Canonical Allele Identifier: CA379783581
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394370A>T , CM000673.2:g.17394370A>T GRCh38
NC_000011.9:g.17415917A>T , CM000673.1:g.17415917A>T GRCh37
NC_000011.8:g.17372493A>T NCBI36
NG_008867.1:g.87533T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4042T>A
ENST00000526037.6:n.376T>A
ENST00000528374.2:c.1032T>A
ENST00000529967.6:n.2780T>A
ENST00000532220.2:n.3674T>A
ENST00000642611.2:n.5774T>A
ENST00000644057.2:n.1017T>A
ENST00000645004.2:n.1940T>A
ENST00000682051.1:n.4603T>A
ENST00000682110.1:n.4656T>A
ENST00000682140.1:c.*227T>A ENSP00000507829.1:n.*227T>A
ENST00000682185.1:n.5746T>A
ENST00000682204.1:c.*2579T>A ENSP00000507094.1:n.*2579T>A
ENST00000682215.1:n.5023T>A
ENST00000682288.1:c.*2872T>A ENSP00000507506.1:n.*2872T>A
ENST00000682442.1:n.4876T>A
ENST00000682528.1:n.4733T>A
ENST00000682673.1:n.4600T>A
ENST00000682805.1:n.5061T>A
ENST00000682965.1:c.*863T>A ENSP00000508229.1:n.*863T>A
ENST00000683093.1:n.5636T>A
ENST00000683136.1:c.4324T>A ENSP00000507768.1:p.Phe1442Ile
ENST00000683153.1:n.4698T>A
ENST00000683365.1:n.4758T>A
ENST00000683377.1:n.4552T>A
ENST00000683456.1:c.*1578T>A ENSP00000508318.1:n.*1578T>A
ENST00000683522.1:n.4738T>A
ENST00000683562.1:c.*2506T>A ENSP00000508265.1:n.*2506T>A
ENST00000683693.1:n.6117T>A
ENST00000683725.1:c.4337T>A ENSP00000507496.1:p.Phe1446Tyr
ENST00000684010.1:n.4651T>A
ENST00000684014.1:n.628T>A
ENST00000684157.1:n.5641T>A
ENST00000684253.1:n.4559T>A
ENST00000684288.1:c.*2613T>A ENSP00000507143.1:n.*2613T>A
ENST00000684313.1:n.4088T>A
ENST00000684332.1:n.4729T>A
ENST00000684371.1:n.4762T>A
ENST00000684404.1:n.5684T>A
ENST00000684442.1:n.4880T>A
ENST00000684555.1:c.*2653T>A ENSP00000507705.1:n.*2653T>A
ENST00000684571.1:c.4282T>A ENSP00000506935.1:p.Phe1428Ile
ENST00000684593.1:c.*4146T>A ENSP00000507005.1:n.*4146T>A
ENST00000684711.1:c.*2837T>A ENSP00000506841.1:n.*2837T>A
ENST00000302539.9:c.4444T>A ENSP00000303960.4:p.Phe1482Ile
ENST00000389817.8:c.4441T>A MANE Select ENSP00000374467.4:p.Phe1481Ile
ENST00000642271.1:c.4438T>A ENSP00000493749.1:p.Phe1480Ile
ENST00000642579.1:c.2495T>A
ENST00000642611.1:n.5659T>A
ENST00000642902.1:c.4223T>A
ENST00000643260.1:c.4441T>A ENSP00000494450.1:p.Phe1481Ile
ENST00000643562.1:c.*2563T>A ENSP00000496124.1:n.*2563T>A
ENST00000643925.1:c.3081T>A
ENST00000644057.1:n.600T>A
ENST00000644484.1:c.*3827T>A ENSP00000493558.1:n.*3827T>A
