Canonical Allele Identifier: CA1955123243
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395663G= , CM000673.2:g.17395663G= GRCh38
NC_000011.9:g.17417210G= , CM000673.1:g.17417210G= GRCh37
NC_000011.8:g.17373786G= NCBI36
NG_008867.1:g.86240C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3855C=
ENST00000528374.2:c.845C=
ENST00000529967.6:n.2593C=
ENST00000532220.2:n.3487C=
ENST00000642611.2:n.5587C=
ENST00000644057.2:n.830C=
ENST00000645004.2:n.1753C=
ENST00000682051.1:n.4416C=
ENST00000682110.1:n.4469C=
ENST00000682140.1:c.*40C= ENSP00000507829.1:n.*40C=
ENST00000682185.1:n.5559C=
ENST00000682204.1:c.*2392C= ENSP00000507094.1:n.*2392C=
ENST00000682215.1:n.4836C=
ENST00000682288.1:c.*2685C= ENSP00000507506.1:n.*2685C=
ENST00000682442.1:n.4689C=
ENST00000682528.1:n.4546C=
ENST00000682673.1:n.4413C=
ENST00000682805.1:n.4874C=
ENST00000682965.1:c.*676C= ENSP00000508229.1:n.*676C=
ENST00000683093.1:n.5553C=
ENST00000683136.1:c.4137C= ENSP00000507768.1:p.Arg1379=
ENST00000683153.1:n.4511C=
ENST00000683365.1:n.4571C=
ENST00000683377.1:n.4469C=
ENST00000683456.1:c.*1391C= ENSP00000508318.1:n.*1391C=
ENST00000683522.1:n.4469C=
ENST00000683562.1:c.*2423C= ENSP00000508265.1:n.*2423C=
ENST00000683693.1:n.6034C=
ENST00000683725.1:c.4254C= ENSP00000507496.1:p.Arg1418=
ENST00000684010.1:n.4464C=
ENST00000684157.1:n.5454C=
ENST00000684253.1:n.4372C=
ENST00000684288.1:c.*2426C= ENSP00000507143.1:n.*2426C=
ENST00000684313.1:n.3901C=
ENST00000684332.1:n.4542C=
ENST00000684371.1:n.4575C=
ENST00000684404.1:n.5497C=
ENST00000684442.1:n.4693C=
ENST00000684555.1:c.*2466C= ENSP00000507705.1:n.*2466C=
ENST00000684571.1:c.4095C= ENSP00000506935.1:p.Arg1365=
ENST00000684593.1:c.*3959C= ENSP00000507005.1:n.*3959C=
ENST00000684711.1:c.*2650C= ENSP00000506841.1:n.*2650C=
ENST00000302539.9:c.4257C= ENSP00000303960.4:p.Arg1419=
ENST00000389817.8:c.4254C= MANE Select ENSP00000374467.4:p.Arg1418=
ENST00000642271.1:c.4251C= ENSP00000493749.1:p.Arg1417=
ENST00000642579.1:c.2308C=
ENST00000642611.1:n.5472C=
ENST00000642902.1:c.4036C=
ENST00000643260.1:c.4254C= ENSP00000494450.1:p.Arg1418=
ENST00000643562.1:c.*2376C= ENSP00000496124.1:n.*2376C=
ENST00000643925.1:c.2894C=
ENST00000644057.1:n.331C=
ENST00000644484.1:c.*3640C= ENSP00000493558.1:n.*3640C=
ENST00000644675.1:c.*2426C= ENSP00000494567.1:n.*2426C=
ENST00000644757.1:c.*3202+601C= ENSP00000495085.1:n.*3202+601C=
ENST00000644772.1:c.4320C= ENSP00000494321.1:p.Arg1440=
ENST00000645004.1:n.1947C=
ENST00000645076.1:c.3453C=
ENST00000645417.1:c.1442C=
ENST00000645744.1:c.*3964-25C= ENSP00000494564.1:n.*3964-25C=
ENST00000645760.1:c.4675C=
ENST00000645884.1:c.*1537C= ENSP00000495516.1:n.*1537C=
ENST00000646003.1:c.*2301-25C= ENSP00000495259.1:n.*2301-25C=
ENST00000646207.1:c.*3091C= ENSP00000495025.1:n.*3091C=
ENST00000646276.1:c.*3658C= ENSP00000496070.1:n.*3658C=
ENST00000646592.1:c.3560C=
ENST00000646902.1:c.4221C= ENSP00000494101.1:p.Arg1407=
ENST00000646993.1:c.*2796C= ENSP00000493720.1:n.*2796C=
ENST00000647013.1:c.4260C= ENSP00000496741.1:n.4260C=
ENST00000647015.1:c.4005C= ENSP00000495389.1:p.Arg1335=
ENST00000647086.1:c.*3840C= ENSP00000493677.1:n.*3840C=
ENST00000647158.1:c.*2541C= ENSP00000495744.1:n.*2541C=
ENST00000302539.8:c.4257C= ENSP00000303960.4:p.Arg1419=
ENST00000389817.7:c.4254C= ENSP00000374467.3:p.Arg1418=
ENST00000525022.1:n.253C=
ENST00000526037.5:n.118C=
ENST00000526168.5:c.67-25C=
ENST00000531642.5:c.90C=
NM_000352.4:c.4254C= NP_000343.2:p.Arg1418=
NM_001287174.1:c.4257C= NP_001274103.1:p.Arg1419=
XM_011520331.1:c.4254C= XP_011518633.1:p.Arg1418=
XM_011520332.1:c.4257C= XP_011518634.1:p.Arg1419=
XM_011520333.1:c.2754C= XP_011518635.1:p.Arg918=
XR_930890.1:n.4320C=
NM_001351295.1:c.4320C= NP_001338224.1:p.Arg1440=
NM_001351296.1:c.4254C= NP_001338225.1:p.Arg1418=
NM_001351297.1:c.4251C= NP_001338226.1:p.Arg1417=
NR_147094.1:n.4549C=
XM_017018197.2:c.4323C= XP_016873686.1:p.Arg1441=
XM_017018199.1:c.4320C= XP_016873688.1:p.Arg1440=
XM_017018201.2:c.4323C= XP_016873690.1:p.Arg1441=
XM_017018202.1:c.2820C= XP_016873691.1:p.Arg940=
XM_017018204.1:c.2211C= XP_016873693.1:p.Arg737=
XM_024448668.1:c.2622C= XP_024304436.1:p.Arg874=
XR_001747945.2:n.4395C=
XR_001747946.2:n.4326C=
XR_002957189.1:n.6109C=
NM_000352.6:c.4254C= MANE Select NP_000343.2:p.Arg1418=
NM_001287174.2:c.4257C= NP_001274103.1:p.Arg1419=
NM_001351295.2:c.4320C= NP_001338224.1:p.Arg1440=
NM_001351296.2:c.4254C= NP_001338225.1:p.Arg1418=
NM_001351297.2:c.4251C= NP_001338226.1:p.Arg1417=
NR_147094.2:n.4549C=
NM_001287174.3:c.4257C= NP_001274103.1:p.Arg1419=