Canonical Allele Identifier: CA379805289
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1954646086

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17408467G>C , CM000673.2:g.17408467G>C GRCh38
NC_000011.9:g.17430014G>C , CM000673.1:g.17430014G>C GRCh37
NC_000011.8:g.17386590G>C NCBI36
NG_008867.1:g.73436C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2414C>G
ENST00000529967.6:n.1004C>G
ENST00000532220.2:n.477C>G
ENST00000642611.2:n.2814C>G
ENST00000682051.1:n.2761C>G
ENST00000682110.1:n.2814C>G
ENST00000682140.1:c.2742C>G ENSP00000507829.1:p.Asp914Glu
ENST00000682185.1:n.4050C>G
ENST00000682204.1:c.*883C>G ENSP00000507094.1:n.*883C>G
ENST00000682215.1:n.2811C>G
ENST00000682288.1:c.*1176C>G ENSP00000507506.1:n.*1176C>G
ENST00000682442.1:n.2935C>G
ENST00000682528.1:n.2811C>G
ENST00000682673.1:n.2758C>G
ENST00000682805.1:n.2811C>G
ENST00000682965.1:c.2742C>G ENSP00000508229.1:p.Asp914Glu
ENST00000683093.1:n.2913C>G
ENST00000683136.1:c.2742C>G ENSP00000507768.1:p.Asp914Glu
ENST00000683153.1:n.2970C>G
ENST00000683365.1:n.2916C>G
ENST00000683377.1:n.2814C>G
ENST00000683456.1:c.2745C>G ENSP00000508318.1:p.Asp915Glu
ENST00000683522.1:n.2814C>G
ENST00000683562.1:c.*914C>G ENSP00000508265.1:n.*914C>G
ENST00000683693.1:n.2811C>G
ENST00000683725.1:c.2745C>G ENSP00000507496.1:p.Asp915Glu
ENST00000684010.1:n.2729C>G
ENST00000684157.1:n.2814C>G
ENST00000684253.1:n.2717C>G
ENST00000684288.1:c.*917C>G ENSP00000507143.1:n.*917C>G
ENST00000684313.1:n.2246C>G
ENST00000684332.1:n.2887C>G
ENST00000684371.1:n.2920C>G
ENST00000684404.1:n.2811C>G
ENST00000684442.1:n.2814C>G
ENST00000684555.1:c.*957C>G ENSP00000507705.1:n.*957C>G
ENST00000684571.1:c.2586C>G ENSP00000506935.1:p.Asp862Glu
ENST00000684593.1:c.*2450C>G ENSP00000507005.1:n.*2450C>G
ENST00000684711.1:c.*1141C>G ENSP00000506841.1:n.*1141C>G
ENST00000302539.9:c.2748C>G ENSP00000303960.4:p.Asp916Glu
ENST00000389817.8:c.2745C>G MANE Select ENSP00000374467.4:p.Asp915Glu
ENST00000642271.1:c.2742C>G ENSP00000493749.1:p.Asp914Glu
ENST00000642579.1:c.829C>G
ENST00000642611.1:n.2699C>G
ENST00000642902.1:c.2580C>G
ENST00000643260.1:c.2745C>G ENSP00000494450.1:p.Asp915Glu
ENST00000643562.1:c.*721C>G ENSP00000496124.1:n.*721C>G
ENST00000643925.1:c.789C>G
ENST00000644447.1:c.1101C>G ENSP00000496282.1:p.Asp367Glu
ENST00000644472.1:c.*1106C>G ENSP00000495378.1:n.*1106C>G
ENST00000644484.1:c.*954C>G ENSP00000493558.1:n.*954C>G
ENST00000644542.1:c.*2450C>G ENSP00000495532.1:n.*2450C>G
