Canonical Allele Identifier: CA379803165
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406910G>C , CM000673.2:g.17406910G>C GRCh38
NC_000011.9:g.17428457G>C , CM000673.1:g.17428457G>C GRCh37
NC_000011.8:g.17385033G>C NCBI36
NG_008867.1:g.74993C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2709C>G
ENST00000529967.6:n.1479C>G
ENST00000532220.2:n.872C>G
ENST00000642611.2:n.3209C>G
ENST00000645004.2:n.639C>G
ENST00000682051.1:n.3156C>G
ENST00000682110.1:n.3209C>G
ENST00000682140.1:c.3137C>G ENSP00000507829.1:p.Ala1046Gly
ENST00000682185.1:n.4445C>G
ENST00000682204.1:c.*1278C>G ENSP00000507094.1:n.*1278C>G
ENST00000682215.1:n.3206C>G
ENST00000682288.1:c.*1571C>G ENSP00000507506.1:n.*1571C>G
ENST00000682442.1:n.3330C>G
ENST00000682528.1:n.3286C>G
ENST00000682673.1:n.3153C>G
ENST00000682805.1:n.3206C>G
ENST00000682965.1:c.3137C>G ENSP00000508229.1:p.Ala1046Gly
ENST00000683093.1:n.3308C>G
ENST00000683136.1:c.3137C>G ENSP00000507768.1:p.Ala1046Gly
ENST00000683153.1:n.3365C>G
ENST00000683365.1:n.3311C>G
ENST00000683377.1:n.3209C>G
ENST00000683456.1:c.*277C>G ENSP00000508318.1:n.*277C>G
ENST00000683522.1:n.3209C>G
ENST00000683562.1:c.*1309C>G ENSP00000508265.1:n.*1309C>G
ENST00000683693.1:n.3286C>G
ENST00000683725.1:c.3140C>G ENSP00000507496.1:p.Ala1047Gly
ENST00000684010.1:n.3204C>G
ENST00000684157.1:n.3209C>G
ENST00000684253.1:n.3112C>G
ENST00000684288.1:c.*1312C>G ENSP00000507143.1:n.*1312C>G
ENST00000684313.1:n.2641C>G
ENST00000684332.1:n.3282C>G
ENST00000684371.1:n.3315C>G
ENST00000684404.1:n.3252C>G
ENST00000684442.1:n.3209C>G
ENST00000684555.1:c.*1352C>G ENSP00000507705.1:n.*1352C>G
ENST00000684571.1:c.2981C>G ENSP00000506935.1:p.Ala994Gly
ENST00000684593.1:c.*2845C>G ENSP00000507005.1:n.*2845C>G
ENST00000684711.1:c.*1536C>G ENSP00000506841.1:n.*1536C>G
ENST00000302539.9:c.3143C>G ENSP00000303960.4:p.Ala1048Gly
ENST00000389817.8:c.3140C>G MANE Select ENSP00000374467.4:p.Ala1047Gly
ENST00000642271.1:c.3137C>G ENSP00000493749.1:p.Ala1046Gly
ENST00000642579.1:c.1224C>G
ENST00000642611.1:n.3094C>G
ENST00000642902.1:c.2922C>G
ENST00000643260.1:c.3140C>G ENSP00000494450.1:p.Ala1047Gly
ENST00000643562.1:c.*1116C>G ENSP00000496124.1:n.*1116C>G
ENST00000643925.1:c.1264C>G
ENST00000644447.1:c.1496C>G ENSP00000496282.1:p.Ala499Gly
ENST00000644484.1:c.*1395C>G ENSP00000493558.1:n.*1395C>G
ENST00000644542.1:c.*2845C>G ENSP00000495532.1:n.*2845C>G
ENST00000644675.1:c.*1312C>G ENSP00000494567.1:n.*1312C>G
