Canonical Allele Identifier: CA1955123948
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397040G= , CM000673.2:g.17397040G= GRCh38
NC_000011.9:g.17418587G= , CM000673.1:g.17418587G= GRCh37
NC_000011.8:g.17375163G= NCBI36
NG_008867.1:g.84863C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3596C=
ENST00000528374.2:c.586C=
ENST00000529967.6:n.2334C=
ENST00000532220.2:n.2243C=
ENST00000642611.2:n.4210C=
ENST00000644057.2:n.438C=
ENST00000645004.2:n.1494C=
ENST00000682051.1:n.4157C=
ENST00000682110.1:n.4210C=
ENST00000682140.1:c.3985+153C= ENSP00000507829.1:n.3985+153C=
ENST00000682185.1:n.5300C=
ENST00000682204.1:c.*2133C= ENSP00000507094.1:n.*2133C=
ENST00000682215.1:n.4577C=
ENST00000682288.1:c.*2426C= ENSP00000507506.1:n.*2426C=
ENST00000682442.1:n.4430C=
ENST00000682528.1:n.4287C=
ENST00000682673.1:n.4154C=
ENST00000682805.1:n.4577C=
ENST00000682965.1:c.*417C= ENSP00000508229.1:n.*417C=
ENST00000683093.1:n.4309C=
ENST00000683136.1:c.3878C= ENSP00000507768.1:p.Ser1293=
ENST00000683153.1:n.4252C=
ENST00000683365.1:n.4312C=
ENST00000683377.1:n.4210C=
ENST00000683456.1:c.*1132C= ENSP00000508318.1:n.*1132C=
ENST00000683522.1:n.4210C=
ENST00000683562.1:c.*2164C= ENSP00000508265.1:n.*2164C=
ENST00000683693.1:n.4657C=
ENST00000683725.1:c.3995C= ENSP00000507496.1:p.Ser1332=
ENST00000684010.1:n.4205C=
ENST00000684157.1:n.4210C=
ENST00000684253.1:n.4113C=
ENST00000684288.1:c.*2167C= ENSP00000507143.1:n.*2167C=
ENST00000684313.1:n.3642C=
ENST00000684332.1:n.4283C=
ENST00000684371.1:n.4316C=
ENST00000684404.1:n.4253C=
ENST00000684442.1:n.4434C=
ENST00000684555.1:c.*2207C= ENSP00000507705.1:n.*2207C=
ENST00000684571.1:c.3836C= ENSP00000506935.1:p.Ser1279=
ENST00000684593.1:c.*3700C= ENSP00000507005.1:n.*3700C=
ENST00000684711.1:c.*2391C= ENSP00000506841.1:n.*2391C=
ENST00000302539.9:c.3998C= ENSP00000303960.4:p.Ser1333=
ENST00000389817.8:c.3995C= MANE Select ENSP00000374467.4:p.Ser1332=
ENST00000642271.1:c.3992C= ENSP00000493749.1:p.Ser1331=
ENST00000642579.1:c.2073-24C=
ENST00000642611.1:n.4095C=
ENST00000642902.1:c.3777C=
ENST00000643260.1:c.3995C= ENSP00000494450.1:p.Ser1332=
ENST00000643562.1:c.*2117C= ENSP00000496124.1:n.*2117C=
ENST00000643925.1:c.2635C=
ENST00000644057.1:n.72C=
ENST00000644484.1:c.*2396C= ENSP00000493558.1:n.*2396C=
ENST00000644675.1:c.*2167C= ENSP00000494567.1:n.*2167C=
ENST00000644757.1:c.*2426C= ENSP00000495085.1:n.*2426C=
ENST00000644772.1:c.4061C= ENSP00000494321.1:p.Ser1354=
ENST00000645004.1:n.1650C=
ENST00000645076.1:c.3194C=
ENST00000645417.1:c.1183C=
ENST00000645744.1:c.*2775C= ENSP00000494564.1:n.*2775C=
ENST00000645760.1:c.4416C=
ENST00000645884.1:c.*1278C= ENSP00000495516.1:n.*1278C=
ENST00000646003.1:c.*2097C= ENSP00000495259.1:n.*2097C=
ENST00000646207.1:c.*2832C= ENSP00000495025.1:n.*2832C=
ENST00000646276.1:c.*2414C= ENSP00000496070.1:n.*2414C=
ENST00000646592.1:c.3301C=
ENST00000646902.1:c.3986-24C= ENSP00000494101.1:n.3986-24C=
ENST00000646993.1:c.*2537C= ENSP00000493720.1:n.*2537C=
ENST00000647013.1:c.4001C= ENSP00000496741.1:n.4001C=
ENST00000647015.1:c.3746C= ENSP00000495389.1:p.Ser1249=
ENST00000647086.1:c.*3605-24C= ENSP00000493677.1:n.*3605-24C=
ENST00000647158.1:c.*2282C= ENSP00000495744.1:n.*2282C=
ENST00000302539.8:c.3998C= ENSP00000303960.4:p.Ser1333=
ENST00000389817.7:c.3995C= ENSP00000374467.3:p.Ser1332=
ENST00000527905.5:c.*1017C= ENSP00000431653.1:n.*1017C=
ENST00000528374.1:c.477C=
ENST00000531137.1:n.560C=
ENST00000531891.1:c.357-24C=
ENST00000532220.1:n.469C=
NM_000352.4:c.3995C= NP_000343.2:p.Ser1332=
NM_001287174.1:c.3998C= NP_001274103.1:p.Ser1333=
XM_011520331.1:c.3995C= XP_011518633.1:p.Ser1332=
XM_011520332.1:c.3998C= XP_011518634.1:p.Ser1333=
XM_011520333.1:c.2495C= XP_011518635.1:p.Ser832=
XR_930890.1:n.4061C=
NM_001351295.1:c.4061C= NP_001338224.1:p.Ser1354=
NM_001351296.1:c.3995C= NP_001338225.1:p.Ser1332=
NM_001351297.1:c.3992C= NP_001338226.1:p.Ser1331=
NR_147094.1:n.4290C=
XM_017018197.2:c.4064C= XP_016873686.1:p.Ser1355=
XM_017018199.1:c.4061C= XP_016873688.1:p.Ser1354=
XM_017018201.2:c.4064C= XP_016873690.1:p.Ser1355=
XM_017018202.1:c.2561C= XP_016873691.1:p.Ser854=
XM_017018204.1:c.1952C= XP_016873693.1:p.Ser651=
XM_024448668.1:c.2363C= XP_024304436.1:p.Ser788=
XR_001747945.2:n.4136C=
XR_001747946.2:n.4067C=
XR_002957189.1:n.4732C=
NM_000352.6:c.3995C= MANE Select NP_000343.2:p.Ser1332=
NM_001287174.2:c.3998C= NP_001274103.1:p.Ser1333=
NM_001351295.2:c.4061C= NP_001338224.1:p.Ser1354=
NM_001351296.2:c.3995C= NP_001338225.1:p.Ser1332=
NM_001351297.2:c.3992C= NP_001338226.1:p.Ser1331=
NR_147094.2:n.4290C=
NM_001287174.3:c.3998C= NP_001274103.1:p.Ser1333=