Canonical Allele Identifier: CA218428053
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs536112301

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412720G>A , CM000673.2:g.17412720G>A GRCh38
NC_000011.9:g.17434267G>A , CM000673.1:g.17434267G>A GRCh37
NC_000011.8:g.17390843G>A NCBI36
NG_008867.1:g.69183C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2171C>T
ENST00000529967.6:n.761C>T
ENST00000642611.2:n.2571C>T
ENST00000682051.1:n.2518C>T
ENST00000682110.1:n.2571C>T
ENST00000682140.1:c.2499C>T ENSP00000507829.1:p.Arg833=
ENST00000682185.1:n.3807C>T
ENST00000682204.1:c.*640C>T ENSP00000507094.1:n.*640C>T
ENST00000682215.1:n.2568C>T
ENST00000682288.1:c.*933C>T ENSP00000507506.1:n.*933C>T
ENST00000682442.1:n.2692C>T
ENST00000682528.1:n.2568C>T
ENST00000682673.1:n.2515C>T
ENST00000682805.1:n.2568C>T
ENST00000682965.1:c.2499C>T ENSP00000508229.1:p.Arg833=
ENST00000683093.1:n.2670C>T
ENST00000683136.1:c.2499C>T ENSP00000507768.1:p.Arg833=
ENST00000683153.1:n.2727C>T
ENST00000683365.1:n.2673C>T
ENST00000683377.1:n.2571C>T
ENST00000683456.1:c.2502C>T ENSP00000508318.1:p.Arg834=
ENST00000683522.1:n.2571C>T
ENST00000683562.1:c.*671C>T ENSP00000508265.1:n.*671C>T
ENST00000683693.1:n.2568C>T
ENST00000683725.1:c.2502C>T ENSP00000507496.1:p.Arg834=
ENST00000684010.1:n.2486C>T
ENST00000684157.1:n.2571C>T
ENST00000684253.1:n.2474C>T
ENST00000684288.1:c.*674C>T ENSP00000507143.1:n.*674C>T
ENST00000684313.1:n.2003C>T
ENST00000684332.1:n.2644C>T
ENST00000684371.1:n.2677C>T
ENST00000684404.1:n.2568C>T
ENST00000684442.1:n.2571C>T
ENST00000684555.1:c.*714C>T ENSP00000507705.1:n.*714C>T
ENST00000684571.1:c.2343C>T ENSP00000506935.1:p.Arg781=
ENST00000684593.1:c.*2207C>T ENSP00000507005.1:n.*2207C>T
ENST00000684711.1:c.*898C>T ENSP00000506841.1:n.*898C>T
ENST00000302539.9:c.2505C>T ENSP00000303960.4:p.Arg835=
ENST00000389817.8:c.2502C>T MANE Select ENSP00000374467.4:p.Arg834=
ENST00000642271.1:c.2499C>T ENSP00000493749.1:p.Arg833=
ENST00000642579.1:c.586C>T
ENST00000642611.1:n.2456C>T
ENST00000642902.1:c.2337C>T
ENST00000643260.1:c.2502C>T ENSP00000494450.1:p.Arg834=
ENST00000643562.1:c.*478C>T ENSP00000496124.1:n.*478C>T
ENST00000643925.1:c.546C>T
ENST00000644447.1:c.858C>T ENSP00000496282.1:p.Arg286=
ENST00000644472.1:c.*863C>T ENSP00000495378.1:n.*863C>T
ENST00000644484.1:c.*711C>T ENSP00000493558.1:n.*711C>T
ENST00000644542.1:c.*2207C>T ENSP00000495532.1:n.*2207C>T
ENST00000644675.1:c.*674C>T ENSP00000494567.1:n.*674C>T
ENST00000644757.1:c.*807C>T ENSP00000495085.1:n.*807C>T
ENST00000644772.1:c.2568C>T ENSP00000494321.1:p.Arg856=
ENST00000645076.1:c.1754C>T
ENST00000645744.1:c.*866C>T ENSP00000494564.1:n.*866C>T
ENST00000645760.1:c.2777C>T
ENST00000645884.1:c.2502C>T ENSP00000495516.1:p.Arg834=
ENST00000646003.1:c.*558C>T ENSP00000495259.1:n.*558C>T
ENST00000646207.1:c.*866C>T ENSP00000495025.1:n.*866C>T
ENST00000646276.1:c.*775C>T ENSP00000496070.1:n.*775C>T
ENST00000646592.1:c.1728C>T
ENST00000646902.1:c.2499C>T ENSP00000494101.1:p.Arg833=
ENST00000646993.1:c.*898C>T ENSP00000493720.1:n.*898C>T
ENST00000647013.1:c.2508C>T ENSP00000496741.1:n.2508C>T
ENST00000647015.1:c.2253C>T ENSP00000495389.1:p.Arg751=
ENST00000647086.1:c.*2232C>T ENSP00000493677.1:n.*2232C>T
ENST00000647158.1:c.*643C>T ENSP00000495744.1:n.*643C>T
ENST00000302539.8:c.2505C>T ENSP00000303960.4:p.Arg835=
ENST00000389817.7:c.2502C>T ENSP00000374467.3:p.Arg834=
ENST00000526921.5:n.186C>T
ENST00000527905.5:c.2472C>T ENSP00000431653.1:p.Arg824=
ENST00000529967.5:n.171C>T
ENST00000530147.5:n.85C>T
ENST00000531911.1:n.616C>T
NM_000352.4:c.2502C>T NP_000343.2:p.Arg834=
NM_001287174.1:c.2505C>T NP_001274103.1:p.Arg835=
XM_011520331.1:c.2502C>T XP_011518633.1:p.Arg834=
XM_011520332.1:c.2505C>T XP_011518634.1:p.Arg835=
XM_011520333.1:c.1002C>T XP_011518635.1:p.Arg334=
XM_011520334.1:c.2505C>T XP_011518636.1:p.Arg835=
XR_930890.1:n.2568C>T
XR_930891.1:n.2568C>T
XR_930892.1:n.2568C>T
XR_930893.1:n.2565C>T
NM_001351295.1:c.2568C>T NP_001338224.1:p.Arg856=
NM_001351296.1:c.2502C>T NP_001338225.1:p.Arg834=
NM_001351297.1:c.2499C>T NP_001338226.1:p.Arg833=
NR_147094.1:n.2571C>T
XM_017018197.2:c.2571C>T XP_016873686.1:p.Arg857=
XM_017018199.1:c.2568C>T XP_016873688.1:p.Arg856=
XM_017018201.2:c.2571C>T XP_016873690.1:p.Arg857=
XM_017018202.1:c.1068C>T XP_016873691.1:p.Arg356=
XM_017018204.1:c.459C>T XP_016873693.1:p.Arg153=
XM_024448668.1:c.870C>T XP_024304436.1:p.Arg290=
XR_001747945.2:n.2643C>T
XR_001747946.2:n.2574C>T
XR_002957189.1:n.2643C>T
NM_000352.6:c.2502C>T MANE Select NP_000343.2:p.Arg834=
NM_001287174.2:c.2505C>T NP_001274103.1:p.Arg835=
NM_001351295.2:c.2568C>T NP_001338224.1:p.Arg856=
NM_001351296.2:c.2502C>T NP_001338225.1:p.Arg834=
NM_001351297.2:c.2499C>T NP_001338226.1:p.Arg833=
NR_147094.2:n.2571C>T
NM_001287174.3:c.2505C>T NP_001274103.1:p.Arg835=