Canonical Allele Identifier: CA379787316
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395706A>C , CM000673.2:g.17395706A>C GRCh38
NC_000011.9:g.17417253A>C , CM000673.1:g.17417253A>C GRCh37
NC_000011.8:g.17373829A>C NCBI36
NG_008867.1:g.86197T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3812T>G
ENST00000528374.2:c.802T>G
ENST00000529967.6:n.2550T>G
ENST00000532220.2:n.3444T>G
ENST00000642611.2:n.5544T>G
ENST00000644057.2:n.787T>G
ENST00000645004.2:n.1710T>G
ENST00000682051.1:n.4373T>G
ENST00000682110.1:n.4426T>G
ENST00000682140.1:c.4077T>G ENSP00000507829.1:p.His1359Gln
ENST00000682185.1:n.5516T>G
ENST00000682204.1:c.*2349T>G ENSP00000507094.1:n.*2349T>G
ENST00000682215.1:n.4793T>G
ENST00000682288.1:c.*2642T>G ENSP00000507506.1:n.*2642T>G
ENST00000682442.1:n.4646T>G
ENST00000682528.1:n.4503T>G
ENST00000682673.1:n.4370T>G
ENST00000682805.1:n.4831T>G
ENST00000682965.1:c.*633T>G ENSP00000508229.1:n.*633T>G
ENST00000683093.1:n.5510T>G
ENST00000683136.1:c.4094T>G ENSP00000507768.1:p.Ile1365Ser
ENST00000683153.1:n.4468T>G
ENST00000683365.1:n.4528T>G
ENST00000683377.1:n.4426T>G
ENST00000683456.1:c.*1348T>G ENSP00000508318.1:n.*1348T>G
ENST00000683522.1:n.4426T>G
ENST00000683562.1:c.*2380T>G ENSP00000508265.1:n.*2380T>G
ENST00000683693.1:n.5991T>G
ENST00000683725.1:c.4211T>G ENSP00000507496.1:p.Ile1404Ser
ENST00000684010.1:n.4421T>G
ENST00000684157.1:n.5411T>G
ENST00000684253.1:n.4329T>G
ENST00000684288.1:c.*2383T>G ENSP00000507143.1:n.*2383T>G
ENST00000684313.1:n.3858T>G
ENST00000684332.1:n.4499T>G
ENST00000684371.1:n.4532T>G
ENST00000684404.1:n.5454T>G
ENST00000684442.1:n.4650T>G
ENST00000684555.1:c.*2423T>G ENSP00000507705.1:n.*2423T>G
ENST00000684571.1:c.4052T>G ENSP00000506935.1:p.Ile1351Ser
ENST00000684593.1:c.*3916T>G ENSP00000507005.1:n.*3916T>G
ENST00000684711.1:c.*2607T>G ENSP00000506841.1:n.*2607T>G
ENST00000302539.9:c.4214T>G ENSP00000303960.4:p.Ile1405Ser
ENST00000389817.8:c.4211T>G MANE Select ENSP00000374467.4:p.Ile1404Ser
ENST00000642271.1:c.4208T>G ENSP00000493749.1:p.Ile1403Ser
ENST00000642579.1:c.2265T>G
ENST00000642611.1:n.5429T>G
ENST00000642902.1:c.3993T>G
ENST00000643260.1:c.4211T>G ENSP00000494450.1:p.Ile1404Ser
ENST00000643562.1:c.*2333T>G ENSP00000496124.1:n.*2333T>G
ENST00000643925.1:c.2851T>G
ENST00000644057.1:n.288T>G
ENST00000644484.1:c.*3597T>G ENSP00000493558.1:n.*3597T>G
ENST00000644675.1:c.*2383T>G ENSP00000494567.1:n.*2383T>G
ENST00000644757.1:c.*3202+558T>G ENSP00000495085.1:n.*3202+558T>G
ENST00000644772.1:c.4277T>G ENSP00000494321.1:p.Ile1426Ser
ENST00000645004.1:n.1904T>G
ENST00000645076.1:c.3410T>G
ENST00000645417.1:c.1399T>G
ENST00000645744.1:c.*3964-68T>G ENSP00000494564.1:n.*3964-68T>G
ENST00000645760.1:c.4632T>G
ENST00000645884.1:c.*1494T>G ENSP00000495516.1:n.*1494T>G
ENST00000646003.1:c.*2301-68T>G ENSP00000495259.1:n.*2301-68T>G
ENST00000646207.1:c.*3048T>G ENSP00000495025.1:n.*3048T>G
ENST00000646276.1:c.*3615T>G ENSP00000496070.1:n.*3615T>G
ENST00000646592.1:c.3517T>G
ENST00000646902.1:c.4178T>G ENSP00000494101.1:p.Ile1393Ser
ENST00000646993.1:c.*2753T>G ENSP00000493720.1:n.*2753T>G
ENST00000647013.1:c.4217T>G ENSP00000496741.1:n.4217T>G
ENST00000647015.1:c.3962T>G ENSP00000495389.1:p.Ile1321Ser
ENST00000647086.1:c.*3797T>G ENSP00000493677.1:n.*3797T>G
ENST00000647158.1:c.*2498T>G ENSP00000495744.1:n.*2498T>G
ENST00000302539.8:c.4214T>G ENSP00000303960.4:p.Ile1405Ser
ENST00000389817.7:c.4211T>G ENSP00000374467.3:p.Ile1404Ser
ENST00000525022.1:n.210T>G
ENST00000526037.5:n.75T>G
ENST00000526168.5:c.67-68T>G
ENST00000531642.5:c.47T>G
NM_000352.4:c.4211T>G NP_000343.2:p.Ile1404Ser
NM_001287174.1:c.4214T>G NP_001274103.1:p.Ile1405Ser
XM_011520331.1:c.4211T>G XP_011518633.1:p.Ile1404Ser
XM_011520332.1:c.4214T>G XP_011518634.1:p.Ile1405Ser
XM_011520333.1:c.2711T>G XP_011518635.1:p.Ile904Ser
XR_930890.1:n.4277T>G
NM_001351295.1:c.4277T>G NP_001338224.1:p.Ile1426Ser
NM_001351296.1:c.4211T>G NP_001338225.1:p.Ile1404Ser
NM_001351297.1:c.4208T>G NP_001338226.1:p.Ile1403Ser
NR_147094.1:n.4506T>G
XM_017018197.2:c.4280T>G XP_016873686.1:p.Ile1427Ser
XM_017018199.1:c.4277T>G XP_016873688.1:p.Ile1426Ser
XM_017018201.2:c.4280T>G XP_016873690.1:p.Ile1427Ser
XM_017018202.1:c.2777T>G XP_016873691.1:p.Ile926Ser
XM_017018204.1:c.2168T>G XP_016873693.1:p.Ile723Ser
XM_024448668.1:c.2579T>G XP_024304436.1:p.Ile860Ser
XR_001747945.2:n.4352T>G
XR_001747946.2:n.4283T>G
XR_002957189.1:n.6066T>G
NM_000352.6:c.4211T>G MANE Select NP_000343.2:p.Ile1404Ser
NM_001287174.2:c.4214T>G NP_001274103.1:p.Ile1405Ser
NM_001351295.2:c.4277T>G NP_001338224.1:p.Ile1426Ser
NM_001351296.2:c.4211T>G NP_001338225.1:p.Ile1404Ser
NM_001351297.2:c.4208T>G NP_001338226.1:p.Ile1403Ser
NR_147094.2:n.4506T>G
NM_001287174.3:c.4214T>G NP_001274103.1:p.Ile1405Ser