Canonical Allele Identifier: CA379787779
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395861T>G , CM000673.2:g.17395861T>G GRCh38
NC_000011.9:g.17417408T>G , CM000673.1:g.17417408T>G GRCh37
NC_000011.8:g.17373984T>G NCBI36
NG_008867.1:g.86042A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3790A>C
ENST00000528374.2:c.780A>C
ENST00000529967.6:n.2528A>C
ENST00000532220.2:n.3422A>C
ENST00000642611.2:n.5389A>C
ENST00000644057.2:n.632A>C
ENST00000645004.2:n.1688A>C
ENST00000682051.1:n.4351A>C
ENST00000682110.1:n.4404A>C
ENST00000682140.1:c.4055A>C ENSP00000507829.1:p.His1352Pro
ENST00000682185.1:n.5494A>C
ENST00000682204.1:c.*2327A>C ENSP00000507094.1:n.*2327A>C
ENST00000682215.1:n.4771A>C
ENST00000682288.1:c.*2620A>C ENSP00000507506.1:n.*2620A>C
ENST00000682442.1:n.4624A>C
ENST00000682528.1:n.4481A>C
ENST00000682673.1:n.4348A>C
ENST00000682805.1:n.4809A>C
ENST00000682965.1:c.*611A>C ENSP00000508229.1:n.*611A>C
ENST00000683093.1:n.5488A>C
ENST00000683136.1:c.4072A>C ENSP00000507768.1:p.Thr1358Pro
ENST00000683153.1:n.4446A>C
ENST00000683365.1:n.4506A>C
ENST00000683377.1:n.4404A>C
ENST00000683456.1:c.*1326A>C ENSP00000508318.1:n.*1326A>C
ENST00000683522.1:n.4404A>C
ENST00000683562.1:c.*2358A>C ENSP00000508265.1:n.*2358A>C
ENST00000683693.1:n.5836A>C
ENST00000683725.1:c.4189A>C ENSP00000507496.1:p.Thr1397Pro
ENST00000684010.1:n.4399A>C
ENST00000684157.1:n.5389A>C
ENST00000684253.1:n.4307A>C
ENST00000684288.1:c.*2361A>C ENSP00000507143.1:n.*2361A>C
ENST00000684313.1:n.3836A>C
ENST00000684332.1:n.4477A>C
ENST00000684371.1:n.4510A>C
ENST00000684404.1:n.5432A>C
ENST00000684442.1:n.4628A>C
ENST00000684555.1:c.*2401A>C ENSP00000507705.1:n.*2401A>C
ENST00000684571.1:c.4030A>C ENSP00000506935.1:p.Thr1344Pro
ENST00000684593.1:c.*3894A>C ENSP00000507005.1:n.*3894A>C
ENST00000684711.1:c.*2585A>C ENSP00000506841.1:n.*2585A>C
ENST00000302539.9:c.4192A>C ENSP00000303960.4:p.Thr1398Pro
ENST00000389817.8:c.4189A>C MANE Select ENSP00000374467.4:p.Thr1397Pro
ENST00000642271.1:c.4186A>C ENSP00000493749.1:p.Thr1396Pro
ENST00000642579.1:c.2243A>C
ENST00000642611.1:n.5274A>C
ENST00000642902.1:c.3971A>C
ENST00000643260.1:c.4189A>C ENSP00000494450.1:p.Thr1397Pro
ENST00000643562.1:c.*2311A>C ENSP00000496124.1:n.*2311A>C
ENST00000643925.1:c.2829A>C
ENST00000644057.1:n.266A>C
ENST00000644484.1:c.*3575A>C ENSP00000493558.1:n.*3575A>C
ENST00000644675.1:c.*2361A>C ENSP00000494567.1:n.*2361A>C
ENST00000644757.1:c.*3202+403A>C ENSP00000495085.1:n.*3202+403A>C
ENST00000644772.1:c.4255A>C ENSP00000494321.1:p.Thr1419Pro
ENST00000645004.1:n.1882A>C
ENST00000645076.1:c.3388A>C
ENST00000645417.1:c.1377A>C
ENST00000645744.1:c.*3954A>C ENSP00000494564.1:n.*3954A>C
ENST00000645760.1:c.4610A>C
ENST00000645884.1:c.*1472A>C ENSP00000495516.1:n.*1472A>C
ENST00000646003.1:c.*2291A>C ENSP00000495259.1:n.*2291A>C
ENST00000646207.1:c.*3026A>C ENSP00000495025.1:n.*3026A>C
ENST00000646276.1:c.*3593A>C ENSP00000496070.1:n.*3593A>C
ENST00000646592.1:c.3495A>C
ENST00000646902.1:c.4156A>C ENSP00000494101.1:p.Thr1386Pro
ENST00000646993.1:c.*2731A>C ENSP00000493720.1:n.*2731A>C
ENST00000647013.1:c.4195A>C ENSP00000496741.1:n.4195A>C
ENST00000647015.1:c.3940A>C ENSP00000495389.1:p.Thr1314Pro
ENST00000647086.1:c.*3775A>C ENSP00000493677.1:n.*3775A>C
ENST00000647158.1:c.*2476A>C ENSP00000495744.1:n.*2476A>C
ENST00000302539.8:c.4192A>C ENSP00000303960.4:p.Thr1398Pro
ENST00000389817.7:c.4189A>C ENSP00000374467.3:p.Thr1397Pro
ENST00000525022.1:n.55A>C
ENST00000526168.5:c.57A>C
ENST00000531642.5:c.25A>C
NM_000352.4:c.4189A>C NP_000343.2:p.Thr1397Pro
NM_001287174.1:c.4192A>C NP_001274103.1:p.Thr1398Pro
XM_011520331.1:c.4189A>C XP_011518633.1:p.Thr1397Pro
XM_011520332.1:c.4192A>C XP_011518634.1:p.Thr1398Pro
XM_011520333.1:c.2689A>C XP_011518635.1:p.Thr897Pro
XR_930890.1:n.4255A>C
NM_001351295.1:c.4255A>C NP_001338224.1:p.Thr1419Pro
NM_001351296.1:c.4189A>C NP_001338225.1:p.Thr1397Pro
NM_001351297.1:c.4186A>C NP_001338226.1:p.Thr1396Pro
NR_147094.1:n.4484A>C
XM_017018197.2:c.4258A>C XP_016873686.1:p.Thr1420Pro
XM_017018199.1:c.4255A>C XP_016873688.1:p.Thr1419Pro
XM_017018201.2:c.4258A>C XP_016873690.1:p.Thr1420Pro
XM_017018202.1:c.2755A>C XP_016873691.1:p.Thr919Pro
XM_017018204.1:c.2146A>C XP_016873693.1:p.Thr716Pro
XM_024448668.1:c.2557A>C XP_024304436.1:p.Thr853Pro
XR_001747945.2:n.4330A>C
XR_001747946.2:n.4261A>C
XR_002957189.1:n.5911A>C
NM_000352.6:c.4189A>C MANE Select NP_000343.2:p.Thr1397Pro
NM_001287174.2:c.4192A>C NP_001274103.1:p.Thr1398Pro
NM_001351295.2:c.4255A>C NP_001338224.1:p.Thr1419Pro
NM_001351296.2:c.4189A>C NP_001338225.1:p.Thr1397Pro
NM_001351297.2:c.4186A>C NP_001338226.1:p.Thr1396Pro
NR_147094.2:n.4484A>C
NM_001287174.3:c.4192A>C NP_001274103.1:p.Thr1398Pro