Canonical Allele Identifier: CA379801692
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406689T>C , CM000673.2:g.17406689T>C GRCh38
NC_000011.9:g.17428236T>C , CM000673.1:g.17428236T>C GRCh37
NC_000011.8:g.17384812T>C NCBI36
NG_008867.1:g.75214A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2831A>G
ENST00000529967.6:n.1601A>G
ENST00000532220.2:n.994A>G
ENST00000642611.2:n.3331A>G
ENST00000645004.2:n.761A>G
ENST00000682051.1:n.3278A>G
ENST00000682110.1:n.3331A>G
ENST00000682140.1:c.3259A>G ENSP00000507829.1:p.Thr1087Ala
ENST00000682185.1:n.4567A>G
ENST00000682204.1:c.*1400A>G ENSP00000507094.1:n.*1400A>G
ENST00000682215.1:n.3328A>G
ENST00000682288.1:c.*1693A>G ENSP00000507506.1:n.*1693A>G
ENST00000682442.1:n.3551A>G
ENST00000682528.1:n.3408A>G
ENST00000682673.1:n.3275A>G
ENST00000682805.1:n.3328A>G
ENST00000682965.1:c.3259A>G ENSP00000508229.1:p.Thr1087Ala
ENST00000683093.1:n.3430A>G
ENST00000683136.1:c.3259A>G ENSP00000507768.1:p.Thr1087Ala
ENST00000683153.1:n.3487A>G
ENST00000683365.1:n.3433A>G
ENST00000683377.1:n.3331A>G
ENST00000683456.1:c.*399A>G ENSP00000508318.1:n.*399A>G
ENST00000683522.1:n.3331A>G
ENST00000683562.1:c.*1431A>G ENSP00000508265.1:n.*1431A>G
ENST00000683693.1:n.3408A>G
ENST00000683725.1:c.3262A>G ENSP00000507496.1:p.Thr1088Ala
ENST00000684010.1:n.3326A>G
ENST00000684157.1:n.3331A>G
ENST00000684253.1:n.3234A>G
ENST00000684288.1:c.*1434A>G ENSP00000507143.1:n.*1434A>G
ENST00000684313.1:n.2763A>G
ENST00000684332.1:n.3404A>G
ENST00000684371.1:n.3437A>G
ENST00000684404.1:n.3374A>G
ENST00000684442.1:n.3331A>G
ENST00000684555.1:c.*1474A>G ENSP00000507705.1:n.*1474A>G
ENST00000684571.1:c.3103A>G ENSP00000506935.1:p.Thr1035Ala
ENST00000684593.1:c.*2967A>G ENSP00000507005.1:n.*2967A>G
ENST00000684711.1:c.*1658A>G ENSP00000506841.1:n.*1658A>G
ENST00000302539.9:c.3265A>G ENSP00000303960.4:p.Thr1089Ala
ENST00000389817.8:c.3262A>G MANE Select ENSP00000374467.4:p.Thr1088Ala
ENST00000642271.1:c.3259A>G ENSP00000493749.1:p.Thr1087Ala
ENST00000642579.1:c.1346A>G
ENST00000642611.1:n.3216A>G
ENST00000642902.1:c.3044A>G
ENST00000643260.1:c.3262A>G ENSP00000494450.1:p.Thr1088Ala
ENST00000643562.1:c.*1238A>G ENSP00000496124.1:n.*1238A>G
ENST00000643925.1:c.1386A>G
ENST00000644447.1:c.1618A>G ENSP00000496282.1:p.Thr540Ala
ENST00000644484.1:c.*1517A>G ENSP00000493558.1:n.*1517A>G
ENST00000644542.1:c.*3066A>G ENSP00000495532.1:n.*3066A>G
