Canonical Allele Identifier: CA379804200
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17407093G>C , CM000673.2:g.17407093G>C GRCh38
NC_000011.9:g.17428640G>C , CM000673.1:g.17428640G>C GRCh37
NC_000011.8:g.17385216G>C NCBI36
NG_008867.1:g.74810C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2526C>G
ENST00000529967.6:n.1296C>G
ENST00000532220.2:n.689C>G
ENST00000642611.2:n.3026C>G
ENST00000645004.2:n.456C>G
ENST00000682051.1:n.2973C>G
ENST00000682110.1:n.3026C>G
ENST00000682140.1:c.2954C>G ENSP00000507829.1:p.Ser985Trp
ENST00000682185.1:n.4262C>G
ENST00000682204.1:c.*1095C>G ENSP00000507094.1:n.*1095C>G
ENST00000682215.1:n.3023C>G
ENST00000682288.1:c.*1388C>G ENSP00000507506.1:n.*1388C>G
ENST00000682442.1:n.3147C>G
ENST00000682528.1:n.3103C>G
ENST00000682673.1:n.2970C>G
ENST00000682805.1:n.3023C>G
ENST00000682965.1:c.2954C>G ENSP00000508229.1:p.Ser985Trp
ENST00000683093.1:n.3125C>G
ENST00000683136.1:c.2954C>G ENSP00000507768.1:p.Ser985Trp
ENST00000683153.1:n.3182C>G
ENST00000683365.1:n.3128C>G
ENST00000683377.1:n.3026C>G
ENST00000683456.1:c.*94C>G ENSP00000508318.1:n.*94C>G
ENST00000683522.1:n.3026C>G
ENST00000683562.1:c.*1126C>G ENSP00000508265.1:n.*1126C>G
ENST00000683693.1:n.3103C>G
ENST00000683725.1:c.2957C>G ENSP00000507496.1:p.Ser986Trp
ENST00000684010.1:n.3021C>G
ENST00000684157.1:n.3026C>G
ENST00000684253.1:n.2929C>G
ENST00000684288.1:c.*1129C>G ENSP00000507143.1:n.*1129C>G
ENST00000684313.1:n.2458C>G
ENST00000684332.1:n.3099C>G
ENST00000684371.1:n.3132C>G
ENST00000684404.1:n.3069C>G
ENST00000684442.1:n.3026C>G
ENST00000684555.1:c.*1169C>G ENSP00000507705.1:n.*1169C>G
ENST00000684571.1:c.2798C>G ENSP00000506935.1:p.Ser933Trp
ENST00000684593.1:c.*2662C>G ENSP00000507005.1:n.*2662C>G
ENST00000684711.1:c.*1353C>G ENSP00000506841.1:n.*1353C>G
ENST00000302539.9:c.2960C>G ENSP00000303960.4:p.Ser987Trp
ENST00000389817.8:c.2957C>G MANE Select ENSP00000374467.4:p.Ser986Trp
ENST00000642271.1:c.2954C>G ENSP00000493749.1:p.Ser985Trp
ENST00000642579.1:c.1041C>G
ENST00000642611.1:n.2911C>G
ENST00000642902.1:c.2756-17C>G
ENST00000643260.1:c.2957C>G ENSP00000494450.1:p.Ser986Trp
ENST00000643562.1:c.*933C>G ENSP00000496124.1:n.*933C>G
ENST00000643925.1:c.1081C>G
ENST00000644447.1:c.1313C>G ENSP00000496282.1:p.Ser438Trp
ENST00000644484.1:c.*1212C>G ENSP00000493558.1:n.*1212C>G
ENST00000644542.1:c.*2662C>G ENSP00000495532.1:n.*2662C>G
ENST00000644675.1:c.*1129C>G ENSP00000494567.1:n.*1129C>G
