Canonical Allele Identifier: CA1955131337
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412721C= , CM000673.2:g.17412721C= GRCh38
NC_000011.9:g.17434268C= , CM000673.1:g.17434268C= GRCh37
NC_000011.8:g.17390844C= NCBI36
NG_008867.1:g.69182G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2170G=
ENST00000529967.6:n.760G=
ENST00000642611.2:n.2570G=
ENST00000682051.1:n.2517G=
ENST00000682110.1:n.2570G=
ENST00000682140.1:c.2498G= ENSP00000507829.1:p.Arg833=
ENST00000682185.1:n.3806G=
ENST00000682204.1:c.*639G= ENSP00000507094.1:n.*639G=
ENST00000682215.1:n.2567G=
ENST00000682288.1:c.*932G= ENSP00000507506.1:n.*932G=
ENST00000682442.1:n.2691G=
ENST00000682528.1:n.2567G=
ENST00000682673.1:n.2514G=
ENST00000682805.1:n.2567G=
ENST00000682965.1:c.2498G= ENSP00000508229.1:p.Arg833=
ENST00000683093.1:n.2669G=
ENST00000683136.1:c.2498G= ENSP00000507768.1:p.Arg833=
ENST00000683153.1:n.2726G=
ENST00000683365.1:n.2672G=
ENST00000683377.1:n.2570G=
ENST00000683456.1:c.2501G= ENSP00000508318.1:p.Arg834=
ENST00000683522.1:n.2570G=
ENST00000683562.1:c.*670G= ENSP00000508265.1:n.*670G=
ENST00000683693.1:n.2567G=
ENST00000683725.1:c.2501G= ENSP00000507496.1:p.Arg834=
ENST00000684010.1:n.2485G=
ENST00000684157.1:n.2570G=
ENST00000684253.1:n.2473G=
ENST00000684288.1:c.*673G= ENSP00000507143.1:n.*673G=
ENST00000684313.1:n.2002G=
ENST00000684332.1:n.2643G=
ENST00000684371.1:n.2676G=
ENST00000684404.1:n.2567G=
ENST00000684442.1:n.2570G=
ENST00000684555.1:c.*713G= ENSP00000507705.1:n.*713G=
ENST00000684571.1:c.2342G= ENSP00000506935.1:p.Arg781=
ENST00000684593.1:c.*2206G= ENSP00000507005.1:n.*2206G=
ENST00000684711.1:c.*897G= ENSP00000506841.1:n.*897G=
ENST00000302539.9:c.2504G= ENSP00000303960.4:p.Arg835=
ENST00000389817.8:c.2501G= MANE Select ENSP00000374467.4:p.Arg834=
ENST00000642271.1:c.2498G= ENSP00000493749.1:p.Arg833=
ENST00000642579.1:c.585G=
ENST00000642611.1:n.2455G=
ENST00000642902.1:c.2336G=
ENST00000643260.1:c.2501G= ENSP00000494450.1:p.Arg834=
ENST00000643562.1:c.*477G= ENSP00000496124.1:n.*477G=
ENST00000643925.1:c.545G=
ENST00000644447.1:c.857G= ENSP00000496282.1:p.Arg286=
ENST00000644472.1:c.*862G= ENSP00000495378.1:n.*862G=
ENST00000644484.1:c.*710G= ENSP00000493558.1:n.*710G=
ENST00000644542.1:c.*2206G= ENSP00000495532.1:n.*2206G=
ENST00000644675.1:c.*673G= ENSP00000494567.1:n.*673G=
ENST00000644757.1:c.*806G= ENSP00000495085.1:n.*806G=
ENST00000644772.1:c.2567G= ENSP00000494321.1:p.Arg856=
ENST00000645076.1:c.1753G=
ENST00000645744.1:c.*865G= ENSP00000494564.1:n.*865G=
ENST00000645760.1:c.2776G=
ENST00000645884.1:c.2501G= ENSP00000495516.1:p.Arg834=
ENST00000646003.1:c.*557G= ENSP00000495259.1:n.*557G=
ENST00000646207.1:c.*865G= ENSP00000495025.1:n.*865G=
ENST00000646276.1:c.*774G= ENSP00000496070.1:n.*774G=
ENST00000646592.1:c.1727G=
ENST00000646902.1:c.2498G= ENSP00000494101.1:p.Arg833=
ENST00000646993.1:c.*897G= ENSP00000493720.1:n.*897G=
ENST00000647013.1:c.2507G= ENSP00000496741.1:n.2507G=
ENST00000647015.1:c.2252G= ENSP00000495389.1:p.Arg751=
ENST00000647086.1:c.*2231G= ENSP00000493677.1:n.*2231G=
ENST00000647158.1:c.*642G= ENSP00000495744.1:n.*642G=
ENST00000302539.8:c.2504G= ENSP00000303960.4:p.Arg835=
ENST00000389817.7:c.2501G= ENSP00000374467.3:p.Arg834=
ENST00000526921.5:n.185G=
ENST00000527905.5:c.2471G= ENSP00000431653.1:p.Arg824=
ENST00000529967.5:n.170G=
ENST00000530147.5:n.84G=
ENST00000531911.1:n.615G=
NM_000352.4:c.2501G= NP_000343.2:p.Arg834=
NM_001287174.1:c.2504G= NP_001274103.1:p.Arg835=
XM_011520331.1:c.2501G= XP_011518633.1:p.Arg834=
XM_011520332.1:c.2504G= XP_011518634.1:p.Arg835=
XM_011520333.1:c.1001G= XP_011518635.1:p.Arg334=
XM_011520334.1:c.2504G= XP_011518636.1:p.Arg835=
XR_930890.1:n.2567G=
XR_930891.1:n.2567G=
XR_930892.1:n.2567G=
XR_930893.1:n.2564G=
NM_001351295.1:c.2567G= NP_001338224.1:p.Arg856=
NM_001351296.1:c.2501G= NP_001338225.1:p.Arg834=
NM_001351297.1:c.2498G= NP_001338226.1:p.Arg833=
NR_147094.1:n.2570G=
XM_017018197.2:c.2570G= XP_016873686.1:p.Arg857=
XM_017018199.1:c.2567G= XP_016873688.1:p.Arg856=
XM_017018201.2:c.2570G= XP_016873690.1:p.Arg857=
XM_017018202.1:c.1067G= XP_016873691.1:p.Arg356=
XM_017018204.1:c.458G= XP_016873693.1:p.Arg153=
XM_024448668.1:c.869G= XP_024304436.1:p.Arg290=
XR_001747945.2:n.2642G=
XR_001747946.2:n.2573G=
XR_002957189.1:n.2642G=
NM_000352.6:c.2501G= MANE Select NP_000343.2:p.Arg834=
NM_001287174.2:c.2504G= NP_001274103.1:p.Arg835=
NM_001351295.2:c.2567G= NP_001338224.1:p.Arg856=
NM_001351296.2:c.2501G= NP_001338225.1:p.Arg834=
NM_001351297.2:c.2498G= NP_001338226.1:p.Arg833=
NR_147094.2:n.2570G=
NM_001287174.3:c.2504G= NP_001274103.1:p.Arg835=