Canonical Allele Identifier: CA379791295
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397041A>C , CM000673.2:g.17397041A>C GRCh38
NC_000011.9:g.17418588A>C , CM000673.1:g.17418588A>C GRCh37
NC_000011.8:g.17375164A>C NCBI36
NG_008867.1:g.84862T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3595T>G
ENST00000528374.2:c.585T>G
ENST00000529967.6:n.2333T>G
ENST00000532220.2:n.2242T>G
ENST00000642611.2:n.4209T>G
ENST00000644057.2:n.437T>G
ENST00000645004.2:n.1493T>G
ENST00000682051.1:n.4156T>G
ENST00000682110.1:n.4209T>G
ENST00000682140.1:c.3985+152T>G ENSP00000507829.1:n.3985+152T>G
ENST00000682185.1:n.5299T>G
ENST00000682204.1:c.*2132T>G ENSP00000507094.1:n.*2132T>G
ENST00000682215.1:n.4576T>G
ENST00000682288.1:c.*2425T>G ENSP00000507506.1:n.*2425T>G
ENST00000682442.1:n.4429T>G
ENST00000682528.1:n.4286T>G
ENST00000682673.1:n.4153T>G
ENST00000682805.1:n.4576T>G
ENST00000682965.1:c.*416T>G ENSP00000508229.1:n.*416T>G
ENST00000683093.1:n.4308T>G
ENST00000683136.1:c.3877T>G ENSP00000507768.1:p.Ser1293Ala
ENST00000683153.1:n.4251T>G
ENST00000683365.1:n.4311T>G
ENST00000683377.1:n.4209T>G
ENST00000683456.1:c.*1131T>G ENSP00000508318.1:n.*1131T>G
ENST00000683522.1:n.4209T>G
ENST00000683562.1:c.*2163T>G ENSP00000508265.1:n.*2163T>G
ENST00000683693.1:n.4656T>G
ENST00000683725.1:c.3994T>G ENSP00000507496.1:p.Ser1332Ala
ENST00000684010.1:n.4204T>G
ENST00000684157.1:n.4209T>G
ENST00000684253.1:n.4112T>G
ENST00000684288.1:c.*2166T>G ENSP00000507143.1:n.*2166T>G
ENST00000684313.1:n.3641T>G
ENST00000684332.1:n.4282T>G
ENST00000684371.1:n.4315T>G
ENST00000684404.1:n.4252T>G
ENST00000684442.1:n.4433T>G
ENST00000684555.1:c.*2206T>G ENSP00000507705.1:n.*2206T>G
ENST00000684571.1:c.3835T>G ENSP00000506935.1:p.Ser1279Ala
ENST00000684593.1:c.*3699T>G ENSP00000507005.1:n.*3699T>G
ENST00000684711.1:c.*2390T>G ENSP00000506841.1:n.*2390T>G
ENST00000302539.9:c.3997T>G ENSP00000303960.4:p.Ser1333Ala
ENST00000389817.8:c.3994T>G MANE Select ENSP00000374467.4:p.Ser1332Ala
ENST00000642271.1:c.3991T>G ENSP00000493749.1:p.Ser1331Ala
ENST00000642579.1:c.2073-25T>G
ENST00000642611.1:n.4094T>G
ENST00000642902.1:c.3776T>G
ENST00000643260.1:c.3994T>G ENSP00000494450.1:p.Ser1332Ala
ENST00000643562.1:c.*2116T>G ENSP00000496124.1:n.*2116T>G
ENST00000643925.1:c.2634T>G
ENST00000644057.1:n.71T>G
ENST00000644484.1:c.*2395T>G ENSP00000493558.1:n.*2395T>G
ENST00000644675.1:c.*2166T>G ENSP00000494567.1:n.*2166T>G
