Canonical Allele Identifier: CA1955138454
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17428404G= , CM000673.2:g.17428404G= GRCh38
NC_000011.9:g.17449951G= , CM000673.1:g.17449951G= GRCh37
NC_000011.8:g.17406527G= NCBI36
NG_008867.1:g.53499C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1594C=
ENST00000529967.6:n.184C=
ENST00000642611.2:n.1991C=
ENST00000682051.1:n.1938C=
ENST00000682110.1:n.1991C=
ENST00000682140.1:c.1922C= ENSP00000507829.1:p.Pro641=
ENST00000682185.1:n.3230C=
ENST00000682204.1:c.*63C= ENSP00000507094.1:n.*63C=
ENST00000682215.1:n.1991C=
ENST00000682288.1:c.*353C= ENSP00000507506.1:n.*353C=
ENST00000682442.1:n.2112C=
ENST00000682528.1:n.1991C=
ENST00000682673.1:n.1938C=
ENST00000682805.1:n.1991C=
ENST00000682965.1:c.1922C= ENSP00000508229.1:p.Pro641=
ENST00000683093.1:n.2093C=
ENST00000683136.1:c.1922C= ENSP00000507768.1:p.Pro641=
ENST00000683153.1:n.2150C=
ENST00000683253.1:n.3007C=
ENST00000683365.1:n.2093C=
ENST00000683377.1:n.1991C=
ENST00000683456.1:c.1922C= ENSP00000508318.1:p.Pro641=
ENST00000683522.1:n.1991C=
ENST00000683562.1:c.*94C= ENSP00000508265.1:n.*94C=
ENST00000683693.1:n.1991C=
ENST00000683725.1:c.1925C= ENSP00000507496.1:p.Pro642=
ENST00000684010.1:n.1991C=
ENST00000684157.1:n.1991C=
ENST00000684253.1:n.1897C=
ENST00000684288.1:c.*94C= ENSP00000507143.1:n.*94C=
ENST00000684313.1:n.1724-11442C=
ENST00000684332.1:n.2064C=
ENST00000684371.1:n.2097C=
ENST00000684404.1:n.1991C=
ENST00000684442.1:n.1991C=
ENST00000684555.1:c.*134C= ENSP00000507705.1:n.*134C=
ENST00000684571.1:c.1766C= ENSP00000506935.1:p.Pro589=
ENST00000684593.1:c.*1630C= ENSP00000507005.1:n.*1630C=
ENST00000684711.1:c.*321C= ENSP00000506841.1:n.*321C=
ENST00000302539.9:c.1925C= ENSP00000303960.4:p.Pro642=
ENST00000389817.8:c.1925C= MANE Select ENSP00000374467.4:p.Pro642=
ENST00000532728.6:c.1506C=
ENST00000642271.1:c.1922C= ENSP00000493749.1:p.Pro641=
ENST00000642579.1:c.6C=
ENST00000642611.1:n.1876C=
ENST00000642902.1:c.1760C=
ENST00000643260.1:c.1922C= ENSP00000494450.1:p.Pro641=
ENST00000643562.1:c.1924-7C= ENSP00000496124.1:n.1924-7C=
ENST00000644447.1:c.278C= ENSP00000496282.1:p.Pro93=
ENST00000644472.1:c.*286C= ENSP00000495378.1:n.*286C=
ENST00000644484.1:c.*134C= ENSP00000493558.1:n.*134C=
ENST00000644542.1:c.*1627C= ENSP00000495532.1:n.*1627C=
ENST00000644649.1:c.1095C=
ENST00000644675.1:c.*94C= ENSP00000494567.1:n.*94C=
ENST00000644757.1:c.*227C= ENSP00000495085.1:n.*227C=
ENST00000644772.1:c.1991C= ENSP00000494321.1:p.Pro664=
ENST00000645076.1:c.1177C=
ENST00000645744.1:c.*286C= ENSP00000494564.1:n.*286C=
ENST00000645760.1:c.2200C=
ENST00000645884.1:c.1922C= ENSP00000495516.1:p.Pro641=
ENST00000646003.1:c.*63C= ENSP00000495259.1:n.*63C=
ENST00000646207.1:c.*286C= ENSP00000495025.1:n.*286C=
ENST00000646276.1:c.*195C= ENSP00000496070.1:n.*195C=
ENST00000646592.1:c.1148C=
ENST00000646902.1:c.1922C= ENSP00000494101.1:p.Pro641=
ENST00000646993.1:c.*321C= ENSP00000493720.1:n.*321C=
ENST00000647013.1:c.1928C= ENSP00000496741.1:n.1928C=
ENST00000647015.1:c.1673C= ENSP00000495389.1:p.Pro558=
ENST00000647086.1:c.*1652C= ENSP00000493677.1:n.*1652C=
ENST00000647158.1:c.*63C= ENSP00000495744.1:n.*63C=
ENST00000302539.8:c.1925C= ENSP00000303960.4:p.Pro642=
ENST00000389817.7:c.1925C= ENSP00000374467.3:p.Pro642=
ENST00000527905.5:c.1895C= ENSP00000431653.1:p.Pro632=
NM_000352.4:c.1925C= NP_000343.2:p.Pro642=
NM_001287174.1:c.1925C= NP_001274103.1:p.Pro642=
XM_011520331.1:c.1922C= XP_011518633.1:p.Pro641=
XM_011520332.1:c.1925C= XP_011518634.1:p.Pro642=
XM_011520333.1:c.422C= XP_011518635.1:p.Pro141=
XM_011520334.1:c.1925C= XP_011518636.1:p.Pro642=
XR_930890.1:n.1988C=
XR_930891.1:n.1988C=
XR_930892.1:n.1988C=
XR_930893.1:n.1988C=
NM_001351295.1:c.1991C= NP_001338224.1:p.Pro664=
NM_001351296.1:c.1922C= NP_001338225.1:p.Pro641=
NM_001351297.1:c.1922C= NP_001338226.1:p.Pro641=
NR_147094.1:n.1991C=
XM_017018197.2:c.1991C= XP_016873686.1:p.Pro664=
XM_017018199.1:c.1988C= XP_016873688.1:p.Pro663=
XM_017018201.2:c.1991C= XP_016873690.1:p.Pro664=
XM_017018202.1:c.488C= XP_016873691.1:p.Pro163=
XM_017018204.1:c.-119C= XP_016873693.1:n.-119C=
XM_024448668.1:c.290C= XP_024304436.1:p.Pro97=
XR_001747945.2:n.2063C=
XR_001747946.2:n.1997C=
XR_002957189.1:n.2063C=
NM_000352.6:c.1925C= MANE Select NP_000343.2:p.Pro642=
NM_001287174.2:c.1925C= NP_001274103.1:p.Pro642=
NM_001351295.2:c.1991C= NP_001338224.1:p.Pro664=
NM_001351296.2:c.1922C= NP_001338225.1:p.Pro641=
NM_001351297.2:c.1922C= NP_001338226.1:p.Pro641=
NR_147094.2:n.1991C=
NM_001287174.3:c.1925C= NP_001274103.1:p.Pro642=