Canonical Allele Identifier: CA379787223
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395702A>C , CM000673.2:g.17395702A>C GRCh38
NC_000011.9:g.17417249A>C , CM000673.1:g.17417249A>C GRCh37
NC_000011.8:g.17373825A>C NCBI36
NG_008867.1:g.86201T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3816T>G
ENST00000528374.2:c.806T>G
ENST00000529967.6:n.2554T>G
ENST00000532220.2:n.3448T>G
ENST00000642611.2:n.5548T>G
ENST00000644057.2:n.791T>G
ENST00000645004.2:n.1714T>G
ENST00000682051.1:n.4377T>G
ENST00000682110.1:n.4430T>G
ENST00000682140.1:c.*1T>G ENSP00000507829.1:n.*1T>G
ENST00000682185.1:n.5520T>G
ENST00000682204.1:c.*2353T>G ENSP00000507094.1:n.*2353T>G
ENST00000682215.1:n.4797T>G
ENST00000682288.1:c.*2646T>G ENSP00000507506.1:n.*2646T>G
ENST00000682442.1:n.4650T>G
ENST00000682528.1:n.4507T>G
ENST00000682673.1:n.4374T>G
ENST00000682805.1:n.4835T>G
ENST00000682965.1:c.*637T>G ENSP00000508229.1:n.*637T>G
ENST00000683093.1:n.5514T>G
ENST00000683136.1:c.4098T>G ENSP00000507768.1:p.Asp1366Glu
ENST00000683153.1:n.4472T>G
ENST00000683365.1:n.4532T>G
ENST00000683377.1:n.4430T>G
ENST00000683456.1:c.*1352T>G ENSP00000508318.1:n.*1352T>G
ENST00000683522.1:n.4430T>G
ENST00000683562.1:c.*2384T>G ENSP00000508265.1:n.*2384T>G
ENST00000683693.1:n.5995T>G
ENST00000683725.1:c.4215T>G ENSP00000507496.1:p.Asp1405Glu
ENST00000684010.1:n.4425T>G
ENST00000684157.1:n.5415T>G
ENST00000684253.1:n.4333T>G
ENST00000684288.1:c.*2387T>G ENSP00000507143.1:n.*2387T>G
ENST00000684313.1:n.3862T>G
ENST00000684332.1:n.4503T>G
ENST00000684371.1:n.4536T>G
ENST00000684404.1:n.5458T>G
ENST00000684442.1:n.4654T>G
ENST00000684555.1:c.*2427T>G ENSP00000507705.1:n.*2427T>G
ENST00000684571.1:c.4056T>G ENSP00000506935.1:p.Asp1352Glu
ENST00000684593.1:c.*3920T>G ENSP00000507005.1:n.*3920T>G
ENST00000684711.1:c.*2611T>G ENSP00000506841.1:n.*2611T>G
ENST00000302539.9:c.4218T>G ENSP00000303960.4:p.Asp1406Glu
ENST00000389817.8:c.4215T>G MANE Select ENSP00000374467.4:p.Asp1405Glu
ENST00000642271.1:c.4212T>G ENSP00000493749.1:p.Asp1404Glu
ENST00000642579.1:c.2269T>G
ENST00000642611.1:n.5433T>G
ENST00000642902.1:c.3997T>G
ENST00000643260.1:c.4215T>G ENSP00000494450.1:p.Asp1405Glu
ENST00000643562.1:c.*2337T>G ENSP00000496124.1:n.*2337T>G
ENST00000643925.1:c.2855T>G
ENST00000644057.1:n.292T>G
ENST00000644484.1:c.*3601T>G ENSP00000493558.1:n.*3601T>G
ENST00000644675.1:c.*2387T>G ENSP00000494567.1:n.*2387T>G
ENST00000644757.1:c.*3202+562T>G ENSP00000495085.1:n.*3202+562T>G
ENST00000644772.1:c.4281T>G ENSP00000494321.1:p.Asp1427Glu
ENST00000645004.1:n.1908T>G
ENST00000645076.1:c.3414T>G
ENST00000645417.1:c.1403T>G
ENST00000645744.1:c.*3964-64T>G ENSP00000494564.1:n.*3964-64T>G
ENST00000645760.1:c.4636T>G
ENST00000645884.1:c.*1498T>G ENSP00000495516.1:n.*1498T>G
ENST00000646003.1:c.*2301-64T>G ENSP00000495259.1:n.*2301-64T>G
ENST00000646207.1:c.*3052T>G ENSP00000495025.1:n.*3052T>G
ENST00000646276.1:c.*3619T>G ENSP00000496070.1:n.*3619T>G
ENST00000646592.1:c.3521T>G
ENST00000646902.1:c.4182T>G ENSP00000494101.1:p.Asp1394Glu
ENST00000646993.1:c.*2757T>G ENSP00000493720.1:n.*2757T>G
ENST00000647013.1:c.4221T>G ENSP00000496741.1:n.4221T>G
ENST00000647015.1:c.3966T>G ENSP00000495389.1:p.Asp1322Glu
ENST00000647086.1:c.*3801T>G ENSP00000493677.1:n.*3801T>G
ENST00000647158.1:c.*2502T>G ENSP00000495744.1:n.*2502T>G
ENST00000302539.8:c.4218T>G ENSP00000303960.4:p.Asp1406Glu
ENST00000389817.7:c.4215T>G ENSP00000374467.3:p.Asp1405Glu
ENST00000525022.1:n.214T>G
ENST00000526037.5:n.79T>G
ENST00000526168.5:c.67-64T>G
ENST00000531642.5:c.51T>G
NM_000352.4:c.4215T>G NP_000343.2:p.Asp1405Glu
NM_001287174.1:c.4218T>G NP_001274103.1:p.Asp1406Glu
XM_011520331.1:c.4215T>G XP_011518633.1:p.Asp1405Glu
XM_011520332.1:c.4218T>G XP_011518634.1:p.Asp1406Glu
XM_011520333.1:c.2715T>G XP_011518635.1:p.Asp905Glu
XR_930890.1:n.4281T>G
NM_001351295.1:c.4281T>G NP_001338224.1:p.Asp1427Glu
NM_001351296.1:c.4215T>G NP_001338225.1:p.Asp1405Glu
NM_001351297.1:c.4212T>G NP_001338226.1:p.Asp1404Glu
NR_147094.1:n.4510T>G
XM_017018197.2:c.4284T>G XP_016873686.1:p.Asp1428Glu
XM_017018199.1:c.4281T>G XP_016873688.1:p.Asp1427Glu
XM_017018201.2:c.4284T>G XP_016873690.1:p.Asp1428Glu
XM_017018202.1:c.2781T>G XP_016873691.1:p.Asp927Glu
XM_017018204.1:c.2172T>G XP_016873693.1:p.Asp724Glu
XM_024448668.1:c.2583T>G XP_024304436.1:p.Asp861Glu
XR_001747945.2:n.4356T>G
XR_001747946.2:n.4287T>G
XR_002957189.1:n.6070T>G
NM_000352.6:c.4215T>G MANE Select NP_000343.2:p.Asp1405Glu
NM_001287174.2:c.4218T>G NP_001274103.1:p.Asp1406Glu
NM_001351295.2:c.4281T>G NP_001338224.1:p.Asp1427Glu
NM_001351296.2:c.4215T>G NP_001338225.1:p.Asp1405Glu
NM_001351297.2:c.4212T>G NP_001338226.1:p.Asp1404Glu
NR_147094.2:n.4510T>G
NM_001287174.3:c.4218T>G NP_001274103.1:p.Asp1406Glu