Canonical Allele Identifier: CA1955138403
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17428309C= , CM000673.2:g.17428309C= GRCh38
NC_000011.9:g.17449856C= , CM000673.1:g.17449856C= GRCh37
NC_000011.8:g.17406432C= NCBI36
NG_008867.1:g.53594G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1689G=
ENST00000529967.6:n.279G=
ENST00000642611.2:n.2086G=
ENST00000682051.1:n.2033G=
ENST00000682110.1:n.2086G=
ENST00000682140.1:c.2017G= ENSP00000507829.1:p.Ala673=
ENST00000682185.1:n.3325G=
ENST00000682204.1:c.*158G= ENSP00000507094.1:n.*158G=
ENST00000682215.1:n.2086G=
ENST00000682288.1:c.*448G= ENSP00000507506.1:n.*448G=
ENST00000682442.1:n.2207G=
ENST00000682528.1:n.2086G=
ENST00000682673.1:n.2033G=
ENST00000682805.1:n.2086G=
ENST00000682965.1:c.2017G= ENSP00000508229.1:p.Ala673=
ENST00000683093.1:n.2188G=
ENST00000683136.1:c.2017G= ENSP00000507768.1:p.Ala673=
ENST00000683153.1:n.2245G=
ENST00000683253.1:n.3102G=
ENST00000683365.1:n.2188G=
ENST00000683377.1:n.2086G=
ENST00000683456.1:c.2017G= ENSP00000508318.1:p.Ala673=
ENST00000683522.1:n.2086G=
ENST00000683562.1:c.*189G= ENSP00000508265.1:n.*189G=
ENST00000683693.1:n.2086G=
ENST00000683725.1:c.2020G= ENSP00000507496.1:p.Ala674=
ENST00000684010.1:n.2086G=
ENST00000684157.1:n.2086G=
ENST00000684253.1:n.1992G=
ENST00000684288.1:c.*189G= ENSP00000507143.1:n.*189G=
ENST00000684313.1:n.1724-11347G=
ENST00000684332.1:n.2159G=
ENST00000684371.1:n.2192G=
ENST00000684404.1:n.2086G=
ENST00000684442.1:n.2086G=
ENST00000684555.1:c.*229G= ENSP00000507705.1:n.*229G=
ENST00000684571.1:c.1861G= ENSP00000506935.1:p.Ala621=
ENST00000684593.1:c.*1725G= ENSP00000507005.1:n.*1725G=
ENST00000684711.1:c.*416G= ENSP00000506841.1:n.*416G=
ENST00000302539.9:c.2020G= ENSP00000303960.4:p.Ala674=
ENST00000389817.8:c.2020G= MANE Select ENSP00000374467.4:p.Ala674=
ENST00000532728.6:c.1601G=
ENST00000642271.1:c.2017G= ENSP00000493749.1:p.Ala673=
ENST00000642579.1:c.101G=
ENST00000642611.1:n.1971G=
ENST00000642902.1:c.1855G=
ENST00000643260.1:c.2017G= ENSP00000494450.1:p.Ala673=
ENST00000643562.1:c.2012G= ENSP00000496124.1:p.Cys671=
ENST00000644447.1:c.373G= ENSP00000496282.1:p.Ala125=
ENST00000644472.1:c.*381G= ENSP00000495378.1:n.*381G=
ENST00000644484.1:c.*229G= ENSP00000493558.1:n.*229G=
ENST00000644542.1:c.*1722G= ENSP00000495532.1:n.*1722G=
ENST00000644649.1:c.1190G=
ENST00000644675.1:c.*189G= ENSP00000494567.1:n.*189G=
ENST00000644757.1:c.*322G= ENSP00000495085.1:n.*322G=
ENST00000644772.1:c.2086G= ENSP00000494321.1:p.Ala696=
ENST00000645076.1:c.1272G=
ENST00000645744.1:c.*381G= ENSP00000494564.1:n.*381G=
ENST00000645760.1:c.2295G=
ENST00000645884.1:c.2017G= ENSP00000495516.1:p.Ala673=
ENST00000646003.1:c.*158G= ENSP00000495259.1:n.*158G=
ENST00000646207.1:c.*381G= ENSP00000495025.1:n.*381G=
ENST00000646276.1:c.*290G= ENSP00000496070.1:n.*290G=
ENST00000646592.1:c.1243G=
ENST00000646902.1:c.2017G= ENSP00000494101.1:p.Ala673=
ENST00000646993.1:c.*416G= ENSP00000493720.1:n.*416G=
ENST00000647013.1:c.2023G= ENSP00000496741.1:n.2023G=
ENST00000647015.1:c.1768G= ENSP00000495389.1:p.Ala590=
ENST00000647086.1:c.*1747G= ENSP00000493677.1:n.*1747G=
ENST00000647158.1:c.*158G= ENSP00000495744.1:n.*158G=
ENST00000302539.8:c.2020G= ENSP00000303960.4:p.Ala674=
ENST00000389817.7:c.2020G= ENSP00000374467.3:p.Ala674=
ENST00000527905.5:c.1990G= ENSP00000431653.1:p.Ala664=
NM_000352.4:c.2020G= NP_000343.2:p.Ala674=
NM_001287174.1:c.2020G= NP_001274103.1:p.Ala674=
XM_011520331.1:c.2017G= XP_011518633.1:p.Ala673=
XM_011520332.1:c.2020G= XP_011518634.1:p.Ala674=
XM_011520333.1:c.517G= XP_011518635.1:p.Ala173=
XM_011520334.1:c.2020G= XP_011518636.1:p.Ala674=
XR_930890.1:n.2083G=
XR_930891.1:n.2083G=
XR_930892.1:n.2083G=
XR_930893.1:n.2083G=
NM_001351295.1:c.2086G= NP_001338224.1:p.Ala696=
NM_001351296.1:c.2017G= NP_001338225.1:p.Ala673=
NM_001351297.1:c.2017G= NP_001338226.1:p.Ala673=
NR_147094.1:n.2086G=
XM_017018197.2:c.2086G= XP_016873686.1:p.Ala696=
XM_017018199.1:c.2083G= XP_016873688.1:p.Ala695=
XM_017018201.2:c.2086G= XP_016873690.1:p.Ala696=
XM_017018202.1:c.583G= XP_016873691.1:p.Ala195=
XM_017018204.1:c.-24G= XP_016873693.1:n.-24G=
XM_024448668.1:c.385G= XP_024304436.1:p.Ala129=
XR_001747945.2:n.2158G=
XR_001747946.2:n.2092G=
XR_002957189.1:n.2158G=
NM_000352.6:c.2020G= MANE Select NP_000343.2:p.Ala674=
NM_001287174.2:c.2020G= NP_001274103.1:p.Ala674=
NM_001351295.2:c.2086G= NP_001338224.1:p.Ala696=
NM_001351296.2:c.2017G= NP_001338225.1:p.Ala673=
NM_001351297.2:c.2017G= NP_001338226.1:p.Ala673=
NR_147094.2:n.2086G=
NM_001287174.3:c.2020G= NP_001274103.1:p.Ala674=