Canonical Allele Identifier: CA1955128540
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406777G= , CM000673.2:g.17406777G= GRCh38
NC_000011.9:g.17428324G= , CM000673.1:g.17428324G= GRCh37
NC_000011.8:g.17384900G= NCBI36
NG_008867.1:g.75126C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2743C=
ENST00000529967.6:n.1513C=
ENST00000532220.2:n.906C=
ENST00000642611.2:n.3243C=
ENST00000645004.2:n.673C=
ENST00000682051.1:n.3190C=
ENST00000682110.1:n.3243C=
ENST00000682140.1:c.3171C= ENSP00000507829.1:p.Leu1057=
ENST00000682185.1:n.4479C=
ENST00000682204.1:c.*1312C= ENSP00000507094.1:n.*1312C=
ENST00000682215.1:n.3240C=
ENST00000682288.1:c.*1605C= ENSP00000507506.1:n.*1605C=
ENST00000682442.1:n.3463C=
ENST00000682528.1:n.3320C=
ENST00000682673.1:n.3187C=
ENST00000682805.1:n.3240C=
ENST00000682965.1:c.3171C= ENSP00000508229.1:p.Leu1057=
ENST00000683093.1:n.3342C=
ENST00000683136.1:c.3171C= ENSP00000507768.1:p.Leu1057=
ENST00000683153.1:n.3399C=
ENST00000683365.1:n.3345C=
ENST00000683377.1:n.3243C=
ENST00000683456.1:c.*311C= ENSP00000508318.1:n.*311C=
ENST00000683522.1:n.3243C=
ENST00000683562.1:c.*1343C= ENSP00000508265.1:n.*1343C=
ENST00000683693.1:n.3320C=
ENST00000683725.1:c.3174C= ENSP00000507496.1:p.Leu1058=
ENST00000684010.1:n.3238C=
ENST00000684157.1:n.3243C=
ENST00000684253.1:n.3146C=
ENST00000684288.1:c.*1346C= ENSP00000507143.1:n.*1346C=
ENST00000684313.1:n.2675C=
ENST00000684332.1:n.3316C=
ENST00000684371.1:n.3349C=
ENST00000684404.1:n.3286C=
ENST00000684442.1:n.3243C=
ENST00000684555.1:c.*1386C= ENSP00000507705.1:n.*1386C=
ENST00000684571.1:c.3015C= ENSP00000506935.1:p.Leu1005=
ENST00000684593.1:c.*2879C= ENSP00000507005.1:n.*2879C=
ENST00000684711.1:c.*1570C= ENSP00000506841.1:n.*1570C=
ENST00000302539.9:c.3177C= ENSP00000303960.4:p.Leu1059=
ENST00000389817.8:c.3174C= MANE Select ENSP00000374467.4:p.Leu1058=
ENST00000642271.1:c.3171C= ENSP00000493749.1:p.Leu1057=
ENST00000642579.1:c.1258C=
ENST00000642611.1:n.3128C=
ENST00000642902.1:c.2956C=
ENST00000643260.1:c.3174C= ENSP00000494450.1:p.Leu1058=
ENST00000643562.1:c.*1150C= ENSP00000496124.1:n.*1150C=
ENST00000643925.1:c.1298C=
ENST00000644447.1:c.1530C= ENSP00000496282.1:p.Leu510=
ENST00000644484.1:c.*1429C= ENSP00000493558.1:n.*1429C=
ENST00000644542.1:c.*2978C= ENSP00000495532.1:n.*2978C=
ENST00000644675.1:c.*1346C= ENSP00000494567.1:n.*1346C=
ENST00000644757.1:c.*1459C= ENSP00000495085.1:n.*1459C=
ENST00000644772.1:c.3240C= ENSP00000494321.1:p.Leu1080=
ENST00000645004.1:n.313C=
ENST00000645076.1:c.2373C=
ENST00000645417.1:c.340C=
ENST00000645744.1:c.*1438C= ENSP00000494564.1:n.*1438C=
ENST00000645760.1:c.3449C=
ENST00000645884.1:c.*311C= ENSP00000495516.1:n.*311C=
ENST00000646003.1:c.*1130C= ENSP00000495259.1:n.*1130C=
ENST00000646207.1:c.*1641C= ENSP00000495025.1:n.*1641C=
ENST00000646276.1:c.*1447C= ENSP00000496070.1:n.*1447C=
ENST00000646592.1:c.2480C=
ENST00000646902.1:c.3171C= ENSP00000494101.1:p.Leu1057=
ENST00000646993.1:c.*1570C= ENSP00000493720.1:n.*1570C=
ENST00000647013.1:c.3180C= ENSP00000496741.1:n.3180C=
ENST00000647015.1:c.2925C= ENSP00000495389.1:p.Leu975=
ENST00000647086.1:c.*2904C= ENSP00000493677.1:n.*2904C=
ENST00000647158.1:c.*1315C= ENSP00000495744.1:n.*1315C=
ENST00000302539.8:c.3177C= ENSP00000303960.4:p.Leu1059=
ENST00000389817.7:c.3174C= ENSP00000374467.3:p.Leu1058=
ENST00000524561.1:n.306C=
ENST00000526921.5:n.858C=
ENST00000527905.5:c.*50C= ENSP00000431653.1:n.*50C=
NM_000352.4:c.3174C= NP_000343.2:p.Leu1058=
NM_001287174.1:c.3177C= NP_001274103.1:p.Leu1059=
XM_011520331.1:c.3174C= XP_011518633.1:p.Leu1058=
XM_011520332.1:c.3177C= XP_011518634.1:p.Leu1059=
XM_011520333.1:c.1674C= XP_011518635.1:p.Leu558=
XR_930890.1:n.3240C=
XR_930891.1:n.3240C=
XR_930892.1:n.3140C=
XR_930893.1:n.3137C=
NM_001351295.1:c.3240C= NP_001338224.1:p.Leu1080=
NM_001351296.1:c.3174C= NP_001338225.1:p.Leu1058=
NM_001351297.1:c.3171C= NP_001338226.1:p.Leu1057=
NR_147094.1:n.3323C=
XM_017018197.2:c.3243C= XP_016873686.1:p.Leu1081=
XM_017018199.1:c.3240C= XP_016873688.1:p.Leu1080=
XM_017018201.2:c.3243C= XP_016873690.1:p.Leu1081=
XM_017018202.1:c.1740C= XP_016873691.1:p.Leu580=
XM_017018204.1:c.1131C= XP_016873693.1:p.Leu377=
XM_024448668.1:c.1542C= XP_024304436.1:p.Leu514=
XR_001747945.2:n.3315C=
XR_001747946.2:n.3246C=
XR_002957189.1:n.3395C=
NM_000352.6:c.3174C= MANE Select NP_000343.2:p.Leu1058=
NM_001287174.2:c.3177C= NP_001274103.1:p.Leu1059=
NM_001351295.2:c.3240C= NP_001338224.1:p.Leu1080=
NM_001351296.2:c.3174C= NP_001338225.1:p.Leu1058=
NM_001351297.2:c.3171C= NP_001338226.1:p.Leu1057=
NR_147094.2:n.3323C=
NM_001287174.3:c.3177C= NP_001274103.1:p.Leu1059=