Canonical Allele Identifier: CA1955123926
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396988C= , CM000673.2:g.17396988C= GRCh38
NC_000011.9:g.17418535C= , CM000673.1:g.17418535C= GRCh37
NC_000011.8:g.17375111C= NCBI36
NG_008867.1:g.84915G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3648G=
ENST00000528374.2:c.638G=
ENST00000529967.6:n.2386G=
ENST00000532220.2:n.2295G=
ENST00000642611.2:n.4262G=
ENST00000644057.2:n.490G=
ENST00000645004.2:n.1546G=
ENST00000682051.1:n.4209G=
ENST00000682110.1:n.4262G=
ENST00000682140.1:c.3985+205G= ENSP00000507829.1:n.3985+205G=
ENST00000682185.1:n.5352G=
ENST00000682204.1:c.*2185G= ENSP00000507094.1:n.*2185G=
ENST00000682215.1:n.4629G=
ENST00000682288.1:c.*2478G= ENSP00000507506.1:n.*2478G=
ENST00000682442.1:n.4482G=
ENST00000682528.1:n.4339G=
ENST00000682673.1:n.4206G=
ENST00000682805.1:n.4629G=
ENST00000682965.1:c.*469G= ENSP00000508229.1:n.*469G=
ENST00000683093.1:n.4361G=
ENST00000683136.1:c.3930G= ENSP00000507768.1:p.Leu1310=
ENST00000683153.1:n.4304G=
ENST00000683365.1:n.4364G=
ENST00000683377.1:n.4262G=
ENST00000683456.1:c.*1184G= ENSP00000508318.1:n.*1184G=
ENST00000683522.1:n.4262G=
ENST00000683562.1:c.*2216G= ENSP00000508265.1:n.*2216G=
ENST00000683693.1:n.4709G=
ENST00000683725.1:c.4047G= ENSP00000507496.1:p.Leu1349=
ENST00000684010.1:n.4257G=
ENST00000684157.1:n.4262G=
ENST00000684253.1:n.4165G=
ENST00000684288.1:c.*2219G= ENSP00000507143.1:n.*2219G=
ENST00000684313.1:n.3694G=
ENST00000684332.1:n.4335G=
ENST00000684371.1:n.4368G=
ENST00000684404.1:n.4305G=
ENST00000684442.1:n.4486G=
ENST00000684555.1:c.*2259G= ENSP00000507705.1:n.*2259G=
ENST00000684571.1:c.3888G= ENSP00000506935.1:p.Leu1296=
ENST00000684593.1:c.*3752G= ENSP00000507005.1:n.*3752G=
ENST00000684711.1:c.*2443G= ENSP00000506841.1:n.*2443G=
ENST00000302539.9:c.4050G= ENSP00000303960.4:p.Leu1350=
ENST00000389817.8:c.4047G= MANE Select ENSP00000374467.4:p.Leu1349=
ENST00000642271.1:c.4044G= ENSP00000493749.1:p.Leu1348=
ENST00000642579.1:c.2101G=
ENST00000642611.1:n.4147G=
ENST00000642902.1:c.3829G=
ENST00000643260.1:c.4047G= ENSP00000494450.1:p.Leu1349=
ENST00000643562.1:c.*2169G= ENSP00000496124.1:n.*2169G=
ENST00000643925.1:c.2687G=
ENST00000644057.1:n.124G=
ENST00000644484.1:c.*2448G= ENSP00000493558.1:n.*2448G=
ENST00000644675.1:c.*2219G= ENSP00000494567.1:n.*2219G=
ENST00000644757.1:c.*2478G= ENSP00000495085.1:n.*2478G=
ENST00000644772.1:c.4113G= ENSP00000494321.1:p.Leu1371=
ENST00000645004.1:n.1702G=
ENST00000645076.1:c.3246G=
ENST00000645417.1:c.1235G=
ENST00000645744.1:c.*2827G= ENSP00000494564.1:n.*2827G=
ENST00000645760.1:c.4468G=
ENST00000645884.1:c.*1330G= ENSP00000495516.1:n.*1330G=
ENST00000646003.1:c.*2149G= ENSP00000495259.1:n.*2149G=
ENST00000646207.1:c.*2884G= ENSP00000495025.1:n.*2884G=
ENST00000646276.1:c.*2466G= ENSP00000496070.1:n.*2466G=
ENST00000646592.1:c.3353G=
ENST00000646902.1:c.4014G= ENSP00000494101.1:p.Leu1338=
ENST00000646993.1:c.*2589G= ENSP00000493720.1:n.*2589G=
ENST00000647013.1:c.4053G= ENSP00000496741.1:n.4053G=
ENST00000647015.1:c.3798G= ENSP00000495389.1:p.Leu1266=
ENST00000647086.1:c.*3633G= ENSP00000493677.1:n.*3633G=
ENST00000647158.1:c.*2334G= ENSP00000495744.1:n.*2334G=
ENST00000302539.8:c.4050G= ENSP00000303960.4:p.Leu1350=
ENST00000389817.7:c.4047G= ENSP00000374467.3:p.Leu1349=
ENST00000527905.5:c.*1069G= ENSP00000431653.1:n.*1069G=
ENST00000528374.1:c.529G=
ENST00000531137.1:n.612G=
ENST00000531891.1:c.385G=
ENST00000532220.1:n.521G=
NM_000352.4:c.4047G= NP_000343.2:p.Leu1349=
NM_001287174.1:c.4050G= NP_001274103.1:p.Leu1350=
XM_011520331.1:c.4047G= XP_011518633.1:p.Leu1349=
XM_011520332.1:c.4050G= XP_011518634.1:p.Leu1350=
XM_011520333.1:c.2547G= XP_011518635.1:p.Leu849=
XR_930890.1:n.4113G=
NM_001351295.1:c.4113G= NP_001338224.1:p.Leu1371=
NM_001351296.1:c.4047G= NP_001338225.1:p.Leu1349=
NM_001351297.1:c.4044G= NP_001338226.1:p.Leu1348=
NR_147094.1:n.4342G=
XM_017018197.2:c.4116G= XP_016873686.1:p.Leu1372=
XM_017018199.1:c.4113G= XP_016873688.1:p.Leu1371=
XM_017018201.2:c.4116G= XP_016873690.1:p.Leu1372=
XM_017018202.1:c.2613G= XP_016873691.1:p.Leu871=
XM_017018204.1:c.2004G= XP_016873693.1:p.Leu668=
XM_024448668.1:c.2415G= XP_024304436.1:p.Leu805=
XR_001747945.2:n.4188G=
XR_001747946.2:n.4119G=
XR_002957189.1:n.4784G=
NM_000352.6:c.4047G= MANE Select NP_000343.2:p.Leu1349=
NM_001287174.2:c.4050G= NP_001274103.1:p.Leu1350=
NM_001351295.2:c.4113G= NP_001338224.1:p.Leu1371=
NM_001351296.2:c.4047G= NP_001338225.1:p.Leu1349=
NM_001351297.2:c.4044G= NP_001338226.1:p.Leu1348=
NR_147094.2:n.4342G=
NM_001287174.3:c.4050G= NP_001274103.1:p.Leu1350=