Canonical Allele Identifier: CA379802957
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406772T>C , CM000673.2:g.17406772T>C GRCh38
NC_000011.9:g.17428319T>C , CM000673.1:g.17428319T>C GRCh37
NC_000011.8:g.17384895T>C NCBI36
NG_008867.1:g.75131A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2748A>G
ENST00000529967.6:n.1518A>G
ENST00000532220.2:n.911A>G
ENST00000642611.2:n.3248A>G
ENST00000645004.2:n.678A>G
ENST00000682051.1:n.3195A>G
ENST00000682110.1:n.3248A>G
ENST00000682140.1:c.3176A>G ENSP00000507829.1:p.Gln1059Arg
ENST00000682185.1:n.4484A>G
ENST00000682204.1:c.*1317A>G ENSP00000507094.1:n.*1317A>G
ENST00000682215.1:n.3245A>G
ENST00000682288.1:c.*1610A>G ENSP00000507506.1:n.*1610A>G
ENST00000682442.1:n.3468A>G
ENST00000682528.1:n.3325A>G
ENST00000682673.1:n.3192A>G
ENST00000682805.1:n.3245A>G
ENST00000682965.1:c.3176A>G ENSP00000508229.1:p.Gln1059Arg
ENST00000683093.1:n.3347A>G
ENST00000683136.1:c.3176A>G ENSP00000507768.1:p.Gln1059Arg
ENST00000683153.1:n.3404A>G
ENST00000683365.1:n.3350A>G
ENST00000683377.1:n.3248A>G
ENST00000683456.1:c.*316A>G ENSP00000508318.1:n.*316A>G
ENST00000683522.1:n.3248A>G
ENST00000683562.1:c.*1348A>G ENSP00000508265.1:n.*1348A>G
ENST00000683693.1:n.3325A>G
ENST00000683725.1:c.3179A>G ENSP00000507496.1:p.Gln1060Arg
ENST00000684010.1:n.3243A>G
ENST00000684157.1:n.3248A>G
ENST00000684253.1:n.3151A>G
ENST00000684288.1:c.*1351A>G ENSP00000507143.1:n.*1351A>G
ENST00000684313.1:n.2680A>G
ENST00000684332.1:n.3321A>G
ENST00000684371.1:n.3354A>G
ENST00000684404.1:n.3291A>G
ENST00000684442.1:n.3248A>G
ENST00000684555.1:c.*1391A>G ENSP00000507705.1:n.*1391A>G
ENST00000684571.1:c.3020A>G ENSP00000506935.1:p.Gln1007Arg
ENST00000684593.1:c.*2884A>G ENSP00000507005.1:n.*2884A>G
ENST00000684711.1:c.*1575A>G ENSP00000506841.1:n.*1575A>G
ENST00000302539.9:c.3182A>G ENSP00000303960.4:p.Gln1061Arg
ENST00000389817.8:c.3179A>G MANE Select ENSP00000374467.4:p.Gln1060Arg
ENST00000642271.1:c.3176A>G ENSP00000493749.1:p.Gln1059Arg
ENST00000642579.1:c.1263A>G
ENST00000642611.1:n.3133A>G
ENST00000642902.1:c.2961A>G
ENST00000643260.1:c.3179A>G ENSP00000494450.1:p.Gln1060Arg
ENST00000643562.1:c.*1155A>G ENSP00000496124.1:n.*1155A>G
ENST00000643925.1:c.1303A>G
ENST00000644447.1:c.1535A>G ENSP00000496282.1:p.Gln512Arg
ENST00000644484.1:c.*1434A>G ENSP00000493558.1:n.*1434A>G
ENST00000644542.1:c.*2983A>G ENSP00000495532.1:n.*2983A>G
