Canonical Allele Identifier: CA379801208
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406641T>C , CM000673.2:g.17406641T>C GRCh38
NC_000011.9:g.17428188T>C , CM000673.1:g.17428188T>C GRCh37
NC_000011.8:g.17384764T>C NCBI36
NG_008867.1:g.75262A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2879A>G
ENST00000529967.6:n.1649A>G
ENST00000532220.2:n.1042A>G
ENST00000642611.2:n.3379A>G
ENST00000645004.2:n.809A>G
ENST00000682051.1:n.3326A>G
ENST00000682110.1:n.3379A>G
ENST00000682140.1:c.3307A>G ENSP00000507829.1:p.Ile1103Val
ENST00000682185.1:n.4615A>G
ENST00000682204.1:c.*1448A>G ENSP00000507094.1:n.*1448A>G
ENST00000682215.1:n.3376A>G
ENST00000682288.1:c.*1741A>G ENSP00000507506.1:n.*1741A>G
ENST00000682442.1:n.3599A>G
ENST00000682528.1:n.3456A>G
ENST00000682673.1:n.3323A>G
ENST00000682805.1:n.3376A>G
ENST00000682965.1:c.3307A>G ENSP00000508229.1:p.Ile1103Val
ENST00000683093.1:n.3478A>G
ENST00000683136.1:c.3307A>G ENSP00000507768.1:p.Ile1103Val
ENST00000683153.1:n.3535A>G
ENST00000683365.1:n.3481A>G
ENST00000683377.1:n.3379A>G
ENST00000683456.1:c.*447A>G ENSP00000508318.1:n.*447A>G
ENST00000683522.1:n.3379A>G
ENST00000683562.1:c.*1479A>G ENSP00000508265.1:n.*1479A>G
ENST00000683693.1:n.3456A>G
ENST00000683725.1:c.3310A>G ENSP00000507496.1:p.Ile1104Val
ENST00000684010.1:n.3374A>G
ENST00000684157.1:n.3379A>G
ENST00000684253.1:n.3282A>G
ENST00000684288.1:c.*1482A>G ENSP00000507143.1:n.*1482A>G
ENST00000684313.1:n.2811A>G
ENST00000684332.1:n.3452A>G
ENST00000684371.1:n.3485A>G
ENST00000684404.1:n.3422A>G
ENST00000684442.1:n.3379A>G
ENST00000684555.1:c.*1522A>G ENSP00000507705.1:n.*1522A>G
ENST00000684571.1:c.3151A>G ENSP00000506935.1:p.Ile1051Val
ENST00000684593.1:c.*3015A>G ENSP00000507005.1:n.*3015A>G
ENST00000684711.1:c.*1706A>G ENSP00000506841.1:n.*1706A>G
ENST00000302539.9:c.3313A>G ENSP00000303960.4:p.Ile1105Val
ENST00000389817.8:c.3310A>G MANE Select ENSP00000374467.4:p.Ile1104Val
ENST00000642271.1:c.3307A>G ENSP00000493749.1:p.Ile1103Val
ENST00000642579.1:c.1394A>G
ENST00000642611.1:n.3264A>G
ENST00000642902.1:c.3092A>G
ENST00000643260.1:c.3310A>G ENSP00000494450.1:p.Ile1104Val
ENST00000643562.1:c.*1286A>G ENSP00000496124.1:n.*1286A>G
ENST00000643925.1:c.1434A>G
ENST00000644447.1:c.1666A>G ENSP00000496282.1:p.Ile556Val
ENST00000644484.1:c.*1565A>G ENSP00000493558.1:n.*1565A>G
ENST00000644542.1:c.*3114A>G ENSP00000495532.1:n.*3114A>G
ENST00000644675.1:c.*1482A>G ENSP00000494567.1:n.*1482A>G
ENST00000644757.1:c.*1595A>G ENSP00000495085.1:n.*1595A>G
ENST00000644772.1:c.3376A>G ENSP00000494321.1:p.Ile1126Val
ENST00000645004.1:n.449A>G
ENST00000645076.1:c.2509A>G
ENST00000645417.1:c.476A>G
ENST00000645744.1:c.*1574A>G ENSP00000494564.1:n.*1574A>G
ENST00000645760.1:c.3585A>G
ENST00000645884.1:c.*447A>G ENSP00000495516.1:n.*447A>G
ENST00000646003.1:c.*1266A>G ENSP00000495259.1:n.*1266A>G
ENST00000646207.1:c.*1777A>G ENSP00000495025.1:n.*1777A>G
ENST00000646276.1:c.*1583A>G ENSP00000496070.1:n.*1583A>G
ENST00000646592.1:c.2616A>G
ENST00000646902.1:c.3307A>G ENSP00000494101.1:p.Ile1103Val
ENST00000646993.1:c.*1706A>G ENSP00000493720.1:n.*1706A>G
ENST00000647013.1:c.3316A>G ENSP00000496741.1:n.3316A>G
ENST00000647015.1:c.3061A>G ENSP00000495389.1:p.Ile1021Val
ENST00000647086.1:c.*3040A>G ENSP00000493677.1:n.*3040A>G
ENST00000647158.1:c.*1451A>G ENSP00000495744.1:n.*1451A>G
ENST00000302539.8:c.3313A>G ENSP00000303960.4:p.Ile1105Val
ENST00000389817.7:c.3310A>G ENSP00000374467.3:p.Ile1104Val
ENST00000524561.1:n.442A>G
ENST00000527905.5:c.*186A>G ENSP00000431653.1:n.*186A>G
NM_000352.4:c.3310A>G NP_000343.2:p.Ile1104Val
NM_001287174.1:c.3313A>G NP_001274103.1:p.Ile1105Val
XM_011520331.1:c.3310A>G XP_011518633.1:p.Ile1104Val
XM_011520332.1:c.3313A>G XP_011518634.1:p.Ile1105Val
XM_011520333.1:c.1810A>G XP_011518635.1:p.Ile604Val
XR_930890.1:n.3376A>G
XR_930891.1:n.3376A>G
XR_930892.1:n.3276A>G
XR_930893.1:n.3273A>G
NM_001351295.1:c.3376A>G NP_001338224.1:p.Ile1126Val
NM_001351296.1:c.3310A>G NP_001338225.1:p.Ile1104Val
NM_001351297.1:c.3307A>G NP_001338226.1:p.Ile1103Val
NR_147094.1:n.3459A>G
XM_017018197.2:c.3379A>G XP_016873686.1:p.Ile1127Val
XM_017018199.1:c.3376A>G XP_016873688.1:p.Ile1126Val
XM_017018201.2:c.3379A>G XP_016873690.1:p.Ile1127Val
XM_017018202.1:c.1876A>G XP_016873691.1:p.Ile626Val
XM_017018204.1:c.1267A>G XP_016873693.1:p.Ile423Val
XM_024448668.1:c.1678A>G XP_024304436.1:p.Ile560Val
XR_001747945.2:n.3451A>G
XR_001747946.2:n.3382A>G
XR_002957189.1:n.3531A>G
NM_000352.6:c.3310A>G MANE Select NP_000343.2:p.Ile1104Val
NM_001287174.2:c.3313A>G NP_001274103.1:p.Ile1105Val
NM_001351295.2:c.3376A>G NP_001338224.1:p.Ile1126Val
NM_001351296.2:c.3310A>G NP_001338225.1:p.Ile1104Val
NM_001351297.2:c.3307A>G NP_001338226.1:p.Ile1103Val
NR_147094.2:n.3459A>G
NM_001287174.3:c.3313A>G NP_001274103.1:p.Ile1105Val