Canonical Allele Identifier: CA218419543
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs949645934

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406638T>C , CM000673.2:g.17406638T>C GRCh38
NC_000011.9:g.17428185T>C , CM000673.1:g.17428185T>C GRCh37
NC_000011.8:g.17384761T>C NCBI36
NG_008867.1:g.75265A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2882A>G
ENST00000529967.6:n.1652A>G
ENST00000532220.2:n.1045A>G
ENST00000642611.2:n.3382A>G
ENST00000645004.2:n.812A>G
ENST00000682051.1:n.3329A>G
ENST00000682110.1:n.3382A>G
ENST00000682140.1:c.3310A>G ENSP00000507829.1:p.Ile1104Val
ENST00000682185.1:n.4618A>G
ENST00000682204.1:c.*1451A>G ENSP00000507094.1:n.*1451A>G
ENST00000682215.1:n.3379A>G
ENST00000682288.1:c.*1744A>G ENSP00000507506.1:n.*1744A>G
ENST00000682442.1:n.3602A>G
ENST00000682528.1:n.3459A>G
ENST00000682673.1:n.3326A>G
ENST00000682805.1:n.3379A>G
ENST00000682965.1:c.3310A>G ENSP00000508229.1:p.Ile1104Val
ENST00000683093.1:n.3481A>G
ENST00000683136.1:c.3310A>G ENSP00000507768.1:p.Ile1104Val
ENST00000683153.1:n.3538A>G
ENST00000683365.1:n.3484A>G
ENST00000683377.1:n.3382A>G
ENST00000683456.1:c.*450A>G ENSP00000508318.1:n.*450A>G
ENST00000683522.1:n.3382A>G
ENST00000683562.1:c.*1482A>G ENSP00000508265.1:n.*1482A>G
ENST00000683693.1:n.3459A>G
ENST00000683725.1:c.3313A>G ENSP00000507496.1:p.Ile1105Val
ENST00000684010.1:n.3377A>G
ENST00000684157.1:n.3382A>G
ENST00000684253.1:n.3285A>G
ENST00000684288.1:c.*1485A>G ENSP00000507143.1:n.*1485A>G
ENST00000684313.1:n.2814A>G
ENST00000684332.1:n.3455A>G
ENST00000684371.1:n.3488A>G
ENST00000684404.1:n.3425A>G
ENST00000684442.1:n.3382A>G
ENST00000684555.1:c.*1525A>G ENSP00000507705.1:n.*1525A>G
ENST00000684571.1:c.3154A>G ENSP00000506935.1:p.Ile1052Val
ENST00000684593.1:c.*3018A>G ENSP00000507005.1:n.*3018A>G
ENST00000684711.1:c.*1709A>G ENSP00000506841.1:n.*1709A>G
ENST00000302539.9:c.3316A>G ENSP00000303960.4:p.Ile1106Val
ENST00000389817.8:c.3313A>G MANE Select ENSP00000374467.4:p.Ile1105Val
ENST00000642271.1:c.3310A>G ENSP00000493749.1:p.Ile1104Val
ENST00000642579.1:c.1397A>G
ENST00000642611.1:n.3267A>G
ENST00000642902.1:c.3095A>G
ENST00000643260.1:c.3313A>G ENSP00000494450.1:p.Ile1105Val
ENST00000643562.1:c.*1289A>G ENSP00000496124.1:n.*1289A>G
ENST00000643925.1:c.1437A>G
ENST00000644447.1:c.1669A>G ENSP00000496282.1:p.Ile557Val
ENST00000644484.1:c.*1568A>G ENSP00000493558.1:n.*1568A>G
ENST00000644542.1:c.*3117A>G ENSP00000495532.1:n.*3117A>G
ENST00000644675.1:c.*1485A>G ENSP00000494567.1:n.*1485A>G
ENST00000644757.1:c.*1598A>G ENSP00000495085.1:n.*1598A>G
ENST00000644772.1:c.3379A>G ENSP00000494321.1:p.Ile1127Val
ENST00000645004.1:n.452A>G
ENST00000645076.1:c.2512A>G
ENST00000645417.1:c.479A>G
ENST00000645744.1:c.*1577A>G ENSP00000494564.1:n.*1577A>G
ENST00000645760.1:c.3588A>G
ENST00000645884.1:c.*450A>G ENSP00000495516.1:n.*450A>G
ENST00000646003.1:c.*1269A>G ENSP00000495259.1:n.*1269A>G
ENST00000646207.1:c.*1780A>G ENSP00000495025.1:n.*1780A>G
ENST00000646276.1:c.*1586A>G ENSP00000496070.1:n.*1586A>G
ENST00000646592.1:c.2619A>G
ENST00000646902.1:c.3310A>G ENSP00000494101.1:p.Ile1104Val
ENST00000646993.1:c.*1709A>G ENSP00000493720.1:n.*1709A>G
ENST00000647013.1:c.3319A>G ENSP00000496741.1:n.3319A>G
ENST00000647015.1:c.3064A>G ENSP00000495389.1:p.Ile1022Val
ENST00000647086.1:c.*3043A>G ENSP00000493677.1:n.*3043A>G
ENST00000647158.1:c.*1454A>G ENSP00000495744.1:n.*1454A>G
ENST00000302539.8:c.3316A>G ENSP00000303960.4:p.Ile1106Val
ENST00000389817.7:c.3313A>G ENSP00000374467.3:p.Ile1105Val
ENST00000524561.1:n.445A>G
ENST00000527905.5:c.*189A>G ENSP00000431653.1:n.*189A>G
NM_000352.4:c.3313A>G NP_000343.2:p.Ile1105Val
NM_001287174.1:c.3316A>G NP_001274103.1:p.Ile1106Val
XM_011520331.1:c.3313A>G XP_011518633.1:p.Ile1105Val
XM_011520332.1:c.3316A>G XP_011518634.1:p.Ile1106Val
XM_011520333.1:c.1813A>G XP_011518635.1:p.Ile605Val
XR_930890.1:n.3379A>G
XR_930891.1:n.3379A>G
XR_930892.1:n.3279A>G
XR_930893.1:n.3276A>G
NM_001351295.1:c.3379A>G NP_001338224.1:p.Ile1127Val
NM_001351296.1:c.3313A>G NP_001338225.1:p.Ile1105Val
NM_001351297.1:c.3310A>G NP_001338226.1:p.Ile1104Val
NR_147094.1:n.3462A>G
XM_017018197.2:c.3382A>G XP_016873686.1:p.Ile1128Val
XM_017018199.1:c.3379A>G XP_016873688.1:p.Ile1127Val
XM_017018201.2:c.3382A>G XP_016873690.1:p.Ile1128Val
XM_017018202.1:c.1879A>G XP_016873691.1:p.Ile627Val
XM_017018204.1:c.1270A>G XP_016873693.1:p.Ile424Val
XM_024448668.1:c.1681A>G XP_024304436.1:p.Ile561Val
XR_001747945.2:n.3454A>G
XR_001747946.2:n.3385A>G
XR_002957189.1:n.3534A>G
NM_000352.6:c.3313A>G MANE Select NP_000343.2:p.Ile1105Val
NM_001287174.2:c.3316A>G NP_001274103.1:p.Ile1106Val
NM_001351295.2:c.3379A>G NP_001338224.1:p.Ile1127Val
NM_001351296.2:c.3313A>G NP_001338225.1:p.Ile1105Val
NM_001351297.2:c.3310A>G NP_001338226.1:p.Ile1104Val
NR_147094.2:n.3462A>G
NM_001287174.3:c.3316A>G NP_001274103.1:p.Ile1106Val