ENST00000644675.1:c.*1351A>G ENSP00000494567.1:n.*1351A>G
ENST00000644757.1:c.*1464A>G ENSP00000495085.1:n.*1464A>G
ENST00000644772.1:c.3245A>G ENSP00000494321.1:p.Gln1082Arg
ENST00000645004.1:n.318A>G
ENST00000645076.1:c.2378A>G
ENST00000645417.1:c.345A>G
ENST00000645744.1:c.*1443A>G ENSP00000494564.1:n.*1443A>G
ENST00000645760.1:c.3454A>G
ENST00000645884.1:c.*316A>G ENSP00000495516.1:n.*316A>G
ENST00000646003.1:c.*1135A>G ENSP00000495259.1:n.*1135A>G
ENST00000646207.1:c.*1646A>G ENSP00000495025.1:n.*1646A>G
ENST00000646276.1:c.*1452A>G ENSP00000496070.1:n.*1452A>G
ENST00000646592.1:c.2485A>G
ENST00000646902.1:c.3176A>G ENSP00000494101.1:p.Gln1059Arg
ENST00000646993.1:c.*1575A>G ENSP00000493720.1:n.*1575A>G
ENST00000647013.1:c.3185A>G ENSP00000496741.1:n.3185A>G
ENST00000647015.1:c.2930A>G ENSP00000495389.1:p.Gln977Arg
ENST00000647086.1:c.*2909A>G ENSP00000493677.1:n.*2909A>G
ENST00000647158.1:c.*1320A>G ENSP00000495744.1:n.*1320A>G
ENST00000302539.8:c.3182A>G ENSP00000303960.4:p.Gln1061Arg
ENST00000389817.7:c.3179A>G ENSP00000374467.3:p.Gln1060Arg
ENST00000524561.1:n.311A>G
ENST00000526921.5:n.863A>G
ENST00000527905.5:c.*55A>G ENSP00000431653.1:n.*55A>G
NM_000352.4:c.3179A>G NP_000343.2:p.Gln1060Arg
NM_001287174.1:c.3182A>G NP_001274103.1:p.Gln1061Arg
XM_011520331.1:c.3179A>G XP_011518633.1:p.Gln1060Arg
XM_011520332.1:c.3182A>G XP_011518634.1:p.Gln1061Arg
XM_011520333.1:c.1679A>G XP_011518635.1:p.Gln560Arg
XR_930890.1:n.3245A>G
XR_930891.1:n.3245A>G
XR_930892.1:n.3145A>G
XR_930893.1:n.3142A>G
NM_001351295.1:c.3245A>G NP_001338224.1:p.Gln1082Arg
NM_001351296.1:c.3179A>G NP_001338225.1:p.Gln1060Arg
NM_001351297.1:c.3176A>G NP_001338226.1:p.Gln1059Arg
NR_147094.1:n.3328A>G
XM_017018197.2:c.3248A>G XP_016873686.1:p.Gln1083Arg
XM_017018199.1:c.3245A>G XP_016873688.1:p.Gln1082Arg
XM_017018201.2:c.3248A>G XP_016873690.1:p.Gln1083Arg
XM_017018202.1:c.1745A>G XP_016873691.1:p.Gln582Arg
XM_017018204.1:c.1136A>G XP_016873693.1:p.Gln379Arg
XM_024448668.1:c.1547A>G XP_024304436.1:p.Gln516Arg
XR_001747945.2:n.3320A>G
XR_001747946.2:n.3251A>G
XR_002957189.1:n.3400A>G
NM_000352.6:c.3179A>G MANE Select NP_000343.2:p.Gln1060Arg
NM_001287174.2:c.3182A>G NP_001274103.1:p.Gln1061Arg
NM_001351295.2:c.3245A>G NP_001338224.1:p.Gln1082Arg
NM_001351296.2:c.3179A>G NP_001338225.1:p.Gln1060Arg
NM_001351297.2:c.3176A>G NP_001338226.1:p.Gln1059Arg
NR_147094.2:n.3328A>G
NM_001287174.3:c.3182A>G NP_001274103.1:p.Gln1061Arg