Canonical Allele Identifier: CA1955123923
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396981G= , CM000673.2:g.17396981G= GRCh38
NC_000011.9:g.17418528G= , CM000673.1:g.17418528G= GRCh37
NC_000011.8:g.17375104G= NCBI36
NG_008867.1:g.84922C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3655C=
ENST00000528374.2:c.645C=
ENST00000529967.6:n.2393C=
ENST00000532220.2:n.2302C=
ENST00000642611.2:n.4269C=
ENST00000644057.2:n.497C=
ENST00000645004.2:n.1553C=
ENST00000682051.1:n.4216C=
ENST00000682110.1:n.4269C=
ENST00000682140.1:c.3985+212C= ENSP00000507829.1:n.3985+212C=
ENST00000682185.1:n.5359C=
ENST00000682204.1:c.*2192C= ENSP00000507094.1:n.*2192C=
ENST00000682215.1:n.4636C=
ENST00000682288.1:c.*2485C= ENSP00000507506.1:n.*2485C=
ENST00000682442.1:n.4489C=
ENST00000682528.1:n.4346C=
ENST00000682673.1:n.4213C=
ENST00000682805.1:n.4636C=
ENST00000682965.1:c.*476C= ENSP00000508229.1:n.*476C=
ENST00000683093.1:n.4368C=
ENST00000683136.1:c.3937C= ENSP00000507768.1:p.Arg1313=
ENST00000683153.1:n.4311C=
ENST00000683365.1:n.4371C=
ENST00000683377.1:n.4269C=
ENST00000683456.1:c.*1191C= ENSP00000508318.1:n.*1191C=
ENST00000683522.1:n.4269C=
ENST00000683562.1:c.*2223C= ENSP00000508265.1:n.*2223C=
ENST00000683693.1:n.4716C=
ENST00000683725.1:c.4054C= ENSP00000507496.1:p.Arg1352=
ENST00000684010.1:n.4264C=
ENST00000684157.1:n.4269C=
ENST00000684253.1:n.4172C=
ENST00000684288.1:c.*2226C= ENSP00000507143.1:n.*2226C=
ENST00000684313.1:n.3701C=
ENST00000684332.1:n.4342C=
ENST00000684371.1:n.4375C=
ENST00000684404.1:n.4312C=
ENST00000684442.1:n.4493C=
ENST00000684555.1:c.*2266C= ENSP00000507705.1:n.*2266C=
ENST00000684571.1:c.3895C= ENSP00000506935.1:p.Arg1299=
ENST00000684593.1:c.*3759C= ENSP00000507005.1:n.*3759C=
ENST00000684711.1:c.*2450C= ENSP00000506841.1:n.*2450C=
ENST00000302539.9:c.4057C= ENSP00000303960.4:p.Arg1353=
ENST00000389817.8:c.4054C= MANE Select ENSP00000374467.4:p.Arg1352=
ENST00000642271.1:c.4051C= ENSP00000493749.1:p.Arg1351=
ENST00000642579.1:c.2108C=
ENST00000642611.1:n.4154C=
ENST00000642902.1:c.3836C=
ENST00000643260.1:c.4054C= ENSP00000494450.1:p.Arg1352=
ENST00000643562.1:c.*2176C= ENSP00000496124.1:n.*2176C=
ENST00000643925.1:c.2694C=
ENST00000644057.1:n.131C=
ENST00000644484.1:c.*2455C= ENSP00000493558.1:n.*2455C=
ENST00000644675.1:c.*2226C= ENSP00000494567.1:n.*2226C=
ENST00000644757.1:c.*2485C= ENSP00000495085.1:n.*2485C=
ENST00000644772.1:c.4120C= ENSP00000494321.1:p.Arg1374=
ENST00000645004.1:n.1709C=
ENST00000645076.1:c.3253C=
ENST00000645417.1:c.1242C=
ENST00000645744.1:c.*2834C= ENSP00000494564.1:n.*2834C=
ENST00000645760.1:c.4475C=
ENST00000645884.1:c.*1337C= ENSP00000495516.1:n.*1337C=
ENST00000646003.1:c.*2156C= ENSP00000495259.1:n.*2156C=
ENST00000646207.1:c.*2891C= ENSP00000495025.1:n.*2891C=
ENST00000646276.1:c.*2473C= ENSP00000496070.1:n.*2473C=
ENST00000646592.1:c.3360C=
ENST00000646902.1:c.4021C= ENSP00000494101.1:p.Arg1341=
ENST00000646993.1:c.*2596C= ENSP00000493720.1:n.*2596C=
ENST00000647013.1:c.4060C= ENSP00000496741.1:n.4060C=
ENST00000647015.1:c.3805C= ENSP00000495389.1:p.Arg1269=
ENST00000647086.1:c.*3640C= ENSP00000493677.1:n.*3640C=
ENST00000647158.1:c.*2341C= ENSP00000495744.1:n.*2341C=
ENST00000302539.8:c.4057C= ENSP00000303960.4:p.Arg1353=
ENST00000389817.7:c.4054C= ENSP00000374467.3:p.Arg1352=
ENST00000527905.5:c.*1076C= ENSP00000431653.1:n.*1076C=
ENST00000528374.1:c.536C=
ENST00000531137.1:n.619C=
ENST00000531891.1:c.392C=
ENST00000532220.1:n.528C=
NM_000352.4:c.4054C= NP_000343.2:p.Arg1352=
NM_001287174.1:c.4057C= NP_001274103.1:p.Arg1353=
XM_011520331.1:c.4054C= XP_011518633.1:p.Arg1352=
XM_011520332.1:c.4057C= XP_011518634.1:p.Arg1353=
XM_011520333.1:c.2554C= XP_011518635.1:p.Arg852=
XR_930890.1:n.4120C=
NM_001351295.1:c.4120C= NP_001338224.1:p.Arg1374=
NM_001351296.1:c.4054C= NP_001338225.1:p.Arg1352=
NM_001351297.1:c.4051C= NP_001338226.1:p.Arg1351=
NR_147094.1:n.4349C=
XM_017018197.2:c.4123C= XP_016873686.1:p.Arg1375=
XM_017018199.1:c.4120C= XP_016873688.1:p.Arg1374=
XM_017018201.2:c.4123C= XP_016873690.1:p.Arg1375=
XM_017018202.1:c.2620C= XP_016873691.1:p.Arg874=
XM_017018204.1:c.2011C= XP_016873693.1:p.Arg671=
XM_024448668.1:c.2422C= XP_024304436.1:p.Arg808=
XR_001747945.2:n.4195C=
XR_001747946.2:n.4126C=
XR_002957189.1:n.4791C=
NM_000352.6:c.4054C= MANE Select NP_000343.2:p.Arg1352=
NM_001287174.2:c.4057C= NP_001274103.1:p.Arg1353=
NM_001351295.2:c.4120C= NP_001338224.1:p.Arg1374=
NM_001351296.2:c.4054C= NP_001338225.1:p.Arg1352=
NM_001351297.2:c.4051C= NP_001338226.1:p.Arg1351=
NR_147094.2:n.4349C=
NM_001287174.3:c.4057C= NP_001274103.1:p.Arg1353=