Canonical Allele Identifier: CA379787300
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395705A>C , CM000673.2:g.17395705A>C GRCh38
NC_000011.9:g.17417252A>C , CM000673.1:g.17417252A>C GRCh37
NC_000011.8:g.17373828A>C NCBI36
NG_008867.1:g.86198T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3813T>G
ENST00000528374.2:c.803T>G
ENST00000529967.6:n.2551T>G
ENST00000532220.2:n.3445T>G
ENST00000642611.2:n.5545T>G
ENST00000644057.2:n.788T>G
ENST00000645004.2:n.1711T>G
ENST00000682051.1:n.4374T>G
ENST00000682110.1:n.4427T>G
ENST00000682140.1:c.4078T>G ENSP00000507829.1:p.Ter1360Gly
ENST00000682185.1:n.5517T>G
ENST00000682204.1:c.*2350T>G ENSP00000507094.1:n.*2350T>G
ENST00000682215.1:n.4794T>G
ENST00000682288.1:c.*2643T>G ENSP00000507506.1:n.*2643T>G
ENST00000682442.1:n.4647T>G
ENST00000682528.1:n.4504T>G
ENST00000682673.1:n.4371T>G
ENST00000682805.1:n.4832T>G
ENST00000682965.1:c.*634T>G ENSP00000508229.1:n.*634T>G
ENST00000683093.1:n.5511T>G
ENST00000683136.1:c.4095T>G ENSP00000507768.1:p.Ile1365Met
ENST00000683153.1:n.4469T>G
ENST00000683365.1:n.4529T>G
ENST00000683377.1:n.4427T>G
ENST00000683456.1:c.*1349T>G ENSP00000508318.1:n.*1349T>G
ENST00000683522.1:n.4427T>G
ENST00000683562.1:c.*2381T>G ENSP00000508265.1:n.*2381T>G
ENST00000683693.1:n.5992T>G
ENST00000683725.1:c.4212T>G ENSP00000507496.1:p.Ile1404Met
ENST00000684010.1:n.4422T>G
ENST00000684157.1:n.5412T>G
ENST00000684253.1:n.4330T>G
ENST00000684288.1:c.*2384T>G ENSP00000507143.1:n.*2384T>G
ENST00000684313.1:n.3859T>G
ENST00000684332.1:n.4500T>G
ENST00000684371.1:n.4533T>G
ENST00000684404.1:n.5455T>G
ENST00000684442.1:n.4651T>G
ENST00000684555.1:c.*2424T>G ENSP00000507705.1:n.*2424T>G
ENST00000684571.1:c.4053T>G ENSP00000506935.1:p.Ile1351Met
ENST00000684593.1:c.*3917T>G ENSP00000507005.1:n.*3917T>G
ENST00000684711.1:c.*2608T>G ENSP00000506841.1:n.*2608T>G
ENST00000302539.9:c.4215T>G ENSP00000303960.4:p.Ile1405Met
ENST00000389817.8:c.4212T>G MANE Select ENSP00000374467.4:p.Ile1404Met
ENST00000642271.1:c.4209T>G ENSP00000493749.1:p.Ile1403Met
ENST00000642579.1:c.2266T>G
ENST00000642611.1:n.5430T>G
ENST00000642902.1:c.3994T>G
ENST00000643260.1:c.4212T>G ENSP00000494450.1:p.Ile1404Met
ENST00000643562.1:c.*2334T>G ENSP00000496124.1:n.*2334T>G
ENST00000643925.1:c.2852T>G
ENST00000644057.1:n.289T>G
ENST00000644484.1:c.*3598T>G ENSP00000493558.1:n.*3598T>G
ENST00000644675.1:c.*2384T>G ENSP00000494567.1:n.*2384T>G
ENST00000644757.1:c.*3202+559T>G ENSP00000495085.1:n.*3202+559T>G
ENST00000644772.1:c.4278T>G ENSP00000494321.1:p.Ile1426Met
ENST00000645004.1:n.1905T>G
ENST00000645076.1:c.3411T>G
ENST00000645417.1:c.1400T>G
ENST00000645744.1:c.*3964-67T>G ENSP00000494564.1:n.*3964-67T>G
ENST00000645760.1:c.4633T>G
ENST00000645884.1:c.*1495T>G ENSP00000495516.1:n.*1495T>G
ENST00000646003.1:c.*2301-67T>G ENSP00000495259.1:n.*2301-67T>G
ENST00000646207.1:c.*3049T>G ENSP00000495025.1:n.*3049T>G
ENST00000646276.1:c.*3616T>G ENSP00000496070.1:n.*3616T>G
ENST00000646592.1:c.3518T>G
ENST00000646902.1:c.4179T>G ENSP00000494101.1:p.Ile1393Met
ENST00000646993.1:c.*2754T>G ENSP00000493720.1:n.*2754T>G
ENST00000647013.1:c.4218T>G ENSP00000496741.1:n.4218T>G
ENST00000647015.1:c.3963T>G ENSP00000495389.1:p.Ile1321Met
ENST00000647086.1:c.*3798T>G ENSP00000493677.1:n.*3798T>G
ENST00000647158.1:c.*2499T>G ENSP00000495744.1:n.*2499T>G
ENST00000302539.8:c.4215T>G ENSP00000303960.4:p.Ile1405Met
ENST00000389817.7:c.4212T>G ENSP00000374467.3:p.Ile1404Met
ENST00000525022.1:n.211T>G
ENST00000526037.5:n.76T>G
ENST00000526168.5:c.67-67T>G
ENST00000531642.5:c.48T>G
NM_000352.4:c.4212T>G NP_000343.2:p.Ile1404Met
NM_001287174.1:c.4215T>G NP_001274103.1:p.Ile1405Met
XM_011520331.1:c.4212T>G XP_011518633.1:p.Ile1404Met
XM_011520332.1:c.4215T>G XP_011518634.1:p.Ile1405Met
XM_011520333.1:c.2712T>G XP_011518635.1:p.Ile904Met
XR_930890.1:n.4278T>G
NM_001351295.1:c.4278T>G NP_001338224.1:p.Ile1426Met
NM_001351296.1:c.4212T>G NP_001338225.1:p.Ile1404Met
NM_001351297.1:c.4209T>G NP_001338226.1:p.Ile1403Met
NR_147094.1:n.4507T>G
XM_017018197.2:c.4281T>G XP_016873686.1:p.Ile1427Met
XM_017018199.1:c.4278T>G XP_016873688.1:p.Ile1426Met
XM_017018201.2:c.4281T>G XP_016873690.1:p.Ile1427Met
XM_017018202.1:c.2778T>G XP_016873691.1:p.Ile926Met
XM_017018204.1:c.2169T>G XP_016873693.1:p.Ile723Met
XM_024448668.1:c.2580T>G XP_024304436.1:p.Ile860Met
XR_001747945.2:n.4353T>G
XR_001747946.2:n.4284T>G
XR_002957189.1:n.6067T>G
NM_000352.6:c.4212T>G MANE Select NP_000343.2:p.Ile1404Met
NM_001287174.2:c.4215T>G NP_001274103.1:p.Ile1405Met
NM_001351295.2:c.4278T>G NP_001338224.1:p.Ile1426Met
NM_001351296.2:c.4212T>G NP_001338225.1:p.Ile1404Met
NM_001351297.2:c.4209T>G NP_001338226.1:p.Ile1403Met
NR_147094.2:n.4507T>G
NM_001287174.3:c.4215T>G NP_001274103.1:p.Ile1405Met