Canonical Allele Identifier: CA379803202
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1324814284

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406920T>C , CM000673.2:g.17406920T>C GRCh38
NC_000011.9:g.17428467T>C , CM000673.1:g.17428467T>C GRCh37
NC_000011.8:g.17385043T>C NCBI36
NG_008867.1:g.74983A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2699A>G
ENST00000529967.6:n.1469A>G
ENST00000532220.2:n.862A>G
ENST00000642611.2:n.3199A>G
ENST00000645004.2:n.629A>G
ENST00000682051.1:n.3146A>G
ENST00000682110.1:n.3199A>G
ENST00000682140.1:c.3127A>G ENSP00000507829.1:p.Thr1043Ala
ENST00000682185.1:n.4435A>G
ENST00000682204.1:c.*1268A>G ENSP00000507094.1:n.*1268A>G
ENST00000682215.1:n.3196A>G
ENST00000682288.1:c.*1561A>G ENSP00000507506.1:n.*1561A>G
ENST00000682442.1:n.3320A>G
ENST00000682528.1:n.3276A>G
ENST00000682673.1:n.3143A>G
ENST00000682805.1:n.3196A>G
ENST00000682965.1:c.3127A>G ENSP00000508229.1:p.Thr1043Ala
ENST00000683093.1:n.3298A>G
ENST00000683136.1:c.3127A>G ENSP00000507768.1:p.Thr1043Ala
ENST00000683153.1:n.3355A>G
ENST00000683365.1:n.3301A>G
ENST00000683377.1:n.3199A>G
ENST00000683456.1:c.*267A>G ENSP00000508318.1:n.*267A>G
ENST00000683522.1:n.3199A>G
ENST00000683562.1:c.*1299A>G ENSP00000508265.1:n.*1299A>G
ENST00000683693.1:n.3276A>G
ENST00000683725.1:c.3130A>G ENSP00000507496.1:p.Thr1044Ala
ENST00000684010.1:n.3194A>G
ENST00000684157.1:n.3199A>G
ENST00000684253.1:n.3102A>G
ENST00000684288.1:c.*1302A>G ENSP00000507143.1:n.*1302A>G
ENST00000684313.1:n.2631A>G
ENST00000684332.1:n.3272A>G
ENST00000684371.1:n.3305A>G
ENST00000684404.1:n.3242A>G
ENST00000684442.1:n.3199A>G
ENST00000684555.1:c.*1342A>G ENSP00000507705.1:n.*1342A>G
ENST00000684571.1:c.2971A>G ENSP00000506935.1:p.Thr991Ala
ENST00000684593.1:c.*2835A>G ENSP00000507005.1:n.*2835A>G
ENST00000684711.1:c.*1526A>G ENSP00000506841.1:n.*1526A>G
ENST00000302539.9:c.3133A>G ENSP00000303960.4:p.Thr1045Ala
ENST00000389817.8:c.3130A>G MANE Select ENSP00000374467.4:p.Thr1044Ala
ENST00000642271.1:c.3127A>G ENSP00000493749.1:p.Thr1043Ala
ENST00000642579.1:c.1214A>G
ENST00000642611.1:n.3084A>G
ENST00000642902.1:c.2912A>G
ENST00000643260.1:c.3130A>G ENSP00000494450.1:p.Thr1044Ala
ENST00000643562.1:c.*1106A>G ENSP00000496124.1:n.*1106A>G
ENST00000643925.1:c.1254A>G
ENST00000644447.1:c.1486A>G ENSP00000496282.1:p.Thr496Ala
ENST00000644484.1:c.*1385A>G ENSP00000493558.1:n.*1385A>G
ENST00000644542.1:c.*2835A>G ENSP00000495532.1:n.*2835A>G
