Canonical Allele Identifier: CA379783518
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 551204
dbSNP Id: rs1554904107

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394365G>T , CM000673.2:g.17394365G>T GRCh38
NC_000011.9:g.17415912G>T , CM000673.1:g.17415912G>T GRCh37
NC_000011.8:g.17372488G>T NCBI36
NG_008867.1:g.87538C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4047C>A
ENST00000526037.6:n.381C>A
ENST00000528374.2:c.1037C>A
ENST00000529967.6:n.2785C>A
ENST00000532220.2:n.3679C>A
ENST00000642611.2:n.5779C>A
ENST00000644057.2:n.1022C>A
ENST00000645004.2:n.1945C>A
ENST00000682051.1:n.4608C>A
ENST00000682110.1:n.4661C>A
ENST00000682140.1:c.*232C>A ENSP00000507829.1:n.*232C>A
ENST00000682185.1:n.5751C>A
ENST00000682204.1:c.*2584C>A ENSP00000507094.1:n.*2584C>A
ENST00000682215.1:n.5028C>A
ENST00000682288.1:c.*2877C>A ENSP00000507506.1:n.*2877C>A
ENST00000682442.1:n.4881C>A
ENST00000682528.1:n.4738C>A
ENST00000682673.1:n.4605C>A
ENST00000682805.1:n.5066C>A
ENST00000682965.1:c.*868C>A ENSP00000508229.1:n.*868C>A
ENST00000683093.1:n.5641C>A
ENST00000683136.1:c.4329C>A ENSP00000507768.1:p.Ser1443Arg
ENST00000683153.1:n.4703C>A
ENST00000683365.1:n.4763C>A
ENST00000683377.1:n.4557C>A
ENST00000683456.1:c.*1583C>A ENSP00000508318.1:n.*1583C>A
ENST00000683522.1:n.4743C>A
ENST00000683562.1:c.*2511C>A ENSP00000508265.1:n.*2511C>A
ENST00000683693.1:n.6122C>A
ENST00000683725.1:c.4342C>A ENSP00000507496.1:p.Pro1448Thr
ENST00000684010.1:n.4656C>A
ENST00000684014.1:n.633C>A
ENST00000684157.1:n.5646C>A
ENST00000684253.1:n.4564C>A
ENST00000684288.1:c.*2618C>A ENSP00000507143.1:n.*2618C>A
ENST00000684313.1:n.4093C>A
ENST00000684332.1:n.4734C>A
ENST00000684371.1:n.4767C>A
ENST00000684404.1:n.5689C>A
ENST00000684442.1:n.4885C>A
ENST00000684555.1:c.*2658C>A ENSP00000507705.1:n.*2658C>A
ENST00000684571.1:c.4287C>A ENSP00000506935.1:p.Ser1429Arg
ENST00000684593.1:c.*4151C>A ENSP00000507005.1:n.*4151C>A
ENST00000684711.1:c.*2842C>A ENSP00000506841.1:n.*2842C>A
ENST00000302539.9:c.4449C>A ENSP00000303960.4:p.Ser1483Arg
ENST00000389817.8:c.4446C>A MANE Select ENSP00000374467.4:p.Ser1482Arg
ENST00000642271.1:c.4443C>A ENSP00000493749.1:p.Ser1481Arg
ENST00000642579.1:c.2500C>A
ENST00000642611.1:n.5664C>A
ENST00000642902.1:c.4228C>A
ENST00000643260.1:c.4446C>A ENSP00000494450.1:p.Ser1482Arg
ENST00000643562.1:c.*2568C>A ENSP00000496124.1:n.*2568C>A
ENST00000643925.1:c.3086C>A
ENST00000644057.1:n.605C>A