ENST00000644757.1:c.*2425T>G ENSP00000495085.1:n.*2425T>G
ENST00000644772.1:c.4060T>G ENSP00000494321.1:p.Ser1354Ala
ENST00000645004.1:n.1649T>G
ENST00000645076.1:c.3193T>G
ENST00000645417.1:c.1182T>G
ENST00000645744.1:c.*2774T>G ENSP00000494564.1:n.*2774T>G
ENST00000645760.1:c.4415T>G
ENST00000645884.1:c.*1277T>G ENSP00000495516.1:n.*1277T>G
ENST00000646003.1:c.*2096T>G ENSP00000495259.1:n.*2096T>G
ENST00000646207.1:c.*2831T>G ENSP00000495025.1:n.*2831T>G
ENST00000646276.1:c.*2413T>G ENSP00000496070.1:n.*2413T>G
ENST00000646592.1:c.3300T>G
ENST00000646902.1:c.3986-25T>G ENSP00000494101.1:n.3986-25T>G
ENST00000646993.1:c.*2536T>G ENSP00000493720.1:n.*2536T>G
ENST00000647013.1:c.4000T>G ENSP00000496741.1:n.4000T>G
ENST00000647015.1:c.3745T>G ENSP00000495389.1:p.Ser1249Ala
ENST00000647086.1:c.*3605-25T>G ENSP00000493677.1:n.*3605-25T>G
ENST00000647158.1:c.*2281T>G ENSP00000495744.1:n.*2281T>G
ENST00000302539.8:c.3997T>G ENSP00000303960.4:p.Ser1333Ala
ENST00000389817.7:c.3994T>G ENSP00000374467.3:p.Ser1332Ala
ENST00000527905.5:c.*1016T>G ENSP00000431653.1:n.*1016T>G
ENST00000528374.1:c.476T>G
ENST00000531137.1:n.559T>G
ENST00000531891.1:c.357-25T>G
ENST00000532220.1:n.468T>G
NM_000352.4:c.3994T>G NP_000343.2:p.Ser1332Ala
NM_001287174.1:c.3997T>G NP_001274103.1:p.Ser1333Ala
XM_011520331.1:c.3994T>G XP_011518633.1:p.Ser1332Ala
XM_011520332.1:c.3997T>G XP_011518634.1:p.Ser1333Ala
XM_011520333.1:c.2494T>G XP_011518635.1:p.Ser832Ala
XR_930890.1:n.4060T>G
NM_001351295.1:c.4060T>G NP_001338224.1:p.Ser1354Ala
NM_001351296.1:c.3994T>G NP_001338225.1:p.Ser1332Ala
NM_001351297.1:c.3991T>G NP_001338226.1:p.Ser1331Ala
NR_147094.1:n.4289T>G
XM_017018197.2:c.4063T>G XP_016873686.1:p.Ser1355Ala
XM_017018199.1:c.4060T>G XP_016873688.1:p.Ser1354Ala
XM_017018201.2:c.4063T>G XP_016873690.1:p.Ser1355Ala
XM_017018202.1:c.2560T>G XP_016873691.1:p.Ser854Ala
XM_017018204.1:c.1951T>G XP_016873693.1:p.Ser651Ala
XM_024448668.1:c.2362T>G XP_024304436.1:p.Ser788Ala
XR_001747945.2:n.4135T>G
XR_001747946.2:n.4066T>G
XR_002957189.1:n.4731T>G
NM_000352.6:c.3994T>G MANE Select NP_000343.2:p.Ser1332Ala
NM_001287174.2:c.3997T>G NP_001274103.1:p.Ser1333Ala
NM_001351295.2:c.4060T>G NP_001338224.1:p.Ser1354Ala
NM_001351296.2:c.3994T>G NP_001338225.1:p.Ser1332Ala
NM_001351297.2:c.3991T>G NP_001338226.1:p.Ser1331Ala
NR_147094.2:n.4289T>G
NM_001287174.3:c.3997T>G NP_001274103.1:p.Ser1333Ala