Transcript #00002432

Transcript name calcium channel, voltage-dependent, L type, alpha 1F subunit
Gene name CACNA1F (calcium channel, voltage-dependent, L type, alpha 1F subunit)
Chromosome X
Transcript - NCBI ID NM_005183.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005174.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

287 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-35T>C r.(=) p.(=)
?/? c.25+45A>C r.(=) p.(=)
?/? c.25+463del r.(=) p.(=)
?/? c.25+463dup r.(=) p.(=)
?/? c.25+487_25+490del r.(=) p.(=)
?/? c.40C>A r.(?) p.(Pro14Thr)
?/? c.41C>T r.(?) p.(Pro14Leu)
?/? c.123G>A r.(=) p.(=)
?/? c.141C>A r.(=) p.(=)
?/? c.190A>G r.(?) p.(Ser64Gly)
?/? c.264C>A r.(=) p.(=)
?/? c.270G>T r.(?) p.(Glu90Asp)
?/? c.275+40C>A r.(=) p.(=)
?/? c.276-39A>G r.(=) p.(=)
?/? c.339C>T r.(=) p.(=)
?/? c.370A>G r.(?) p.(Asn124Asp)
?/? c.381+36A>G r.(=) p.(=)
?/? c.382-36C>T r.(=) p.(=)
?/? c.382-8A>G r.(=) p.(=)
?/? c.426G>A r.(=) p.(=)
?/? c.475A>G r.(?) p.(Ile159Val)
?/? c.521+26C>T r.(=) p.(=)
?/? c.521+39C>T r.(=) p.(=)
?/? c.664+22G>A r.(=) p.(=)
?/? c.665-33C>T r.(=) p.(=)
?/? c.692T>C r.(?) p.(Met231Thr)
?/? c.761T>C r.(?) p.(Ile254Thr)
?/? c.795G>C r.(?) p.(Lys265Asn)
?/? c.811G>A r.(?) p.(Gly271Arg)
?/? c.817+40C>A r.(=) p.(=)
?/? c.818-21C>G r.(=) p.(=)
?/? c.842C>T r.(?) p.(Ser281Leu)
?/? c.843G>C r.(=) p.(=)
?/? c.904C>T r.(?) p.(Arg302Cys)
?/? c.953T>C r.(?) p.(Phe318Ser)
?/? c.955G>A r.(?) p.(Ala319Thr)
?/? c.999C>T r.(=) p.(=)
?/? c.1000G>A r.(?) p.(Asp334Asn)
?/? c.1014+18C>T r.(=) p.(=)
?/? c.1015-51A>G r.(=) p.(=)
?/? c.1118+6G>A r.(=) p.(=)
?/? c.1119-47G>T r.(=) p.(=)
?/? c.1154G>T r.(?) p.(Arg385Leu)
?/? c.1174C>T r.(?) p.(Arg392Trp)
?/? c.1204C>T r.(?) p.(Arg402Trp)
?/? c.1302G>A r.(=) p.(=)
?/? c.1310-36G>C r.(=) p.(=)
?/? c.1319T>C r.(?) p.(Leu440Pro)
?/? c.1320G>A r.(=) p.(=)
?/? c.1324G>A r.(?) p.(Glu442Lys)
?/? c.1449C>T r.(=) p.(=)
?/? c.1468G>A r.(?) p.(Gly490Arg)
?/? c.1474C>G r.(?) p.(Leu492Val)
?/? c.1490G>A r.(?) p.(Arg497His)
?/? c.1496+21A>G r.(=) p.(=)
?/? c.1496+53C>G r.(=) p.(=)
?/? c.1497-37T>C r.(=) p.(=)
?/? c.1497-36T>C r.(=) p.(=)
?/? c.1497-33C>T r.(=) p.(=)
?/? c.1497-15C>A r.(=) p.(=)
?/? c.1523+50C>A r.(=) p.(=)
?/? c.1556G>A r.(?) p.(Arg519Gln)
?/? c.1561C>T r.(?) p.(Arg521Cys)
?/? c.1568G>A r.(?) p.(Arg523His)
?/? c.1570C>T r.(?) p.(Arg524Trp)
?/? c.1629G>A r.(=) p.(=)
?/? c.1638C>T r.(=) p.(=)
?/? c.1684+6C>T r.(=) p.(=)
?/? c.1685-48C>T r.(=) p.(=)
?/? c.1718C>T r.(?) p.(Thr573Met)
?/? c.1728G>A r.(?) p.(Met576Ile)
?/? c.1743C>T r.(=) p.(=)
?/? c.1842C>T r.(=) p.(=)
?/? c.1843G>A r.(?) p.(Ala615Thr)
?/? c.1903G>A r.(?) p.(Val635Ile)
?/? c.1910+48A>T r.(=) p.(=)
?/? c.1965C>T r.(=) p.(=)
?/? c.1968C>T r.(=) p.(=)
?/? c.2012C>G r.(?) p.(Ser671Cys)
?/? c.2061C>T r.(=) p.(=)
?/? c.2078C>A r.(?) p.(Thr693Asn)
?/? c.2118+33G>A r.(=) p.(=)
?/? c.2128G>A r.(?) p.(Gly710Ser)
?/? c.2143G>A r.(?) p.(Val715Met)
?/? c.2237A>C r.(?) p.(Asn746Thr)
?/? c.2239+48G>T r.(=) p.(=)
?/? c.2240-17G>A r.(=) p.(=)
?/? c.2321+19C>T r.(=) p.(=)
?/? c.2322-44C>T r.(=) p.(=)
?/? c.2322-6G>A r.(=) p.(=)
?/? c.2330G>A r.(?) p.(Ser777Asn)
?/? c.2364C>T r.(=) p.(=)
?/? c.2367+30C>T r.(=) p.(=)
?/? c.2368-56G>A r.(=) p.(=)
?/? c.2419+27G>A r.(=) p.(=)
?/? c.2419+36C>T r.(=) p.(=)
?/? c.2420-19del r.(=) p.(=)
?/? c.2420-19dup r.(=) p.(=)
?/? c.2442_2444del r.(?) p.(Glu825del)
?/? c.2442_2444dup r.(?) p.(Glu825dup)
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