Canonical Allele Identifier: CA379798487
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404635G>C , CM000673.2:g.17404635G>C GRCh38
NC_000011.9:g.17426182G>C , CM000673.1:g.17426182G>C GRCh37
NC_000011.8:g.17382758G>C NCBI36
NG_008867.1:g.77268C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3003C>G
ENST00000528374.2:c.13C>G
ENST00000529967.6:n.1773C>G
ENST00000532220.2:n.1166C>G
ENST00000642611.2:n.3503C>G
ENST00000645004.2:n.933C>G
ENST00000682051.1:n.3450C>G
ENST00000682110.1:n.3503C>G
ENST00000682140.1:c.3431C>G ENSP00000507829.1:p.Ser1144Cys
ENST00000682185.1:n.4739C>G
ENST00000682204.1:c.*1572C>G ENSP00000507094.1:n.*1572C>G
ENST00000682215.1:n.3500C>G
ENST00000682288.1:c.*1865C>G ENSP00000507506.1:n.*1865C>G
ENST00000682442.1:n.3723C>G
ENST00000682528.1:n.3580C>G
ENST00000682673.1:n.3447C>G
ENST00000682805.1:n.3500C>G
ENST00000682965.1:c.3396+859C>G ENSP00000508229.1:n.3396+859C>G
ENST00000683093.1:n.3602C>G
ENST00000683136.1:c.3431C>G ENSP00000507768.1:p.Ser1144Cys
ENST00000683153.1:n.3659C>G
ENST00000683365.1:n.3605C>G
ENST00000683377.1:n.3503C>G
ENST00000683456.1:c.*571C>G ENSP00000508318.1:n.*571C>G
ENST00000683522.1:n.3503C>G
ENST00000683562.1:c.*1603C>G ENSP00000508265.1:n.*1603C>G
ENST00000683693.1:n.3580C>G
ENST00000683725.1:c.3434C>G ENSP00000507496.1:p.Ser1145Cys
ENST00000684010.1:n.3498C>G
ENST00000684157.1:n.3503C>G
ENST00000684253.1:n.3406C>G
ENST00000684288.1:c.*1606C>G ENSP00000507143.1:n.*1606C>G
ENST00000684313.1:n.2935C>G
ENST00000684332.1:n.3576C>G
ENST00000684371.1:n.3609C>G
ENST00000684404.1:n.3546C>G
ENST00000684442.1:n.3503C>G
ENST00000684555.1:c.*1646C>G ENSP00000507705.1:n.*1646C>G
ENST00000684571.1:c.3275C>G ENSP00000506935.1:p.Ser1092Cys
ENST00000684593.1:c.*3139C>G ENSP00000507005.1:n.*3139C>G
ENST00000684711.1:c.*1830C>G ENSP00000506841.1:n.*1830C>G
ENST00000302539.9:c.3437C>G ENSP00000303960.4:p.Ser1146Cys
ENST00000389817.8:c.3434C>G MANE Select ENSP00000374467.4:p.Ser1145Cys
ENST00000642271.1:c.3431C>G ENSP00000493749.1:p.Ser1144Cys
ENST00000642579.1:c.1518C>G
ENST00000642611.1:n.3388C>G
ENST00000642902.1:c.3216C>G
ENST00000643260.1:c.3434C>G ENSP00000494450.1:p.Ser1145Cys
ENST00000643562.1:c.*1410C>G ENSP00000496124.1:n.*1410C>G
ENST00000643925.1:c.1558C>G
ENST00000644447.1:c.1790C>G ENSP00000496282.1:p.Ser597Cys
ENST00000644484.1:c.*1689C>G ENSP00000493558.1:n.*1689C>G
ENST00000644675.1:c.*1606C>G ENSP00000494567.1:n.*1606C>G
ENST00000644757.1:c.*1719C>G ENSP00000495085.1:n.*1719C>G
ENST00000644772.1:c.3500C>G ENSP00000494321.1:p.Ser1167Cys
ENST00000645004.1:n.573C>G
ENST00000645076.1:c.2633C>G
ENST00000645417.1:c.600C>G
ENST00000645744.1:c.*1698C>G ENSP00000494564.1:n.*1698C>G
ENST00000645760.1:c.3709C>G
ENST00000645884.1:c.*571C>G ENSP00000495516.1:n.*571C>G
ENST00000646003.1:c.*1390C>G ENSP00000495259.1:n.*1390C>G
ENST00000646207.1:c.*1901C>G ENSP00000495025.1:n.*1901C>G
ENST00000646276.1:c.*1707C>G ENSP00000496070.1:n.*1707C>G
ENST00000646592.1:c.2740C>G
ENST00000646902.1:c.3431C>G ENSP00000494101.1:p.Ser1144Cys
ENST00000646993.1:c.*1830C>G ENSP00000493720.1:n.*1830C>G
ENST00000647013.1:c.3440C>G ENSP00000496741.1:n.3440C>G
ENST00000647015.1:c.3185C>G ENSP00000495389.1:p.Ser1062Cys
ENST00000647086.1:c.*3164C>G ENSP00000493677.1:n.*3164C>G
ENST00000647158.1:c.*1575C>G ENSP00000495744.1:n.*1575C>G
ENST00000302539.8:c.3437C>G ENSP00000303960.4:p.Ser1146Cys
ENST00000389817.7:c.3434C>G ENSP00000374467.3:p.Ser1145Cys
ENST00000524561.1:n.566C>G
ENST00000527905.5:c.*310C>G ENSP00000431653.1:n.*310C>G
NM_000352.4:c.3434C>G NP_000343.2:p.Ser1145Cys
NM_001287174.1:c.3437C>G NP_001274103.1:p.Ser1146Cys
XM_011520331.1:c.3434C>G XP_011518633.1:p.Ser1145Cys
XM_011520332.1:c.3437C>G XP_011518634.1:p.Ser1146Cys
XM_011520333.1:c.1934C>G XP_011518635.1:p.Ser645Cys
XR_930890.1:n.3500C>G
XR_930892.1:n.3400C>G
XR_930893.1:n.3397C>G
NM_001351295.1:c.3500C>G NP_001338224.1:p.Ser1167Cys
NM_001351296.1:c.3434C>G NP_001338225.1:p.Ser1145Cys
NM_001351297.1:c.3431C>G NP_001338226.1:p.Ser1144Cys
NR_147094.1:n.3583C>G
XM_017018197.2:c.3503C>G XP_016873686.1:p.Ser1168Cys
XM_017018199.1:c.3500C>G XP_016873688.1:p.Ser1167Cys
XM_017018201.2:c.3503C>G XP_016873690.1:p.Ser1168Cys
XM_017018202.1:c.2000C>G XP_016873691.1:p.Ser667Cys
XM_017018204.1:c.1391C>G XP_016873693.1:p.Ser464Cys
XM_024448668.1:c.1802C>G XP_024304436.1:p.Ser601Cys
XR_001747945.2:n.3575C>G
XR_001747946.2:n.3506C>G
XR_002957189.1:n.3655C>G
NM_000352.6:c.3434C>G MANE Select NP_000343.2:p.Ser1145Cys
NM_001287174.2:c.3437C>G NP_001274103.1:p.Ser1146Cys
NM_001351295.2:c.3500C>G NP_001338224.1:p.Ser1167Cys
NM_001351296.2:c.3434C>G NP_001338225.1:p.Ser1145Cys
NM_001351297.2:c.3431C>G NP_001338226.1:p.Ser1144Cys
NR_147094.2:n.3583C>G
NM_001287174.3:c.3437C>G NP_001274103.1:p.Ser1146Cys