Canonical Allele Identifier: CA1955138399
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17428300A= , CM000673.2:g.17428300A= GRCh38
NC_000011.9:g.17449847A= , CM000673.1:g.17449847A= GRCh37
NC_000011.8:g.17406423A= NCBI36
NG_008867.1:g.53603T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1698T=
ENST00000529967.6:n.288T=
ENST00000642611.2:n.2095T=
ENST00000682051.1:n.2042T=
ENST00000682110.1:n.2095T=
ENST00000682140.1:c.2026T= ENSP00000507829.1:p.Cys676=
ENST00000682185.1:n.3334T=
ENST00000682204.1:c.*167T= ENSP00000507094.1:n.*167T=
ENST00000682215.1:n.2095T=
ENST00000682288.1:c.*457T= ENSP00000507506.1:n.*457T=
ENST00000682442.1:n.2216T=
ENST00000682528.1:n.2095T=
ENST00000682673.1:n.2042T=
ENST00000682805.1:n.2095T=
ENST00000682965.1:c.2026T= ENSP00000508229.1:p.Cys676=
ENST00000683093.1:n.2197T=
ENST00000683136.1:c.2026T= ENSP00000507768.1:p.Cys676=
ENST00000683153.1:n.2254T=
ENST00000683253.1:n.3111T=
ENST00000683365.1:n.2197T=
ENST00000683377.1:n.2095T=
ENST00000683456.1:c.2026T= ENSP00000508318.1:p.Cys676=
ENST00000683522.1:n.2095T=
ENST00000683562.1:c.*198T= ENSP00000508265.1:n.*198T=
ENST00000683693.1:n.2095T=
ENST00000683725.1:c.2029T= ENSP00000507496.1:p.Cys677=
ENST00000684010.1:n.2095T=
ENST00000684157.1:n.2095T=
ENST00000684253.1:n.2001T=
ENST00000684288.1:c.*198T= ENSP00000507143.1:n.*198T=
ENST00000684313.1:n.1724-11338T=
ENST00000684332.1:n.2168T=
ENST00000684371.1:n.2201T=
ENST00000684404.1:n.2095T=
ENST00000684442.1:n.2095T=
ENST00000684555.1:c.*238T= ENSP00000507705.1:n.*238T=
ENST00000684571.1:c.1870T= ENSP00000506935.1:p.Cys624=
ENST00000684593.1:c.*1734T= ENSP00000507005.1:n.*1734T=
ENST00000684711.1:c.*425T= ENSP00000506841.1:n.*425T=
ENST00000302539.9:c.2029T= ENSP00000303960.4:p.Cys677=
ENST00000389817.8:c.2029T= MANE Select ENSP00000374467.4:p.Cys677=
ENST00000532728.6:c.1610T=
ENST00000642271.1:c.2026T= ENSP00000493749.1:p.Cys676=
ENST00000642579.1:c.110T=
ENST00000642611.1:n.1980T=
ENST00000642902.1:c.1864T=
ENST00000643260.1:c.2026T= ENSP00000494450.1:p.Cys676=
ENST00000643562.1:c.*5T= ENSP00000496124.1:n.*5T=
ENST00000644447.1:c.382T= ENSP00000496282.1:p.Cys128=
ENST00000644472.1:c.*390T= ENSP00000495378.1:n.*390T=
ENST00000644484.1:c.*238T= ENSP00000493558.1:n.*238T=
ENST00000644542.1:c.*1731T= ENSP00000495532.1:n.*1731T=
ENST00000644649.1:c.1199T=
ENST00000644675.1:c.*198T= ENSP00000494567.1:n.*198T=
ENST00000644757.1:c.*331T= ENSP00000495085.1:n.*331T=
ENST00000644772.1:c.2095T= ENSP00000494321.1:p.Cys699=
ENST00000645076.1:c.1281T=
ENST00000645744.1:c.*390T= ENSP00000494564.1:n.*390T=
ENST00000645760.1:c.2304T=
ENST00000645884.1:c.2026T= ENSP00000495516.1:p.Cys676=
ENST00000646003.1:c.*167T= ENSP00000495259.1:n.*167T=
ENST00000646207.1:c.*390T= ENSP00000495025.1:n.*390T=
ENST00000646276.1:c.*299T= ENSP00000496070.1:n.*299T=
ENST00000646592.1:c.1252T=
ENST00000646902.1:c.2026T= ENSP00000494101.1:p.Cys676=
ENST00000646993.1:c.*425T= ENSP00000493720.1:n.*425T=
ENST00000647013.1:c.2032T= ENSP00000496741.1:n.2032T=
ENST00000647015.1:c.1777T= ENSP00000495389.1:p.Cys593=
ENST00000647086.1:c.*1756T= ENSP00000493677.1:n.*1756T=
ENST00000647158.1:c.*167T= ENSP00000495744.1:n.*167T=
ENST00000302539.8:c.2029T= ENSP00000303960.4:p.Cys677=
ENST00000389817.7:c.2029T= ENSP00000374467.3:p.Cys677=
ENST00000527905.5:c.1999T= ENSP00000431653.1:p.Cys667=
NM_000352.4:c.2029T= NP_000343.2:p.Cys677=
NM_001287174.1:c.2029T= NP_001274103.1:p.Cys677=
XM_011520331.1:c.2026T= XP_011518633.1:p.Cys676=
XM_011520332.1:c.2029T= XP_011518634.1:p.Cys677=
XM_011520333.1:c.526T= XP_011518635.1:p.Cys176=
XM_011520334.1:c.2029T= XP_011518636.1:p.Cys677=
XR_930890.1:n.2092T=
XR_930891.1:n.2092T=
XR_930892.1:n.2092T=
XR_930893.1:n.2092T=
NM_001351295.1:c.2095T= NP_001338224.1:p.Cys699=
NM_001351296.1:c.2026T= NP_001338225.1:p.Cys676=
NM_001351297.1:c.2026T= NP_001338226.1:p.Cys676=
NR_147094.1:n.2095T=
XM_017018197.2:c.2095T= XP_016873686.1:p.Cys699=
XM_017018199.1:c.2092T= XP_016873688.1:p.Cys698=
XM_017018201.2:c.2095T= XP_016873690.1:p.Cys699=
XM_017018202.1:c.592T= XP_016873691.1:p.Cys198=
XM_017018204.1:c.-15T= XP_016873693.1:n.-15T=
XM_024448668.1:c.394T= XP_024304436.1:p.Cys132=
XR_001747945.2:n.2167T=
XR_001747946.2:n.2101T=
XR_002957189.1:n.2167T=
NM_000352.6:c.2029T= MANE Select NP_000343.2:p.Cys677=
NM_001287174.2:c.2029T= NP_001274103.1:p.Cys677=
NM_001351295.2:c.2095T= NP_001338224.1:p.Cys699=
NM_001351296.2:c.2026T= NP_001338225.1:p.Cys676=
NM_001351297.2:c.2026T= NP_001338226.1:p.Cys676=
NR_147094.2:n.2095T=
NM_001287174.3:c.2029T= NP_001274103.1:p.Cys677=