ENST00000644675.1:c.*1302A>G ENSP00000494567.1:n.*1302A>G
ENST00000644757.1:c.*1415A>G ENSP00000495085.1:n.*1415A>G
ENST00000644772.1:c.3196A>G ENSP00000494321.1:p.Thr1066Ala
ENST00000645004.1:n.269A>G
ENST00000645076.1:c.2329A>G
ENST00000645417.1:c.296A>G
ENST00000645744.1:c.*1394A>G ENSP00000494564.1:n.*1394A>G
ENST00000645760.1:c.3405A>G
ENST00000645884.1:c.*267A>G ENSP00000495516.1:n.*267A>G
ENST00000646003.1:c.*1086A>G ENSP00000495259.1:n.*1086A>G
ENST00000646207.1:c.*1597A>G ENSP00000495025.1:n.*1597A>G
ENST00000646276.1:c.*1403A>G ENSP00000496070.1:n.*1403A>G
ENST00000646592.1:c.2436A>G
ENST00000646902.1:c.3127A>G ENSP00000494101.1:p.Thr1043Ala
ENST00000646993.1:c.*1526A>G ENSP00000493720.1:n.*1526A>G
ENST00000647013.1:c.3136A>G ENSP00000496741.1:n.3136A>G
ENST00000647015.1:c.2881A>G ENSP00000495389.1:p.Thr961Ala
ENST00000647086.1:c.*2860A>G ENSP00000493677.1:n.*2860A>G
ENST00000647158.1:c.*1271A>G ENSP00000495744.1:n.*1271A>G
ENST00000302539.8:c.3133A>G ENSP00000303960.4:p.Thr1045Ala
ENST00000389817.7:c.3130A>G ENSP00000374467.3:p.Thr1044Ala
ENST00000524561.1:n.262A>G
ENST00000526921.5:n.814A>G
ENST00000527905.5:c.*6A>G ENSP00000431653.1:n.*6A>G
ENST00000529967.5:n.799A>G
NM_000352.4:c.3130A>G NP_000343.2:p.Thr1044Ala
NM_001287174.1:c.3133A>G NP_001274103.1:p.Thr1045Ala
XM_011520331.1:c.3130A>G XP_011518633.1:p.Thr1044Ala
XM_011520332.1:c.3133A>G XP_011518634.1:p.Thr1045Ala
XM_011520333.1:c.1630A>G XP_011518635.1:p.Thr544Ala
XR_930890.1:n.3196A>G
XR_930891.1:n.3196A>G
XR_930892.1:n.3096A>G
XR_930893.1:n.3093A>G
NM_001351295.1:c.3196A>G NP_001338224.1:p.Thr1066Ala
NM_001351296.1:c.3130A>G NP_001338225.1:p.Thr1044Ala
NM_001351297.1:c.3127A>G NP_001338226.1:p.Thr1043Ala
NR_147094.1:n.3279A>G
XM_017018197.2:c.3199A>G XP_016873686.1:p.Thr1067Ala
XM_017018199.1:c.3196A>G XP_016873688.1:p.Thr1066Ala
XM_017018201.2:c.3199A>G XP_016873690.1:p.Thr1067Ala
XM_017018202.1:c.1696A>G XP_016873691.1:p.Thr566Ala
XM_017018204.1:c.1087A>G XP_016873693.1:p.Thr363Ala
XM_024448668.1:c.1498A>G XP_024304436.1:p.Thr500Ala
XR_001747945.2:n.3271A>G
XR_001747946.2:n.3202A>G
XR_002957189.1:n.3351A>G
NM_000352.6:c.3130A>G MANE Select NP_000343.2:p.Thr1044Ala
NM_001287174.2:c.3133A>G NP_001274103.1:p.Thr1045Ala
NM_001351295.2:c.3196A>G NP_001338224.1:p.Thr1066Ala
NM_001351296.2:c.3130A>G NP_001338225.1:p.Thr1044Ala
NM_001351297.2:c.3127A>G NP_001338226.1:p.Thr1043Ala
NR_147094.2:n.3279A>G
NM_001287174.3:c.3133A>G NP_001274103.1:p.Thr1045Ala