Canonical Allele Identifier: CA379803115
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406899A>C , CM000673.2:g.17406899A>C GRCh38
NC_000011.9:g.17428446A>C , CM000673.1:g.17428446A>C GRCh37
NC_000011.8:g.17385022A>C NCBI36
NG_008867.1:g.75004T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2720T>G
ENST00000529967.6:n.1490T>G
ENST00000532220.2:n.883T>G
ENST00000642611.2:n.3220T>G
ENST00000645004.2:n.650T>G
ENST00000682051.1:n.3167T>G
ENST00000682110.1:n.3220T>G
ENST00000682140.1:c.3148T>G ENSP00000507829.1:p.Ser1050Ala
ENST00000682185.1:n.4456T>G
ENST00000682204.1:c.*1289T>G ENSP00000507094.1:n.*1289T>G
ENST00000682215.1:n.3217T>G
ENST00000682288.1:c.*1582T>G ENSP00000507506.1:n.*1582T>G
ENST00000682442.1:n.3341T>G
ENST00000682528.1:n.3297T>G
ENST00000682673.1:n.3164T>G
ENST00000682805.1:n.3217T>G
ENST00000682965.1:c.3148T>G ENSP00000508229.1:p.Ser1050Ala
ENST00000683093.1:n.3319T>G
ENST00000683136.1:c.3148T>G ENSP00000507768.1:p.Ser1050Ala
ENST00000683153.1:n.3376T>G
ENST00000683365.1:n.3322T>G
ENST00000683377.1:n.3220T>G
ENST00000683456.1:c.*288T>G ENSP00000508318.1:n.*288T>G
ENST00000683522.1:n.3220T>G
ENST00000683562.1:c.*1320T>G ENSP00000508265.1:n.*1320T>G
ENST00000683693.1:n.3297T>G
ENST00000683725.1:c.3151T>G ENSP00000507496.1:p.Ser1051Ala
ENST00000684010.1:n.3215T>G
ENST00000684157.1:n.3220T>G
ENST00000684253.1:n.3123T>G
ENST00000684288.1:c.*1323T>G ENSP00000507143.1:n.*1323T>G
ENST00000684313.1:n.2652T>G
ENST00000684332.1:n.3293T>G
ENST00000684371.1:n.3326T>G
ENST00000684404.1:n.3263T>G
ENST00000684442.1:n.3220T>G
ENST00000684555.1:c.*1363T>G ENSP00000507705.1:n.*1363T>G
ENST00000684571.1:c.2992T>G ENSP00000506935.1:p.Ser998Ala
ENST00000684593.1:c.*2856T>G ENSP00000507005.1:n.*2856T>G
ENST00000684711.1:c.*1547T>G ENSP00000506841.1:n.*1547T>G
ENST00000302539.9:c.3154T>G ENSP00000303960.4:p.Ser1052Ala
ENST00000389817.8:c.3151T>G MANE Select ENSP00000374467.4:p.Ser1051Ala
ENST00000642271.1:c.3148T>G ENSP00000493749.1:p.Ser1050Ala
ENST00000642579.1:c.1235T>G
ENST00000642611.1:n.3105T>G
ENST00000642902.1:c.2933T>G
ENST00000643260.1:c.3151T>G ENSP00000494450.1:p.Ser1051Ala
ENST00000643562.1:c.*1127T>G ENSP00000496124.1:n.*1127T>G
ENST00000643925.1:c.1275T>G
ENST00000644447.1:c.1507T>G ENSP00000496282.1:p.Ser503Ala
ENST00000644484.1:c.*1406T>G ENSP00000493558.1:n.*1406T>G
ENST00000644542.1:c.*2856T>G ENSP00000495532.1:n.*2856T>G
ENST00000644675.1:c.*1323T>G ENSP00000494567.1:n.*1323T>G