ENST00000644757.1:c.*1242C>G ENSP00000495085.1:n.*1242C>G
ENST00000644772.1:c.3023C>G ENSP00000494321.1:p.Ser1008Trp
ENST00000645004.1:n.96C>G
ENST00000645076.1:c.2173-17C>G
ENST00000645417.1:c.123C>G
ENST00000645744.1:c.*1221C>G ENSP00000494564.1:n.*1221C>G
ENST00000645760.1:c.3232C>G
ENST00000645884.1:c.*94C>G ENSP00000495516.1:n.*94C>G
ENST00000646003.1:c.*913C>G ENSP00000495259.1:n.*913C>G
ENST00000646207.1:c.*1424C>G ENSP00000495025.1:n.*1424C>G
ENST00000646276.1:c.*1230C>G ENSP00000496070.1:n.*1230C>G
ENST00000646592.1:c.2263C>G
ENST00000646902.1:c.2954C>G ENSP00000494101.1:p.Ser985Trp
ENST00000646993.1:c.*1353C>G ENSP00000493720.1:n.*1353C>G
ENST00000647013.1:c.2963C>G ENSP00000496741.1:n.2963C>G
ENST00000647015.1:c.2708C>G ENSP00000495389.1:p.Ser903Trp
ENST00000647086.1:c.*2687C>G ENSP00000493677.1:n.*2687C>G
ENST00000647158.1:c.*1098C>G ENSP00000495744.1:n.*1098C>G
ENST00000302539.8:c.2960C>G ENSP00000303960.4:p.Ser987Trp
ENST00000389817.7:c.2957C>G ENSP00000374467.3:p.Ser986Trp
ENST00000524561.1:n.89C>G
ENST00000526921.5:n.641C>G
ENST00000527905.5:c.2827C>G ENSP00000431653.1:p.Arg943Gly
ENST00000529967.5:n.626C>G
NM_000352.4:c.2957C>G NP_000343.2:p.Ser986Trp
NM_001287174.1:c.2960C>G NP_001274103.1:p.Ser987Trp
XM_011520331.1:c.2957C>G XP_011518633.1:p.Ser986Trp
XM_011520332.1:c.2960C>G XP_011518634.1:p.Ser987Trp
XM_011520333.1:c.1457C>G XP_011518635.1:p.Ser486Trp
XR_930890.1:n.3023C>G
XR_930891.1:n.3023C>G
XR_930892.1:n.2923C>G
XR_930893.1:n.2920C>G
NM_001351295.1:c.3023C>G NP_001338224.1:p.Ser1008Trp
NM_001351296.1:c.2957C>G NP_001338225.1:p.Ser986Trp
NM_001351297.1:c.2954C>G NP_001338226.1:p.Ser985Trp
NR_147094.1:n.3106C>G
XM_017018197.2:c.3026C>G XP_016873686.1:p.Ser1009Trp
XM_017018199.1:c.3023C>G XP_016873688.1:p.Ser1008Trp
XM_017018201.2:c.3026C>G XP_016873690.1:p.Ser1009Trp
XM_017018202.1:c.1523C>G XP_016873691.1:p.Ser508Trp
XM_017018204.1:c.914C>G XP_016873693.1:p.Ser305Trp
XM_024448668.1:c.1325C>G XP_024304436.1:p.Ser442Trp
XR_001747945.2:n.3098C>G
XR_001747946.2:n.3029C>G
XR_002957189.1:n.3178C>G
NM_000352.6:c.2957C>G MANE Select NP_000343.2:p.Ser986Trp
NM_001287174.2:c.2960C>G NP_001274103.1:p.Ser987Trp
NM_001351295.2:c.3023C>G NP_001338224.1:p.Ser1008Trp
NM_001351296.2:c.2957C>G NP_001338225.1:p.Ser986Trp
NM_001351297.2:c.2954C>G NP_001338226.1:p.Ser985Trp
NR_147094.2:n.3106C>G
NM_001287174.3:c.2960C>G NP_001274103.1:p.Ser987Trp