Canonical Allele Identifier: CA1955128725
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17407125C= , CM000673.2:g.17407125C= GRCh38
NC_000011.9:g.17428672C= , CM000673.1:g.17428672C= GRCh37
NC_000011.8:g.17385248C= NCBI36
NG_008867.1:g.74778G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2494G=
ENST00000529967.6:n.1264G=
ENST00000532220.2:n.657G=
ENST00000642611.2:n.2994G=
ENST00000645004.2:n.424G=
ENST00000682051.1:n.2941G=
ENST00000682110.1:n.2994G=
ENST00000682140.1:c.2922G= ENSP00000507829.1:p.Glu974=
ENST00000682185.1:n.4230G=
ENST00000682204.1:c.*1063G= ENSP00000507094.1:n.*1063G=
ENST00000682215.1:n.2991G=
ENST00000682288.1:c.*1356G= ENSP00000507506.1:n.*1356G=
ENST00000682442.1:n.3115G=
ENST00000682528.1:n.3071G=
ENST00000682673.1:n.2938G=
ENST00000682805.1:n.2991G=
ENST00000682965.1:c.2922G= ENSP00000508229.1:p.Glu974=
ENST00000683093.1:n.3093G=
ENST00000683136.1:c.2922G= ENSP00000507768.1:p.Glu974=
ENST00000683153.1:n.3150G=
ENST00000683365.1:n.3096G=
ENST00000683377.1:n.2994G=
ENST00000683456.1:c.*62G= ENSP00000508318.1:n.*62G=
ENST00000683522.1:n.2994G=
ENST00000683562.1:c.*1094G= ENSP00000508265.1:n.*1094G=
ENST00000683693.1:n.3071G=
ENST00000683725.1:c.2925G= ENSP00000507496.1:p.Glu975=
ENST00000684010.1:n.2989G=
ENST00000684157.1:n.2994G=
ENST00000684253.1:n.2897G=
ENST00000684288.1:c.*1097G= ENSP00000507143.1:n.*1097G=
ENST00000684313.1:n.2426G=
ENST00000684332.1:n.3067G=
ENST00000684371.1:n.3100G=
ENST00000684404.1:n.3037G=
ENST00000684442.1:n.2994G=
ENST00000684555.1:c.*1137G= ENSP00000507705.1:n.*1137G=
ENST00000684571.1:c.2766G= ENSP00000506935.1:p.Glu922=
ENST00000684593.1:c.*2630G= ENSP00000507005.1:n.*2630G=
ENST00000684711.1:c.*1321G= ENSP00000506841.1:n.*1321G=
ENST00000302539.9:c.2928G= ENSP00000303960.4:p.Glu976=
ENST00000389817.8:c.2925G= MANE Select ENSP00000374467.4:p.Glu975=
ENST00000642271.1:c.2922G= ENSP00000493749.1:p.Glu974=
ENST00000642579.1:c.1009G=
ENST00000642611.1:n.2879G=
ENST00000642902.1:c.2756-49G=
ENST00000643260.1:c.2925G= ENSP00000494450.1:p.Glu975=
ENST00000643562.1:c.*901G= ENSP00000496124.1:n.*901G=
ENST00000643925.1:c.1049G=
ENST00000644447.1:c.1281G= ENSP00000496282.1:p.Glu427=
ENST00000644484.1:c.*1180G= ENSP00000493558.1:n.*1180G=
ENST00000644542.1:c.*2630G= ENSP00000495532.1:n.*2630G=
ENST00000644675.1:c.*1097G= ENSP00000494567.1:n.*1097G=
ENST00000644757.1:c.*1210G= ENSP00000495085.1:n.*1210G=
ENST00000644772.1:c.2991G= ENSP00000494321.1:p.Glu997=
ENST00000645004.1:n.64G=
ENST00000645076.1:c.2173-49G=
ENST00000645417.1:c.91G=
ENST00000645744.1:c.*1189G= ENSP00000494564.1:n.*1189G=
ENST00000645760.1:c.3200G=
ENST00000645884.1:c.*62G= ENSP00000495516.1:n.*62G=
ENST00000646003.1:c.*881G= ENSP00000495259.1:n.*881G=
ENST00000646207.1:c.*1392G= ENSP00000495025.1:n.*1392G=
ENST00000646276.1:c.*1198G= ENSP00000496070.1:n.*1198G=
ENST00000646592.1:c.2231G=
ENST00000646902.1:c.2922G= ENSP00000494101.1:p.Glu974=
ENST00000646993.1:c.*1321G= ENSP00000493720.1:n.*1321G=
ENST00000647013.1:c.2931G= ENSP00000496741.1:n.2931G=
ENST00000647015.1:c.2676G= ENSP00000495389.1:p.Glu892=
ENST00000647086.1:c.*2655G= ENSP00000493677.1:n.*2655G=
ENST00000647158.1:c.*1066G= ENSP00000495744.1:n.*1066G=
ENST00000302539.8:c.2928G= ENSP00000303960.4:p.Glu976=
ENST00000389817.7:c.2925G= ENSP00000374467.3:p.Glu975=
ENST00000524561.1:n.57G=
ENST00000526921.5:n.609G=
ENST00000527905.5:c.2795G= ENSP00000431653.1:p.Arg932=
ENST00000529967.5:n.594G=
NM_000352.4:c.2925G= NP_000343.2:p.Glu975=
NM_001287174.1:c.2928G= NP_001274103.1:p.Glu976=
XM_011520331.1:c.2925G= XP_011518633.1:p.Glu975=
XM_011520332.1:c.2928G= XP_011518634.1:p.Glu976=
XM_011520333.1:c.1425G= XP_011518635.1:p.Glu475=
XR_930890.1:n.2991G=
XR_930891.1:n.2991G=
XR_930892.1:n.2891G=
XR_930893.1:n.2888G=
NM_001351295.1:c.2991G= NP_001338224.1:p.Glu997=
NM_001351296.1:c.2925G= NP_001338225.1:p.Glu975=
NM_001351297.1:c.2922G= NP_001338226.1:p.Glu974=
NR_147094.1:n.3074G=
XM_017018197.2:c.2994G= XP_016873686.1:p.Glu998=
XM_017018199.1:c.2991G= XP_016873688.1:p.Glu997=
XM_017018201.2:c.2994G= XP_016873690.1:p.Glu998=
XM_017018202.1:c.1491G= XP_016873691.1:p.Glu497=
XM_017018204.1:c.882G= XP_016873693.1:p.Glu294=
XM_024448668.1:c.1293G= XP_024304436.1:p.Glu431=
XR_001747945.2:n.3066G=
XR_001747946.2:n.2997G=
XR_002957189.1:n.3146G=
NM_000352.6:c.2925G= MANE Select NP_000343.2:p.Glu975=
NM_001287174.2:c.2928G= NP_001274103.1:p.Glu976=
NM_001351295.2:c.2991G= NP_001338224.1:p.Glu997=
NM_001351296.2:c.2925G= NP_001338225.1:p.Glu975=
NM_001351297.2:c.2922G= NP_001338226.1:p.Glu974=
NR_147094.2:n.3074G=
NM_001287174.3:c.2928G= NP_001274103.1:p.Glu976=