Canonical Allele Identifier: CA1955128642
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406942C= , CM000673.2:g.17406942C= GRCh38
NC_000011.9:g.17428489C= , CM000673.1:g.17428489C= GRCh37
NC_000011.8:g.17385065C= NCBI36
NG_008867.1:g.74961G=

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.2677G=
ENST00000529967.6:n.1447G=
ENST00000532220.2:n.840G=
ENST00000642611.2:n.3177G=
ENST00000645004.2:n.607G=
ENST00000682051.1:n.3124G=
ENST00000682110.1:n.3177G=
ENST00000682140.1:c.3105G= ENSP00000507829.1:p.Trp1035=
ENST00000682185.1:n.4413G=
ENST00000682204.1:c.*1246G= ENSP00000507094.1:n.*1246G=
ENST00000682215.1:n.3174G=
ENST00000682288.1:c.*1539G= ENSP00000507506.1:n.*1539G=
ENST00000682442.1:n.3298G=
ENST00000682528.1:n.3254G=
ENST00000682673.1:n.3121G=
ENST00000682805.1:n.3174G=
ENST00000682965.1:c.3105G= ENSP00000508229.1:p.Trp1035=
ENST00000683093.1:n.3276G=
ENST00000683136.1:c.3105G= ENSP00000507768.1:p.Trp1035=
ENST00000683153.1:n.3333G=
ENST00000683365.1:n.3279G=
ENST00000683377.1:n.3177G=
ENST00000683456.1:c.*245G= ENSP00000508318.1:n.*245G=
ENST00000683522.1:n.3177G=
ENST00000683562.1:c.*1277G= ENSP00000508265.1:n.*1277G=
ENST00000683693.1:n.3254G=
ENST00000683725.1:c.3108G= ENSP00000507496.1:p.Trp1036=
ENST00000684010.1:n.3172G=
ENST00000684157.1:n.3177G=
ENST00000684253.1:n.3080G=
ENST00000684288.1:c.*1280G= ENSP00000507143.1:n.*1280G=
ENST00000684313.1:n.2609G=
ENST00000684332.1:n.3250G=
ENST00000684371.1:n.3283G=
ENST00000684404.1:n.3220G=
ENST00000684442.1:n.3177G=
ENST00000684555.1:c.*1320G= ENSP00000507705.1:n.*1320G=
ENST00000684571.1:c.2949G= ENSP00000506935.1:p.Trp983=
ENST00000684593.1:c.*2813G= ENSP00000507005.1:n.*2813G=
ENST00000684711.1:c.*1504G= ENSP00000506841.1:n.*1504G=
ENST00000302539.9:c.3111G= ENSP00000303960.4:p.Trp1037=
ENST00000389817.8:c.3108G= MANE Select ENSP00000374467.4:p.Trp1036=
ENST00000642271.1:c.3105G= ENSP00000493749.1:p.Trp1035=
ENST00000642579.1:c.1192G=
ENST00000642611.1:n.3062G=
ENST00000642902.1:c.2890G=
ENST00000643260.1:c.3108G= ENSP00000494450.1:p.Trp1036=
ENST00000643562.1:c.*1084G= ENSP00000496124.1:n.*1084G=
ENST00000643925.1:c.1232G=
ENST00000644447.1:c.1464G= ENSP00000496282.1:p.Trp488=
ENST00000644484.1:c.*1363G= ENSP00000493558.1:n.*1363G=
ENST00000644542.1:c.*2813G= ENSP00000495532.1:n.*2813G=
ENST00000644675.1:c.*1280G= ENSP00000494567.1:n.*1280G=
ENST00000644757.1:c.*1393G= ENSP00000495085.1:n.*1393G=
ENST00000644772.1:c.3174G= ENSP00000494321.1:p.Trp1058=
ENST00000645004.1:n.247G=
ENST00000645076.1:c.2307G=
ENST00000645417.1:c.274G=
ENST00000645744.1:c.*1372G= ENSP00000494564.1:n.*1372G=
ENST00000645760.1:c.3383G=
ENST00000645884.1:c.*245G= ENSP00000495516.1:n.*245G=
ENST00000646003.1:c.*1064G= ENSP00000495259.1:n.*1064G=
ENST00000646207.1:c.*1575G= ENSP00000495025.1:n.*1575G=
ENST00000646276.1:c.*1381G= ENSP00000496070.1:n.*1381G=
ENST00000646592.1:c.2414G=
ENST00000646902.1:c.3105G= ENSP00000494101.1:p.Trp1035=
ENST00000646993.1:c.*1504G= ENSP00000493720.1:n.*1504G=
ENST00000647013.1:c.3114G= ENSP00000496741.1:n.3114G=
ENST00000647015.1:c.2859G= ENSP00000495389.1:p.Trp953=
ENST00000647086.1:c.*2838G= ENSP00000493677.1:n.*2838G=
ENST00000647158.1:c.*1249G= ENSP00000495744.1:n.*1249G=
ENST00000302539.8:c.3111G= ENSP00000303960.4:p.Trp1037=
ENST00000389817.7:c.3108G= ENSP00000374467.3:p.Trp1036=
ENST00000524561.1:n.240G=
ENST00000526921.5:n.792G=
ENST00000527905.5:c.2978G= ENSP00000431653.1:p.Gly993=
ENST00000529967.5:n.777G=
NM_000352.4:c.3108G= NP_000343.2:p.Trp1036=
NM_001287174.1:c.3111G= NP_001274103.1:p.Trp1037=
XM_011520331.1:c.3108G= XP_011518633.1:p.Trp1036=
XM_011520332.1:c.3111G= XP_011518634.1:p.Trp1037=
XM_011520333.1:c.1608G= XP_011518635.1:p.Trp536=
XR_930890.1:n.3174G=
XR_930891.1:n.3174G=
XR_930892.1:n.3074G=
XR_930893.1:n.3071G=
NM_001351295.1:c.3174G= NP_001338224.1:p.Trp1058=
NM_001351296.1:c.3108G= NP_001338225.1:p.Trp1036=
NM_001351297.1:c.3105G= NP_001338226.1:p.Trp1035=
NR_147094.1:n.3257G=
XM_017018197.2:c.3177G= XP_016873686.1:p.Trp1059=
XM_017018199.1:c.3174G= XP_016873688.1:p.Trp1058=
XM_017018201.2:c.3177G= XP_016873690.1:p.Trp1059=
XM_017018202.1:c.1674G= XP_016873691.1:p.Trp558=
XM_017018204.1:c.1065G= XP_016873693.1:p.Trp355=
XM_024448668.1:c.1476G= XP_024304436.1:p.Trp492=
XR_001747945.2:n.3249G=
XR_001747946.2:n.3180G=
XR_002957189.1:n.3329G=
NM_000352.6:c.3108G= MANE Select NP_000343.2:p.Trp1036=
NM_001287174.2:c.3111G= NP_001274103.1:p.Trp1037=
NM_001351295.2:c.3174G= NP_001338224.1:p.Trp1058=
NM_001351296.2:c.3108G= NP_001338225.1:p.Trp1036=
NM_001351297.2:c.3105G= NP_001338226.1:p.Trp1035=
NR_147094.2:n.3257G=
NM_001287174.3:c.3111G= NP_001274103.1:p.Trp1037=