Canonical Allele Identifier: CA1955131317
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412672G= , CM000673.2:g.17412672G= GRCh38
NC_000011.9:g.17434219G= , CM000673.1:g.17434219G= GRCh37
NC_000011.8:g.17390795G= NCBI36
NG_008867.1:g.69231C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2219C=
ENST00000529967.6:n.809C=
ENST00000642611.2:n.2619C=
ENST00000682051.1:n.2566C=
ENST00000682110.1:n.2619C=
ENST00000682140.1:c.2547C= ENSP00000507829.1:p.Val849=
ENST00000682185.1:n.3855C=
ENST00000682204.1:c.*688C= ENSP00000507094.1:n.*688C=
ENST00000682215.1:n.2616C=
ENST00000682288.1:c.*981C= ENSP00000507506.1:n.*981C=
ENST00000682442.1:n.2740C=
ENST00000682528.1:n.2616C=
ENST00000682673.1:n.2563C=
ENST00000682805.1:n.2616C=
ENST00000682965.1:c.2547C= ENSP00000508229.1:p.Val849=
ENST00000683093.1:n.2718C=
ENST00000683136.1:c.2547C= ENSP00000507768.1:p.Val849=
ENST00000683153.1:n.2775C=
ENST00000683365.1:n.2721C=
ENST00000683377.1:n.2619C=
ENST00000683456.1:c.2550C= ENSP00000508318.1:p.Val850=
ENST00000683522.1:n.2619C=
ENST00000683562.1:c.*719C= ENSP00000508265.1:n.*719C=
ENST00000683693.1:n.2616C=
ENST00000683725.1:c.2550C= ENSP00000507496.1:p.Val850=
ENST00000684010.1:n.2534C=
ENST00000684157.1:n.2619C=
ENST00000684253.1:n.2522C=
ENST00000684288.1:c.*722C= ENSP00000507143.1:n.*722C=
ENST00000684313.1:n.2051C=
ENST00000684332.1:n.2692C=
ENST00000684371.1:n.2725C=
ENST00000684404.1:n.2616C=
ENST00000684442.1:n.2619C=
ENST00000684555.1:c.*762C= ENSP00000507705.1:n.*762C=
ENST00000684571.1:c.2391C= ENSP00000506935.1:p.Val797=
ENST00000684593.1:c.*2255C= ENSP00000507005.1:n.*2255C=
ENST00000684711.1:c.*946C= ENSP00000506841.1:n.*946C=
ENST00000302539.9:c.2553C= ENSP00000303960.4:p.Val851=
ENST00000389817.8:c.2550C= MANE Select ENSP00000374467.4:p.Val850=
ENST00000642271.1:c.2547C= ENSP00000493749.1:p.Val849=
ENST00000642579.1:c.634C=
ENST00000642611.1:n.2504C=
ENST00000642902.1:c.2385C=
ENST00000643260.1:c.2550C= ENSP00000494450.1:p.Val850=
ENST00000643562.1:c.*526C= ENSP00000496124.1:n.*526C=
ENST00000643925.1:c.594C=
ENST00000644447.1:c.906C= ENSP00000496282.1:p.Val302=
ENST00000644472.1:c.*911C= ENSP00000495378.1:n.*911C=
ENST00000644484.1:c.*759C= ENSP00000493558.1:n.*759C=
ENST00000644542.1:c.*2255C= ENSP00000495532.1:n.*2255C=
ENST00000644675.1:c.*722C= ENSP00000494567.1:n.*722C=
ENST00000644757.1:c.*855C= ENSP00000495085.1:n.*855C=
ENST00000644772.1:c.2616C= ENSP00000494321.1:p.Val872=
ENST00000645076.1:c.1802C=
ENST00000645744.1:c.*914C= ENSP00000494564.1:n.*914C=
ENST00000645760.1:c.2825C=
ENST00000645884.1:c.2550C= ENSP00000495516.1:p.Val850=
ENST00000646003.1:c.*606C= ENSP00000495259.1:n.*606C=
ENST00000646207.1:c.*914C= ENSP00000495025.1:n.*914C=
ENST00000646276.1:c.*823C= ENSP00000496070.1:n.*823C=
ENST00000646592.1:c.1776C=
ENST00000646902.1:c.2547C= ENSP00000494101.1:p.Val849=
ENST00000646993.1:c.*946C= ENSP00000493720.1:n.*946C=
ENST00000647013.1:c.2556C= ENSP00000496741.1:n.2556C=
ENST00000647015.1:c.2301C= ENSP00000495389.1:p.Val767=
ENST00000647086.1:c.*2280C= ENSP00000493677.1:n.*2280C=
ENST00000647158.1:c.*691C= ENSP00000495744.1:n.*691C=
ENST00000302539.8:c.2553C= ENSP00000303960.4:p.Val851=
ENST00000389817.7:c.2550C= ENSP00000374467.3:p.Val850=
ENST00000526921.5:n.234C=
ENST00000527905.5:c.2520C= ENSP00000431653.1:p.Val840=
ENST00000529967.5:n.219C=
ENST00000530147.5:n.133C=
ENST00000531911.1:n.664C=
NM_000352.4:c.2550C= NP_000343.2:p.Val850=
NM_001287174.1:c.2553C= NP_001274103.1:p.Val851=
XM_011520331.1:c.2550C= XP_011518633.1:p.Val850=
XM_011520332.1:c.2553C= XP_011518634.1:p.Val851=
XM_011520333.1:c.1050C= XP_011518635.1:p.Val350=
XM_011520334.1:c.2553C= XP_011518636.1:p.Val851=
XR_930890.1:n.2616C=
XR_930891.1:n.2616C=
XR_930892.1:n.2616C=
XR_930893.1:n.2613C=
NM_001351295.1:c.2616C= NP_001338224.1:p.Val872=
NM_001351296.1:c.2550C= NP_001338225.1:p.Val850=
NM_001351297.1:c.2547C= NP_001338226.1:p.Val849=
NR_147094.1:n.2619C=
XM_017018197.2:c.2619C= XP_016873686.1:p.Val873=
XM_017018199.1:c.2616C= XP_016873688.1:p.Val872=
XM_017018201.2:c.2619C= XP_016873690.1:p.Val873=
XM_017018202.1:c.1116C= XP_016873691.1:p.Val372=
XM_017018204.1:c.507C= XP_016873693.1:p.Val169=
XM_024448668.1:c.918C= XP_024304436.1:p.Val306=
XR_001747945.2:n.2691C=
XR_001747946.2:n.2622C=
XR_002957189.1:n.2691C=
NM_000352.6:c.2550C= MANE Select NP_000343.2:p.Val850=
NM_001287174.2:c.2553C= NP_001274103.1:p.Val851=
NM_001351295.2:c.2616C= NP_001338224.1:p.Val872=
NM_001351296.2:c.2550C= NP_001338225.1:p.Val850=
NM_001351297.2:c.2547C= NP_001338226.1:p.Val849=
NR_147094.2:n.2619C=
NM_001287174.3:c.2553C= NP_001274103.1:p.Val851=