.2375+2T>C	NP_443715.1:n.2375+2T>C
NM_052990.2:c.2042+2T>C	NP_443716.1:n.2042+2T>C
XM_005247609.1:c.2198+2T>C	XP_005247666.1:n.2198+2T>C
XM_006713689.1:c.2375+2T>C	XP_006713752.1:n.2375+2T>C
XM_006713691.2:c.2321+2T>C	XP_006713754.1:n.2321+2T>C
XM_006713692.2:c.2144+2T>C	XP_006713755.1:n.2144+2T>C
XM_006713695.2:c.2375+2T>C	XP_006713758.1:n.2375+2T>C
XM_011512967.1:c.2219+2T>C	XP_011511269.1:n.2219+2T>C
XM_011512968.1:c.1925+2T>C	XP_011511270.1:n.1925+2T>C
XM_011512969.1:c.1925+2T>C	XP_011511271.1:n.1925+2T>C
XM_011512970.1:c.1925+2T>C	XP_011511272.1:n.1925+2T>C
XM_011512971.1:c.1748+2T>C	XP_011511273.1:n.1748+2T>C
XM_011512972.1:c.2375+2T>C	XP_011511274.1:n.2375+2T>C
XM_011512973.1:c.971+2T>C	XP_011511275.1:n.971+2T>C
XM_005247609.2:c.2198+2T>C	XP_005247666.1:n.2198+2T>C
XM_006713689.2:c.2375+2T>C	XP_006713752.1:n.2375+2T>C
XM_006713691.3:c.2321+2T>C	XP_006713754.1:n.2321+2T>C
XM_006713692.3:c.2144+2T>C	XP_006713755.1:n.2144+2T>C
XM_006713695.3:c.2375+2T>C	XP_006713758.1:n.2375+2T>C
XM_011512972.3:c.2375+2T>C	XP_011511274.1:n.2375+2T>C
XM_017006817.2:c.2375+2T>C	XP_016862306.1:n.2375+2T>C
XM_017006818.2:c.2375+2T>C	XP_016862307.1:n.2375+2T>C
XM_017006819.2:c.2321+2T>C	XP_016862308.1:n.2321+2T>C
XM_017006820.2:c.2321+2T>C	XP_016862309.1:n.2321+2T>C
XM_017006821.2:c.2321+2T>C	XP_016862310.1:n.2321+2T>C
XM_017006822.2:c.2219+2T>C	XP_016862311.1:n.2219+2T>C
XM_017006823.2:c.2198+2T>C	XP_016862312.1:n.2198+2T>C
XM_017006824.2:c.2198+2T>C	XP_016862313.1:n.2198+2T>C
XM_017006825.2:c.2144+2T>C	XP_016862314.1:n.2144+2T>C
XM_017006826.2:c.2144+2T>C	XP_016862315.1:n.2144+2T>C
XM_017006827.2:c.2144+2T>C	XP_016862316.1:n.2144+2T>C
XM_017006828.2:c.2042+2T>C	XP_016862317.1:n.2042+2T>C
XM_017006829.2:c.2042+2T>C	XP_016862318.1:n.2042+2T>C
XM_017006830.2:c.1925+2T>C	XP_016862319.1:n.1925+2T>C
XM_017006831.1:c.1925+2T>C	XP_016862320.1:n.1925+2T>C
XM_017006832.1:c.1925+2T>C	XP_016862321.1:n.1925+2T>C
XM_017006833.2:c.1988+2T>C	XP_016862322.1:n.1988+2T>C
XM_017006834.2:c.1988+2T>C	XP_016862323.1:n.1988+2T>C
XM_017006835.1:c.1748+2T>C	XP_016862324.1:n.1748+2T>C
XM_017006836.2:c.1694+2T>C	XP_016862325.1:n.1694+2T>C
XM_017006837.1:c.971+2T>C	XP_016862326.1:n.971+2T>C
XM_017006838.2:c.971+2T>C	XP_016862327.1:n.971+2T>C
XM_024453639.1:c.1418+2T>C	XP_024309407.1:n.1418+2T>C
NM_001280541.2:c.2351+2T>C	NP_001267470.1:n.2351+2T>C
NM_018262.4:c.2198+2T>C	NP_060732.2:n.2198+2T>C
NM_052985.4:c.2528+2T>C	NP_443711.2:n.2528+2T>C
NM_052989.3:c.2375+2T>C MANE Select	NP_443715.1:n.2375+2T>C
NM_052990.3:c.2042+2T>C	NP_443716.1:n.2042+2T>C
NM_001280545.2:c.1925+2T>C	NP_001267474.1:n.1925+2T>C
NM_001280546.2:c.1748+2T>C	NP_001267475.1:n.1748+2T>C