ENST00000644484.1:c.*3832C>A ENSP00000493558.1:n.*3832C>A
ENST00000644675.1:c.*2618C>A ENSP00000494567.1:n.*2618C>A
ENST00000644757.1:c.*3203-1385C>A ENSP00000495085.1:n.*3203-1385C>A
ENST00000644772.1:c.4512C>A ENSP00000494321.1:p.Ser1504Arg
ENST00000645004.1:n.2139C>A
ENST00000645076.1:c.3541C>A
ENST00000645417.1:c.1634C>A
ENST00000645744.1:c.*4131C>A ENSP00000494564.1:n.*4131C>A
ENST00000645760.1:c.4867C>A
ENST00000645884.1:c.*1729C>A ENSP00000495516.1:n.*1729C>A
ENST00000646003.1:c.*2468C>A ENSP00000495259.1:n.*2468C>A
ENST00000646207.1:c.*3283C>A ENSP00000495025.1:n.*3283C>A
ENST00000646276.1:c.*3850C>A ENSP00000496070.1:n.*3850C>A
ENST00000646592.1:c.3752C>A
ENST00000646902.1:c.4413C>A ENSP00000494101.1:p.Ser1471Arg
ENST00000646993.1:c.*2884C>A ENSP00000493720.1:n.*2884C>A
ENST00000647013.1:c.4452C>A ENSP00000496741.1:n.4452C>A
ENST00000647015.1:c.4197C>A ENSP00000495389.1:p.Ser1399Arg
ENST00000647086.1:c.*4032C>A ENSP00000493677.1:n.*4032C>A
ENST00000647158.1:c.*2733C>A ENSP00000495744.1:n.*2733C>A
ENST00000302539.8:c.4449C>A ENSP00000303960.4:p.Ser1483Arg
ENST00000389817.7:c.4446C>A ENSP00000374467.3:p.Ser1482Arg
ENST00000525022.1:n.341C>A
ENST00000526037.5:n.206C>A
ENST00000526168.5:c.234C>A
ENST00000531642.5:c.477C>A
NM_000352.4:c.4446C>A NP_000343.2:p.Ser1482Arg
NM_001287174.1:c.4449C>A NP_001274103.1:p.Ser1483Arg
XM_011520331.1:c.4446C>A XP_011518633.1:p.Ser1482Arg
XM_011520332.1:c.4345C>A XP_011518634.1:p.Pro1449Thr
XM_011520333.1:c.2946C>A XP_011518635.1:p.Ser982Arg
XR_930890.1:n.4408C>A
NM_001351295.1:c.4512C>A NP_001338224.1:p.Ser1504Arg
NM_001351296.1:c.4446C>A NP_001338225.1:p.Ser1482Arg
NM_001351297.1:c.4443C>A NP_001338226.1:p.Ser1481Arg
NR_147094.1:n.4741C>A
XM_017018197.2:c.4515C>A XP_016873686.1:p.Ser1505Arg
XM_017018199.1:c.4512C>A XP_016873688.1:p.Ser1504Arg
XM_017018201.2:c.4411C>A XP_016873690.1:p.Pro1471Thr
XM_017018202.1:c.3012C>A XP_016873691.1:p.Ser1004Arg
XM_017018204.1:c.2403C>A XP_016873693.1:p.Ser801Arg
XM_024448668.1:c.2814C>A XP_024304436.1:p.Ser938Arg
XR_001747945.2:n.4483C>A
XR_001747946.2:n.4414C>A
XR_002957189.1:n.6197C>A
NM_000352.6:c.4446C>A MANE Select NP_000343.2:p.Ser1482Arg
NM_001287174.2:c.4449C>A NP_001274103.1:p.Ser1483Arg
NM_001351295.2:c.4512C>A NP_001338224.1:p.Ser1504Arg
NM_001351296.2:c.4446C>A NP_001338225.1:p.Ser1482Arg
NM_001351297.2:c.4443C>A NP_001338226.1:p.Ser1481Arg
NR_147094.2:n.4741C>A
NM_001287174.3:c.4449C>A NP_001274103.1:p.Ser1483Arg