Canonical Allele Identifier: CA1955123917
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396965A= , CM000673.2:g.17396965A= GRCh38
NC_000011.9:g.17418512A= , CM000673.1:g.17418512A= GRCh37
NC_000011.8:g.17375088A= NCBI36
NG_008867.1:g.84938T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3671T=
ENST00000528374.2:c.661T=
ENST00000529967.6:n.2409T=
ENST00000532220.2:n.2318T=
ENST00000642611.2:n.4285T=
ENST00000644057.2:n.513T=
ENST00000645004.2:n.1569T=
ENST00000682051.1:n.4232T=
ENST00000682110.1:n.4285T=
ENST00000682140.1:c.3985+228T= ENSP00000507829.1:n.3985+228T=
ENST00000682185.1:n.5375T=
ENST00000682204.1:c.*2208T= ENSP00000507094.1:n.*2208T=
ENST00000682215.1:n.4652T=
ENST00000682288.1:c.*2501T= ENSP00000507506.1:n.*2501T=
ENST00000682442.1:n.4505T=
ENST00000682528.1:n.4362T=
ENST00000682673.1:n.4229T=
ENST00000682805.1:n.4652T=
ENST00000682965.1:c.*492T= ENSP00000508229.1:n.*492T=
ENST00000683093.1:n.4384T=
ENST00000683136.1:c.3953T= ENSP00000507768.1:p.Leu1318=
ENST00000683153.1:n.4327T=
ENST00000683365.1:n.4387T=
ENST00000683377.1:n.4285T=
ENST00000683456.1:c.*1207T= ENSP00000508318.1:n.*1207T=
ENST00000683522.1:n.4285T=
ENST00000683562.1:c.*2239T= ENSP00000508265.1:n.*2239T=
ENST00000683693.1:n.4732T=
ENST00000683725.1:c.4070T= ENSP00000507496.1:p.Leu1357=
ENST00000684010.1:n.4280T=
ENST00000684157.1:n.4285T=
ENST00000684253.1:n.4188T=
ENST00000684288.1:c.*2242T= ENSP00000507143.1:n.*2242T=
ENST00000684313.1:n.3717T=
ENST00000684332.1:n.4358T=
ENST00000684371.1:n.4391T=
ENST00000684404.1:n.4328T=
ENST00000684442.1:n.4509T=
ENST00000684555.1:c.*2282T= ENSP00000507705.1:n.*2282T=
ENST00000684571.1:c.3911T= ENSP00000506935.1:p.Leu1304=
ENST00000684593.1:c.*3775T= ENSP00000507005.1:n.*3775T=
ENST00000684711.1:c.*2466T= ENSP00000506841.1:n.*2466T=
ENST00000302539.9:c.4073T= ENSP00000303960.4:p.Leu1358=
ENST00000389817.8:c.4070T= MANE Select ENSP00000374467.4:p.Leu1357=
ENST00000642271.1:c.4067T= ENSP00000493749.1:p.Leu1356=
ENST00000642579.1:c.2124T=
ENST00000642611.1:n.4170T=
ENST00000642902.1:c.3852T=
ENST00000643260.1:c.4070T= ENSP00000494450.1:p.Leu1357=
ENST00000643562.1:c.*2192T= ENSP00000496124.1:n.*2192T=
ENST00000643925.1:c.2710T=
ENST00000644057.1:n.147T=
ENST00000644484.1:c.*2471T= ENSP00000493558.1:n.*2471T=
ENST00000644675.1:c.*2242T= ENSP00000494567.1:n.*2242T=
ENST00000644757.1:c.*2501T= ENSP00000495085.1:n.*2501T=
ENST00000644772.1:c.4136T= ENSP00000494321.1:p.Leu1379=
ENST00000645004.1:n.1725T=
ENST00000645076.1:c.3269T=
ENST00000645417.1:c.1258T=
ENST00000645744.1:c.*2850T= ENSP00000494564.1:n.*2850T=
ENST00000645760.1:c.4491T=
ENST00000645884.1:c.*1353T= ENSP00000495516.1:n.*1353T=
ENST00000646003.1:c.*2172T= ENSP00000495259.1:n.*2172T=
ENST00000646207.1:c.*2907T= ENSP00000495025.1:n.*2907T=
ENST00000646276.1:c.*2489T= ENSP00000496070.1:n.*2489T=
ENST00000646592.1:c.3376T=
ENST00000646902.1:c.4037T= ENSP00000494101.1:p.Leu1346=
ENST00000646993.1:c.*2612T= ENSP00000493720.1:n.*2612T=
ENST00000647013.1:c.4076T= ENSP00000496741.1:n.4076T=
ENST00000647015.1:c.3821T= ENSP00000495389.1:p.Leu1274=
ENST00000647086.1:c.*3656T= ENSP00000493677.1:n.*3656T=
ENST00000647158.1:c.*2357T= ENSP00000495744.1:n.*2357T=
ENST00000302539.8:c.4073T= ENSP00000303960.4:p.Leu1358=
ENST00000389817.7:c.4070T= ENSP00000374467.3:p.Leu1357=
ENST00000527905.5:c.*1092T= ENSP00000431653.1:n.*1092T=
ENST00000528374.1:c.552T=
ENST00000531137.1:n.635T=
ENST00000531891.1:c.408T=
ENST00000532220.1:n.544T=
NM_000352.4:c.4070T= NP_000343.2:p.Leu1357=
NM_001287174.1:c.4073T= NP_001274103.1:p.Leu1358=
XM_011520331.1:c.4070T= XP_011518633.1:p.Leu1357=
XM_011520332.1:c.4073T= XP_011518634.1:p.Leu1358=
XM_011520333.1:c.2570T= XP_011518635.1:p.Leu857=
XR_930890.1:n.4136T=
NM_001351295.1:c.4136T= NP_001338224.1:p.Leu1379=
NM_001351296.1:c.4070T= NP_001338225.1:p.Leu1357=
NM_001351297.1:c.4067T= NP_001338226.1:p.Leu1356=
NR_147094.1:n.4365T=
XM_017018197.2:c.4139T= XP_016873686.1:p.Leu1380=
XM_017018199.1:c.4136T= XP_016873688.1:p.Leu1379=
XM_017018201.2:c.4139T= XP_016873690.1:p.Leu1380=
XM_017018202.1:c.2636T= XP_016873691.1:p.Leu879=
XM_017018204.1:c.2027T= XP_016873693.1:p.Leu676=
XM_024448668.1:c.2438T= XP_024304436.1:p.Leu813=
XR_001747945.2:n.4211T=
XR_001747946.2:n.4142T=
XR_002957189.1:n.4807T=
NM_000352.6:c.4070T= MANE Select NP_000343.2:p.Leu1357=
NM_001287174.2:c.4073T= NP_001274103.1:p.Leu1358=
NM_001351295.2:c.4136T= NP_001338224.1:p.Leu1379=
NM_001351296.2:c.4070T= NP_001338225.1:p.Leu1357=
NM_001351297.2:c.4067T= NP_001338226.1:p.Leu1356=
NR_147094.2:n.4365T=
NM_001287174.3:c.4073T= NP_001274103.1:p.Leu1358=