ENST00000644675.1:c.*917C>G ENSP00000494567.1:n.*917C>G
ENST00000644757.1:c.*1050C>G ENSP00000495085.1:n.*1050C>G
ENST00000644772.1:c.2811C>G ENSP00000494321.1:p.Asp937Glu
ENST00000645076.1:c.1997C>G
ENST00000645744.1:c.*1109C>G ENSP00000494564.1:n.*1109C>G
ENST00000645760.1:c.3020C>G
ENST00000645884.1:c.2745C>G ENSP00000495516.1:p.Asp915Glu
ENST00000646003.1:c.*801C>G ENSP00000495259.1:n.*801C>G
ENST00000646207.1:c.*1109C>G ENSP00000495025.1:n.*1109C>G
ENST00000646276.1:c.*1018C>G ENSP00000496070.1:n.*1018C>G
ENST00000646592.1:c.1971C>G
ENST00000646902.1:c.2742C>G ENSP00000494101.1:p.Asp914Glu
ENST00000646993.1:c.*1141C>G ENSP00000493720.1:n.*1141C>G
ENST00000647013.1:c.2751C>G ENSP00000496741.1:n.2751C>G
ENST00000647015.1:c.2496C>G ENSP00000495389.1:p.Asp832Glu
ENST00000647086.1:c.*2475C>G ENSP00000493677.1:n.*2475C>G
ENST00000647158.1:c.*886C>G ENSP00000495744.1:n.*886C>G
ENST00000302539.8:c.2748C>G ENSP00000303960.4:p.Asp916Glu
ENST00000389817.7:c.2745C>G ENSP00000374467.3:p.Asp915Glu
ENST00000526921.5:n.429C>G
ENST00000527905.5:c.2715C>G ENSP00000431653.1:p.Asp905Glu
ENST00000529967.5:n.414C>G
NM_000352.4:c.2745C>G NP_000343.2:p.Asp915Glu
NM_001287174.1:c.2748C>G NP_001274103.1:p.Asp916Glu
XM_011520331.1:c.2745C>G XP_011518633.1:p.Asp915Glu
XM_011520332.1:c.2748C>G XP_011518634.1:p.Asp916Glu
XM_011520333.1:c.1245C>G XP_011518635.1:p.Asp415Glu
XM_011520334.1:c.2748C>G XP_011518636.1:p.Asp916Glu
XR_930890.1:n.2811C>G
XR_930891.1:n.2811C>G
XR_930892.1:n.2811C>G
XR_930893.1:n.2808C>G
NM_001351295.1:c.2811C>G NP_001338224.1:p.Asp937Glu
NM_001351296.1:c.2745C>G NP_001338225.1:p.Asp915Glu
NM_001351297.1:c.2742C>G NP_001338226.1:p.Asp914Glu
NR_147094.1:n.2814C>G
XM_017018197.2:c.2814C>G XP_016873686.1:p.Asp938Glu
XM_017018199.1:c.2811C>G XP_016873688.1:p.Asp937Glu
XM_017018201.2:c.2814C>G XP_016873690.1:p.Asp938Glu
XM_017018202.1:c.1311C>G XP_016873691.1:p.Asp437Glu
XM_017018204.1:c.702C>G XP_016873693.1:p.Asp234Glu
XM_024448668.1:c.1113C>G XP_024304436.1:p.Asp371Glu
XR_001747945.2:n.2886C>G
XR_001747946.2:n.2817C>G
XR_002957189.1:n.2886C>G
NM_000352.6:c.2745C>G MANE Select NP_000343.2:p.Asp915Glu
NM_001287174.2:c.2748C>G NP_001274103.1:p.Asp916Glu
NM_001351295.2:c.2811C>G NP_001338224.1:p.Asp937Glu
NM_001351296.2:c.2745C>G NP_001338225.1:p.Asp915Glu
NM_001351297.2:c.2742C>G NP_001338226.1:p.Asp914Glu
NR_147094.2:n.2814C>G
NM_001287174.3:c.2748C>G NP_001274103.1:p.Asp916Glu