ENST00000644757.1:c.*1436T>G ENSP00000495085.1:n.*1436T>G
ENST00000644772.1:c.3217T>G ENSP00000494321.1:p.Ser1073Ala
ENST00000645004.1:n.290T>G
ENST00000645076.1:c.2350T>G
ENST00000645417.1:c.317T>G
ENST00000645744.1:c.*1415T>G ENSP00000494564.1:n.*1415T>G
ENST00000645760.1:c.3426T>G
ENST00000645884.1:c.*288T>G ENSP00000495516.1:n.*288T>G
ENST00000646003.1:c.*1107T>G ENSP00000495259.1:n.*1107T>G
ENST00000646207.1:c.*1618T>G ENSP00000495025.1:n.*1618T>G
ENST00000646276.1:c.*1424T>G ENSP00000496070.1:n.*1424T>G
ENST00000646592.1:c.2457T>G
ENST00000646902.1:c.3148T>G ENSP00000494101.1:p.Ser1050Ala
ENST00000646993.1:c.*1547T>G ENSP00000493720.1:n.*1547T>G
ENST00000647013.1:c.3157T>G ENSP00000496741.1:n.3157T>G
ENST00000647015.1:c.2902T>G ENSP00000495389.1:p.Ser968Ala
ENST00000647086.1:c.*2881T>G ENSP00000493677.1:n.*2881T>G
ENST00000647158.1:c.*1292T>G ENSP00000495744.1:n.*1292T>G
ENST00000302539.8:c.3154T>G ENSP00000303960.4:p.Ser1052Ala
ENST00000389817.7:c.3151T>G ENSP00000374467.3:p.Ser1051Ala
ENST00000524561.1:n.283T>G
ENST00000526921.5:n.835T>G
ENST00000527905.5:c.*27T>G ENSP00000431653.1:n.*27T>G
ENST00000529967.5:n.820T>G
NM_000352.4:c.3151T>G NP_000343.2:p.Ser1051Ala
NM_001287174.1:c.3154T>G NP_001274103.1:p.Ser1052Ala
XM_011520331.1:c.3151T>G XP_011518633.1:p.Ser1051Ala
XM_011520332.1:c.3154T>G XP_011518634.1:p.Ser1052Ala
XM_011520333.1:c.1651T>G XP_011518635.1:p.Ser551Ala
XR_930890.1:n.3217T>G
XR_930891.1:n.3217T>G
XR_930892.1:n.3117T>G
XR_930893.1:n.3114T>G
NM_001351295.1:c.3217T>G NP_001338224.1:p.Ser1073Ala
NM_001351296.1:c.3151T>G NP_001338225.1:p.Ser1051Ala
NM_001351297.1:c.3148T>G NP_001338226.1:p.Ser1050Ala
NR_147094.1:n.3300T>G
XM_017018197.2:c.3220T>G XP_016873686.1:p.Ser1074Ala
XM_017018199.1:c.3217T>G XP_016873688.1:p.Ser1073Ala
XM_017018201.2:c.3220T>G XP_016873690.1:p.Ser1074Ala
XM_017018202.1:c.1717T>G XP_016873691.1:p.Ser573Ala
XM_017018204.1:c.1108T>G XP_016873693.1:p.Ser370Ala
XM_024448668.1:c.1519T>G XP_024304436.1:p.Ser507Ala
XR_001747945.2:n.3292T>G
XR_001747946.2:n.3223T>G
XR_002957189.1:n.3372T>G
NM_000352.6:c.3151T>G MANE Select NP_000343.2:p.Ser1051Ala
NM_001287174.2:c.3154T>G NP_001274103.1:p.Ser1052Ala
NM_001351295.2:c.3217T>G NP_001338224.1:p.Ser1073Ala
NM_001351296.2:c.3151T>G NP_001338225.1:p.Ser1051Ala
NM_001351297.2:c.3148T>G NP_001338226.1:p.Ser1050Ala
NR_147094.2:n.3300T>G
NM_001287174.3:c.3154T>G NP_001274103.1:p.Ser1052Ala