Transcript #00000049

Transcript name transcript variant A
Gene name ABCB4 (ATP-binding cassette, sub-family B (MDR/TAP), member 4)
Chromosome 7
Transcript - NCBI ID NM_000443.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000434.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

211 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-6-43C>T r.(=) p.(=)
?/? c.-6-40A>G r.(=) p.(=)
?/? c.-6-28T>G r.(=) p.(=)
?/? c.-6-4T>C r.spl? p.?
?/? c.-1G>A r.(=) p.(=)
?/? c.1A>G r.? p.?
?/? c.54G>A r.(=) p.(=)
?/? c.80+5A>C r.spl? p.?
?/? c.80+41A>G r.(=) p.(=)
?/? c.81-16A>G r.(=) p.(=)
?/? c.101C>T r.(?) p.(Thr34Met)
?/? c.139C>T r.(?) p.(Arg47*)
?/? c.140G>A r.(?) p.(Arg47Gln)
?/? c.147C>T r.(=) p.(=)
?/? c.173C>T r.(?) p.(Ser58Leu)
?/? c.175C>T r.(=) p.(=)
?/? c.217C>G r.(?) p.(Leu73Val)
?/? c.283C>T r.(?) p.(Pro95Ser)
?/? c.286+28del r.(=) p.(=)
?/? c.287-30T>C r.(=) p.(=)
?/? c.287-1G>A r.spl? p.?
?/? c.344+9T>C r.(=) p.(=)
?/? c.344+29A>G r.(=) p.(=)
?/? c.345-50_345-46del r.(=) p.(=)
?/? c.345-17T>C r.(=) p.(=)
?/? c.456G>A r.(=) p.(=)
?/? c.459T>C r.(=) p.(=)
?/? c.475C>T r.(?) p.(Arg159*)
?/? c.504C>T r.(=) p.(=)
?/? c.523A>G r.(?) p.(Thr175Ala)
?/? c.536+11T>C r.(=) p.(=)
?/? c.536+24C>T r.(=) p.(=)
?/? c.536+32T>C r.(=) p.(=)
?/? c.536+44del r.(=) p.(=)
?/? c.537-44C>A r.(=) p.(=)
?/? c.586T>C r.(?) p.(Phe196Leu)
?/? c.669C>G r.(?) p.(Ile223Met)
?/? c.696C>T r.(=) p.(=)
?/? c.708+30G>A r.(=) p.(=)
?/? c.709-38C>G r.(=) p.(=)
?/? c.709-22T>A r.(=) p.(=)
?/? c.709-17G>C r.(=) p.(=)
?/? c.709-7T>C r.(=) p.(=)
?/? c.709-6G>A r.(=) p.(=)
?/? c.711A>T r.(=) p.(=)
?/? c.712C>G r.(?) p.(Leu238Val)
?/? c.726T>G r.(?) p.(Ser242Arg)
?/? c.760G>A r.(?) p.(Ala254Thr)
?/? c.833+6G>A r.(=) p.(=)
?/? c.833+35T>C r.(=) p.(=)
?/? c.834-50A>G r.(=) p.(=)
?/? c.834-43G>A r.(=) p.(=)
?/? c.834-36T>G r.(=) p.(=)
?/? c.875A>G r.(?) p.(Lys292Arg)
?/? c.911C>A r.(?) p.(Ala304Asp)
?/? c.927T>C r.(=) p.(=)
?/? c.959C>T r.(?) p.(Ser320Phe)
?/? c.1001T>C r.(?) p.(Met334Thr)
?/? c.1005+23A>G r.(=) p.(=)
?/? c.1005+41T>G r.(=) p.(=)
?/? c.1119+28A>T r.(=) p.(=)
?/? c.1120-51G>T r.(=) p.(=)
?/? c.1143A>G r.(=) p.(=)
?/? c.1230+18T>C r.(=) p.(=)
?/? c.1231-16C>T r.(=) p.(=)
?/? c.1240G>C r.(?) p.(Gly414Arg)
?/? c.1271C>T r.(?) p.(Thr424Met)
?/? c.1285G>A r.(?) p.(Gly429Arg)
?/? c.1288A>C r.(?) p.(Ser430Arg)
?/? c.1313C>T r.(?) p.(Thr438Met)
?/? c.1314G>A r.(=) p.(=)
?/? c.1356+26A>G r.(=) p.(=)
?/? c.1356+35A>G r.(=) p.(=)
?/? c.1357-40A>G r.(=) p.(=)
?/? c.1357-17A>G r.(=) p.(=)
?/? c.1377T>C r.(=) p.(=)
?/? c.1457T>C r.(?) p.(Ile486Thr)
?/? c.1462G>C r.(?) p.(Glu488Gln)
?/? c.1529A>G r.(?) p.(Asn510Ser)
?/? c.1560+35T>C r.(=) p.(=)
?/? c.1561-5_1561-4del r.spl? p.?
?/? c.1578T>C r.(=) p.(=)
?/? c.1584G>C r.(?) p.(Glu528Asp)
?/? c.1592C>T r.(?) p.(Ala531Val)
?/? c.1624G>A r.(?) p.(Ala542Thr)
?/? c.1651C>A r.(?) p.(Pro551Thr)
?/? c.1687T>C r.(=) p.(=)
?/? c.1731+50A>G r.(=) p.(=)
?/? c.1732-46T>G r.(=) p.(=)
?/? c.1732-39A>G r.(=) p.(=)
?/? c.1732-37A>G r.(=) p.(=)
?/? c.1732-27T>C r.(=) p.(=)
?/? c.1767C>T r.(=) p.(=)
?/? c.1769G>A r.(?) p.(Arg590Gln)
?/? c.1779G>T r.(=) p.(=)
?/? c.1783C>A r.(=) p.(=)
?/? c.1784G>A r.(?) p.(Arg595Gln)
?/? c.1846G>A r.(?) p.(Glu616Lys)
?/? c.1858_1860del r.(?) p.(Lys620del)
?/? c.1869G>A r.(=) p.(=)
Legend   « First ‹ Prev     1 2 3     Next › Last »