Canonical Allele Identifier: CA1955123929
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396996G= , CM000673.2:g.17396996G= GRCh38
NC_000011.9:g.17418543G= , CM000673.1:g.17418543G= GRCh37
NC_000011.8:g.17375119G= NCBI36
NG_008867.1:g.84907C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3640C=
ENST00000528374.2:c.630C=
ENST00000529967.6:n.2378C=
ENST00000532220.2:n.2287C=
ENST00000642611.2:n.4254C=
ENST00000644057.2:n.482C=
ENST00000645004.2:n.1538C=
ENST00000682051.1:n.4201C=
ENST00000682110.1:n.4254C=
ENST00000682140.1:c.3985+197C= ENSP00000507829.1:n.3985+197C=
ENST00000682185.1:n.5344C=
ENST00000682204.1:c.*2177C= ENSP00000507094.1:n.*2177C=
ENST00000682215.1:n.4621C=
ENST00000682288.1:c.*2470C= ENSP00000507506.1:n.*2470C=
ENST00000682442.1:n.4474C=
ENST00000682528.1:n.4331C=
ENST00000682673.1:n.4198C=
ENST00000682805.1:n.4621C=
ENST00000682965.1:c.*461C= ENSP00000508229.1:n.*461C=
ENST00000683093.1:n.4353C=
ENST00000683136.1:c.3922C= ENSP00000507768.1:p.Gln1308=
ENST00000683153.1:n.4296C=
ENST00000683365.1:n.4356C=
ENST00000683377.1:n.4254C=
ENST00000683456.1:c.*1176C= ENSP00000508318.1:n.*1176C=
ENST00000683522.1:n.4254C=
ENST00000683562.1:c.*2208C= ENSP00000508265.1:n.*2208C=
ENST00000683693.1:n.4701C=
ENST00000683725.1:c.4039C= ENSP00000507496.1:p.Gln1347=
ENST00000684010.1:n.4249C=
ENST00000684157.1:n.4254C=
ENST00000684253.1:n.4157C=
ENST00000684288.1:c.*2211C= ENSP00000507143.1:n.*2211C=
ENST00000684313.1:n.3686C=
ENST00000684332.1:n.4327C=
ENST00000684371.1:n.4360C=
ENST00000684404.1:n.4297C=
ENST00000684442.1:n.4478C=
ENST00000684555.1:c.*2251C= ENSP00000507705.1:n.*2251C=
ENST00000684571.1:c.3880C= ENSP00000506935.1:p.Gln1294=
ENST00000684593.1:c.*3744C= ENSP00000507005.1:n.*3744C=
ENST00000684711.1:c.*2435C= ENSP00000506841.1:n.*2435C=
ENST00000302539.9:c.4042C= ENSP00000303960.4:p.Gln1348=
ENST00000389817.8:c.4039C= MANE Select ENSP00000374467.4:p.Gln1347=
ENST00000642271.1:c.4036C= ENSP00000493749.1:p.Gln1346=
ENST00000642579.1:c.2093C=
ENST00000642611.1:n.4139C=
ENST00000642902.1:c.3821C=
ENST00000643260.1:c.4039C= ENSP00000494450.1:p.Gln1347=
ENST00000643562.1:c.*2161C= ENSP00000496124.1:n.*2161C=
ENST00000643925.1:c.2679C=
ENST00000644057.1:n.116C=
ENST00000644484.1:c.*2440C= ENSP00000493558.1:n.*2440C=
ENST00000644675.1:c.*2211C= ENSP00000494567.1:n.*2211C=
ENST00000644757.1:c.*2470C= ENSP00000495085.1:n.*2470C=
ENST00000644772.1:c.4105C= ENSP00000494321.1:p.Gln1369=
ENST00000645004.1:n.1694C=
ENST00000645076.1:c.3238C=
ENST00000645417.1:c.1227C=
ENST00000645744.1:c.*2819C= ENSP00000494564.1:n.*2819C=
ENST00000645760.1:c.4460C=
ENST00000645884.1:c.*1322C= ENSP00000495516.1:n.*1322C=
ENST00000646003.1:c.*2141C= ENSP00000495259.1:n.*2141C=
ENST00000646207.1:c.*2876C= ENSP00000495025.1:n.*2876C=
ENST00000646276.1:c.*2458C= ENSP00000496070.1:n.*2458C=
ENST00000646592.1:c.3345C=
ENST00000646902.1:c.4006C= ENSP00000494101.1:p.Gln1336=
ENST00000646993.1:c.*2581C= ENSP00000493720.1:n.*2581C=
ENST00000647013.1:c.4045C= ENSP00000496741.1:n.4045C=
ENST00000647015.1:c.3790C= ENSP00000495389.1:p.Gln1264=
ENST00000647086.1:c.*3625C= ENSP00000493677.1:n.*3625C=
ENST00000647158.1:c.*2326C= ENSP00000495744.1:n.*2326C=
ENST00000302539.8:c.4042C= ENSP00000303960.4:p.Gln1348=
ENST00000389817.7:c.4039C= ENSP00000374467.3:p.Gln1347=
ENST00000527905.5:c.*1061C= ENSP00000431653.1:n.*1061C=
ENST00000528374.1:c.521C=
ENST00000531137.1:n.604C=
ENST00000531891.1:c.377C=
ENST00000532220.1:n.513C=
NM_000352.4:c.4039C= NP_000343.2:p.Gln1347=
NM_001287174.1:c.4042C= NP_001274103.1:p.Gln1348=
XM_011520331.1:c.4039C= XP_011518633.1:p.Gln1347=
XM_011520332.1:c.4042C= XP_011518634.1:p.Gln1348=
XM_011520333.1:c.2539C= XP_011518635.1:p.Gln847=
XR_930890.1:n.4105C=
NM_001351295.1:c.4105C= NP_001338224.1:p.Gln1369=
NM_001351296.1:c.4039C= NP_001338225.1:p.Gln1347=
NM_001351297.1:c.4036C= NP_001338226.1:p.Gln1346=
NR_147094.1:n.4334C=
XM_017018197.2:c.4108C= XP_016873686.1:p.Gln1370=
XM_017018199.1:c.4105C= XP_016873688.1:p.Gln1369=
XM_017018201.2:c.4108C= XP_016873690.1:p.Gln1370=
XM_017018202.1:c.2605C= XP_016873691.1:p.Gln869=
XM_017018204.1:c.1996C= XP_016873693.1:p.Gln666=
XM_024448668.1:c.2407C= XP_024304436.1:p.Gln803=
XR_001747945.2:n.4180C=
XR_001747946.2:n.4111C=
XR_002957189.1:n.4776C=
NM_000352.6:c.4039C= MANE Select NP_000343.2:p.Gln1347=
NM_001287174.2:c.4042C= NP_001274103.1:p.Gln1348=
NM_001351295.2:c.4105C= NP_001338224.1:p.Gln1369=
NM_001351296.2:c.4039C= NP_001338225.1:p.Gln1347=
NM_001351297.2:c.4036C= NP_001338226.1:p.Gln1346=
NR_147094.2:n.4334C=
NM_001287174.3:c.4042C= NP_001274103.1:p.Gln1348=