View transcript #00000011

Transcript name cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Gene name CFTR (cystic fibrosis transmembrane conductance regulator)
Chromosome 7
Transcript - NCBI ID NM_000492.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000483.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

5 entries on 1 page. Showing entries 1 - 5.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 8 NC_000007.14:g.117540178delT NM_000492.3:c.948delT NP_000483.3:p.Phe316Leufs
+/. 11 NC_000007.14:g.117559592_117559594delCTT NM_000492.3:c.1521_1523delCTT NP_000483.3:p.Phe508del
+/. 12 NC_000007.14:g.117587800G>A NM_000492.3:c.1646G>A NP_000483.3:p.Ser549Asn
./. 24 NC_000007.14:g.117652877C>G NM_000492.3:c.3909C>G NP_000483.3:p.Asn1303Lys
+/. 11 c.1521_1523del c.1521_1523delCTT p.(Phe508del)
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