ENST00000644675.1:c.*2613T>A ENSP00000494567.1:n.*2613T>A
ENST00000644757.1:c.*3203-1390T>A ENSP00000495085.1:n.*3203-1390T>A
ENST00000644772.1:c.4507T>A ENSP00000494321.1:p.Phe1503Ile
ENST00000645004.1:n.2134T>A
ENST00000645076.1:c.3536T>A
ENST00000645417.1:c.1629T>A
ENST00000645744.1:c.*4126T>A ENSP00000494564.1:n.*4126T>A
ENST00000645760.1:c.4862T>A
ENST00000645884.1:c.*1724T>A ENSP00000495516.1:n.*1724T>A
ENST00000646003.1:c.*2463T>A ENSP00000495259.1:n.*2463T>A
ENST00000646207.1:c.*3278T>A ENSP00000495025.1:n.*3278T>A
ENST00000646276.1:c.*3845T>A ENSP00000496070.1:n.*3845T>A
ENST00000646592.1:c.3747T>A
ENST00000646902.1:c.4408T>A ENSP00000494101.1:p.Phe1470Ile
ENST00000646993.1:c.*2879T>A ENSP00000493720.1:n.*2879T>A
ENST00000647013.1:c.4447T>A ENSP00000496741.1:n.4447T>A
ENST00000647015.1:c.4192T>A ENSP00000495389.1:p.Phe1398Ile
ENST00000647086.1:c.*4027T>A ENSP00000493677.1:n.*4027T>A
ENST00000647158.1:c.*2728T>A ENSP00000495744.1:n.*2728T>A
ENST00000302539.8:c.4444T>A ENSP00000303960.4:p.Phe1482Ile
ENST00000389817.7:c.4441T>A ENSP00000374467.3:p.Phe1481Ile
ENST00000525022.1:n.336T>A
ENST00000526037.5:n.201T>A
ENST00000526168.5:c.229T>A
ENST00000531642.5:c.472T>A
NM_000352.4:c.4441T>A NP_000343.2:p.Phe1481Ile
NM_001287174.1:c.4444T>A NP_001274103.1:p.Phe1482Ile
XM_011520331.1:c.4441T>A XP_011518633.1:p.Phe1481Ile
XM_011520332.1:c.4340T>A XP_011518634.1:p.Phe1447Tyr
XM_011520333.1:c.2941T>A XP_011518635.1:p.Phe981Ile
XR_930890.1:n.4403T>A
NM_001351295.1:c.4507T>A NP_001338224.1:p.Phe1503Ile
NM_001351296.1:c.4441T>A NP_001338225.1:p.Phe1481Ile
NM_001351297.1:c.4438T>A NP_001338226.1:p.Phe1480Ile
NR_147094.1:n.4736T>A
XM_017018197.2:c.4510T>A XP_016873686.1:p.Phe1504Ile
XM_017018199.1:c.4507T>A XP_016873688.1:p.Phe1503Ile
XM_017018201.2:c.4406T>A XP_016873690.1:p.Phe1469Tyr
XM_017018202.1:c.3007T>A XP_016873691.1:p.Phe1003Ile
XM_017018204.1:c.2398T>A XP_016873693.1:p.Phe800Ile
XM_024448668.1:c.2809T>A XP_024304436.1:p.Phe937Ile
XR_001747945.2:n.4478T>A
XR_001747946.2:n.4409T>A
XR_002957189.1:n.6192T>A
NM_000352.6:c.4441T>A MANE Select NP_000343.2:p.Phe1481Ile
NM_001287174.2:c.4444T>A NP_001274103.1:p.Phe1482Ile
NM_001351295.2:c.4507T>A NP_001338224.1:p.Phe1503Ile
NM_001351296.2:c.4441T>A NP_001338225.1:p.Phe1481Ile
NM_001351297.2:c.4438T>A NP_001338226.1:p.Phe1480Ile
NR_147094.2:n.4736T>A
NM_001287174.3:c.4444T>A NP_001274103.1:p.Phe1482Ile