Canonical Allele Identifier: CA1955123925
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396985G= , CM000673.2:g.17396985G= GRCh38
NC_000011.9:g.17418532G= , CM000673.1:g.17418532G= GRCh37
NC_000011.8:g.17375108G= NCBI36
NG_008867.1:g.84918C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3651C=
ENST00000528374.2:c.641C=
ENST00000529967.6:n.2389C=
ENST00000532220.2:n.2298C=
ENST00000642611.2:n.4265C=
ENST00000644057.2:n.493C=
ENST00000645004.2:n.1549C=
ENST00000682051.1:n.4212C=
ENST00000682110.1:n.4265C=
ENST00000682140.1:c.3985+208C= ENSP00000507829.1:n.3985+208C=
ENST00000682185.1:n.5355C=
ENST00000682204.1:c.*2188C= ENSP00000507094.1:n.*2188C=
ENST00000682215.1:n.4632C=
ENST00000682288.1:c.*2481C= ENSP00000507506.1:n.*2481C=
ENST00000682442.1:n.4485C=
ENST00000682528.1:n.4342C=
ENST00000682673.1:n.4209C=
ENST00000682805.1:n.4632C=
ENST00000682965.1:c.*472C= ENSP00000508229.1:n.*472C=
ENST00000683093.1:n.4364C=
ENST00000683136.1:c.3933C= ENSP00000507768.1:p.Ser1311=
ENST00000683153.1:n.4307C=
ENST00000683365.1:n.4367C=
ENST00000683377.1:n.4265C=
ENST00000683456.1:c.*1187C= ENSP00000508318.1:n.*1187C=
ENST00000683522.1:n.4265C=
ENST00000683562.1:c.*2219C= ENSP00000508265.1:n.*2219C=
ENST00000683693.1:n.4712C=
ENST00000683725.1:c.4050C= ENSP00000507496.1:p.Ser1350=
ENST00000684010.1:n.4260C=
ENST00000684157.1:n.4265C=
ENST00000684253.1:n.4168C=
ENST00000684288.1:c.*2222C= ENSP00000507143.1:n.*2222C=
ENST00000684313.1:n.3697C=
ENST00000684332.1:n.4338C=
ENST00000684371.1:n.4371C=
ENST00000684404.1:n.4308C=
ENST00000684442.1:n.4489C=
ENST00000684555.1:c.*2262C= ENSP00000507705.1:n.*2262C=
ENST00000684571.1:c.3891C= ENSP00000506935.1:p.Ser1297=
ENST00000684593.1:c.*3755C= ENSP00000507005.1:n.*3755C=
ENST00000684711.1:c.*2446C= ENSP00000506841.1:n.*2446C=
ENST00000302539.9:c.4053C= ENSP00000303960.4:p.Ser1351=
ENST00000389817.8:c.4050C= MANE Select ENSP00000374467.4:p.Ser1350=
ENST00000642271.1:c.4047C= ENSP00000493749.1:p.Ser1349=
ENST00000642579.1:c.2104C=
ENST00000642611.1:n.4150C=
ENST00000642902.1:c.3832C=
ENST00000643260.1:c.4050C= ENSP00000494450.1:p.Ser1350=
ENST00000643562.1:c.*2172C= ENSP00000496124.1:n.*2172C=
ENST00000643925.1:c.2690C=
ENST00000644057.1:n.127C=
ENST00000644484.1:c.*2451C= ENSP00000493558.1:n.*2451C=
ENST00000644675.1:c.*2222C= ENSP00000494567.1:n.*2222C=
ENST00000644757.1:c.*2481C= ENSP00000495085.1:n.*2481C=
ENST00000644772.1:c.4116C= ENSP00000494321.1:p.Ser1372=
ENST00000645004.1:n.1705C=
ENST00000645076.1:c.3249C=
ENST00000645417.1:c.1238C=
ENST00000645744.1:c.*2830C= ENSP00000494564.1:n.*2830C=
ENST00000645760.1:c.4471C=
ENST00000645884.1:c.*1333C= ENSP00000495516.1:n.*1333C=
ENST00000646003.1:c.*2152C= ENSP00000495259.1:n.*2152C=
ENST00000646207.1:c.*2887C= ENSP00000495025.1:n.*2887C=
ENST00000646276.1:c.*2469C= ENSP00000496070.1:n.*2469C=
ENST00000646592.1:c.3356C=
ENST00000646902.1:c.4017C= ENSP00000494101.1:p.Ser1339=
ENST00000646993.1:c.*2592C= ENSP00000493720.1:n.*2592C=
ENST00000647013.1:c.4056C= ENSP00000496741.1:n.4056C=
ENST00000647015.1:c.3801C= ENSP00000495389.1:p.Ser1267=
ENST00000647086.1:c.*3636C= ENSP00000493677.1:n.*3636C=
ENST00000647158.1:c.*2337C= ENSP00000495744.1:n.*2337C=
ENST00000302539.8:c.4053C= ENSP00000303960.4:p.Ser1351=
ENST00000389817.7:c.4050C= ENSP00000374467.3:p.Ser1350=
ENST00000527905.5:c.*1072C= ENSP00000431653.1:n.*1072C=
ENST00000528374.1:c.532C=
ENST00000531137.1:n.615C=
ENST00000531891.1:c.388C=
ENST00000532220.1:n.524C=
NM_000352.4:c.4050C= NP_000343.2:p.Ser1350=
NM_001287174.1:c.4053C= NP_001274103.1:p.Ser1351=
XM_011520331.1:c.4050C= XP_011518633.1:p.Ser1350=
XM_011520332.1:c.4053C= XP_011518634.1:p.Ser1351=
XM_011520333.1:c.2550C= XP_011518635.1:p.Ser850=
XR_930890.1:n.4116C=
NM_001351295.1:c.4116C= NP_001338224.1:p.Ser1372=
NM_001351296.1:c.4050C= NP_001338225.1:p.Ser1350=
NM_001351297.1:c.4047C= NP_001338226.1:p.Ser1349=
NR_147094.1:n.4345C=
XM_017018197.2:c.4119C= XP_016873686.1:p.Ser1373=
XM_017018199.1:c.4116C= XP_016873688.1:p.Ser1372=
XM_017018201.2:c.4119C= XP_016873690.1:p.Ser1373=
XM_017018202.1:c.2616C= XP_016873691.1:p.Ser872=
XM_017018204.1:c.2007C= XP_016873693.1:p.Ser669=
XM_024448668.1:c.2418C= XP_024304436.1:p.Ser806=
XR_001747945.2:n.4191C=
XR_001747946.2:n.4122C=
XR_002957189.1:n.4787C=
NM_000352.6:c.4050C= MANE Select NP_000343.2:p.Ser1350=
NM_001287174.2:c.4053C= NP_001274103.1:p.Ser1351=
NM_001351295.2:c.4116C= NP_001338224.1:p.Ser1372=
NM_001351296.2:c.4050C= NP_001338225.1:p.Ser1350=
NM_001351297.2:c.4047C= NP_001338226.1:p.Ser1349=
NR_147094.2:n.4345C=
NM_001287174.3:c.4053C= NP_001274103.1:p.Ser1351=