ENST00000644757.1:c.*1425C>G ENSP00000495085.1:n.*1425C>G
ENST00000644772.1:c.3206C>G ENSP00000494321.1:p.Ala1069Gly
ENST00000645004.1:n.279C>G
ENST00000645076.1:c.2339C>G
ENST00000645417.1:c.306C>G
ENST00000645744.1:c.*1404C>G ENSP00000494564.1:n.*1404C>G
ENST00000645760.1:c.3415C>G
ENST00000645884.1:c.*277C>G ENSP00000495516.1:n.*277C>G
ENST00000646003.1:c.*1096C>G ENSP00000495259.1:n.*1096C>G
ENST00000646207.1:c.*1607C>G ENSP00000495025.1:n.*1607C>G
ENST00000646276.1:c.*1413C>G ENSP00000496070.1:n.*1413C>G
ENST00000646592.1:c.2446C>G
ENST00000646902.1:c.3137C>G ENSP00000494101.1:p.Ala1046Gly
ENST00000646993.1:c.*1536C>G ENSP00000493720.1:n.*1536C>G
ENST00000647013.1:c.3146C>G ENSP00000496741.1:n.3146C>G
ENST00000647015.1:c.2891C>G ENSP00000495389.1:p.Ala964Gly
ENST00000647086.1:c.*2870C>G ENSP00000493677.1:n.*2870C>G
ENST00000647158.1:c.*1281C>G ENSP00000495744.1:n.*1281C>G
ENST00000302539.8:c.3143C>G ENSP00000303960.4:p.Ala1048Gly
ENST00000389817.7:c.3140C>G ENSP00000374467.3:p.Ala1047Gly
ENST00000524561.1:n.272C>G
ENST00000526921.5:n.824C>G
ENST00000527905.5:c.*16C>G ENSP00000431653.1:n.*16C>G
ENST00000529967.5:n.809C>G
NM_000352.4:c.3140C>G NP_000343.2:p.Ala1047Gly
NM_001287174.1:c.3143C>G NP_001274103.1:p.Ala1048Gly
XM_011520331.1:c.3140C>G XP_011518633.1:p.Ala1047Gly
XM_011520332.1:c.3143C>G XP_011518634.1:p.Ala1048Gly
XM_011520333.1:c.1640C>G XP_011518635.1:p.Ala547Gly
XR_930890.1:n.3206C>G
XR_930891.1:n.3206C>G
XR_930892.1:n.3106C>G
XR_930893.1:n.3103C>G
NM_001351295.1:c.3206C>G NP_001338224.1:p.Ala1069Gly
NM_001351296.1:c.3140C>G NP_001338225.1:p.Ala1047Gly
NM_001351297.1:c.3137C>G NP_001338226.1:p.Ala1046Gly
NR_147094.1:n.3289C>G
XM_017018197.2:c.3209C>G XP_016873686.1:p.Ala1070Gly
XM_017018199.1:c.3206C>G XP_016873688.1:p.Ala1069Gly
XM_017018201.2:c.3209C>G XP_016873690.1:p.Ala1070Gly
XM_017018202.1:c.1706C>G XP_016873691.1:p.Ala569Gly
XM_017018204.1:c.1097C>G XP_016873693.1:p.Ala366Gly
XM_024448668.1:c.1508C>G XP_024304436.1:p.Ala503Gly
XR_001747945.2:n.3281C>G
XR_001747946.2:n.3212C>G
XR_002957189.1:n.3361C>G
NM_000352.6:c.3140C>G MANE Select NP_000343.2:p.Ala1047Gly
NM_001287174.2:c.3143C>G NP_001274103.1:p.Ala1048Gly
NM_001351295.2:c.3206C>G NP_001338224.1:p.Ala1069Gly
NM_001351296.2:c.3140C>G NP_001338225.1:p.Ala1047Gly
NM_001351297.2:c.3137C>G NP_001338226.1:p.Ala1046Gly
NR_147094.2:n.3289C>G
NM_001287174.3:c.3143C>G NP_001274103.1:p.Ala1048Gly