ENST00000644675.1:c.*1434A>G ENSP00000494567.1:n.*1434A>G
ENST00000644757.1:c.*1547A>G ENSP00000495085.1:n.*1547A>G
ENST00000644772.1:c.3328A>G ENSP00000494321.1:p.Thr1110Ala
ENST00000645004.1:n.401A>G
ENST00000645076.1:c.2461A>G
ENST00000645417.1:c.428A>G
ENST00000645744.1:c.*1526A>G ENSP00000494564.1:n.*1526A>G
ENST00000645760.1:c.3537A>G
ENST00000645884.1:c.*399A>G ENSP00000495516.1:n.*399A>G
ENST00000646003.1:c.*1218A>G ENSP00000495259.1:n.*1218A>G
ENST00000646207.1:c.*1729A>G ENSP00000495025.1:n.*1729A>G
ENST00000646276.1:c.*1535A>G ENSP00000496070.1:n.*1535A>G
ENST00000646592.1:c.2568A>G
ENST00000646902.1:c.3259A>G ENSP00000494101.1:p.Thr1087Ala
ENST00000646993.1:c.*1658A>G ENSP00000493720.1:n.*1658A>G
ENST00000647013.1:c.3268A>G ENSP00000496741.1:n.3268A>G
ENST00000647015.1:c.3013A>G ENSP00000495389.1:p.Thr1005Ala
ENST00000647086.1:c.*2992A>G ENSP00000493677.1:n.*2992A>G
ENST00000647158.1:c.*1403A>G ENSP00000495744.1:n.*1403A>G
ENST00000302539.8:c.3265A>G ENSP00000303960.4:p.Thr1089Ala
ENST00000389817.7:c.3262A>G ENSP00000374467.3:p.Thr1088Ala
ENST00000524561.1:n.394A>G
ENST00000526921.5:n.946A>G
ENST00000527905.5:c.*138A>G ENSP00000431653.1:n.*138A>G
NM_000352.4:c.3262A>G NP_000343.2:p.Thr1088Ala
NM_001287174.1:c.3265A>G NP_001274103.1:p.Thr1089Ala
XM_011520331.1:c.3262A>G XP_011518633.1:p.Thr1088Ala
XM_011520332.1:c.3265A>G XP_011518634.1:p.Thr1089Ala
XM_011520333.1:c.1762A>G XP_011518635.1:p.Thr588Ala
XR_930890.1:n.3328A>G
XR_930891.1:n.3328A>G
XR_930892.1:n.3228A>G
XR_930893.1:n.3225A>G
NM_001351295.1:c.3328A>G NP_001338224.1:p.Thr1110Ala
NM_001351296.1:c.3262A>G NP_001338225.1:p.Thr1088Ala
NM_001351297.1:c.3259A>G NP_001338226.1:p.Thr1087Ala
NR_147094.1:n.3411A>G
XM_017018197.2:c.3331A>G XP_016873686.1:p.Thr1111Ala
XM_017018199.1:c.3328A>G XP_016873688.1:p.Thr1110Ala
XM_017018201.2:c.3331A>G XP_016873690.1:p.Thr1111Ala
XM_017018202.1:c.1828A>G XP_016873691.1:p.Thr610Ala
XM_017018204.1:c.1219A>G XP_016873693.1:p.Thr407Ala
XM_024448668.1:c.1630A>G XP_024304436.1:p.Thr544Ala
XR_001747945.2:n.3403A>G
XR_001747946.2:n.3334A>G
XR_002957189.1:n.3483A>G
NM_000352.6:c.3262A>G MANE Select NP_000343.2:p.Thr1088Ala
NM_001287174.2:c.3265A>G NP_001274103.1:p.Thr1089Ala
NM_001351295.2:c.3328A>G NP_001338224.1:p.Thr1110Ala
NM_001351296.2:c.3262A>G NP_001338225.1:p.Thr1088Ala
NM_001351297.2:c.3259A>G NP_001338226.1:p.Thr1087Ala
NR_147094.2:n.3411A>G
NM_001287174.3:c.3265A>G NP_001274103.1:p.Thr1089Ala