Canonical Allele Identifier: CA379790549
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396968G>C , CM000673.2:g.17396968G>C GRCh38
NC_000011.9:g.17418515G>C , CM000673.1:g.17418515G>C GRCh37
NC_000011.8:g.17375091G>C NCBI36
NG_008867.1:g.84935C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3668C>G
ENST00000528374.2:c.658C>G
ENST00000529967.6:n.2406C>G
ENST00000532220.2:n.2315C>G
ENST00000642611.2:n.4282C>G
ENST00000644057.2:n.510C>G
ENST00000645004.2:n.1566C>G
ENST00000682051.1:n.4229C>G
ENST00000682110.1:n.4282C>G
ENST00000682140.1:c.3985+225C>G ENSP00000507829.1:n.3985+225C>G
ENST00000682185.1:n.5372C>G
ENST00000682204.1:c.*2205C>G ENSP00000507094.1:n.*2205C>G
ENST00000682215.1:n.4649C>G
ENST00000682288.1:c.*2498C>G ENSP00000507506.1:n.*2498C>G
ENST00000682442.1:n.4502C>G
ENST00000682528.1:n.4359C>G
ENST00000682673.1:n.4226C>G
ENST00000682805.1:n.4649C>G
ENST00000682965.1:c.*489C>G ENSP00000508229.1:n.*489C>G
ENST00000683093.1:n.4381C>G
ENST00000683136.1:c.3950C>G ENSP00000507768.1:p.Ser1317Cys
ENST00000683153.1:n.4324C>G
ENST00000683365.1:n.4384C>G
ENST00000683377.1:n.4282C>G
ENST00000683456.1:c.*1204C>G ENSP00000508318.1:n.*1204C>G
ENST00000683522.1:n.4282C>G
ENST00000683562.1:c.*2236C>G ENSP00000508265.1:n.*2236C>G
ENST00000683693.1:n.4729C>G
ENST00000683725.1:c.4067C>G ENSP00000507496.1:p.Ser1356Cys
ENST00000684010.1:n.4277C>G
ENST00000684157.1:n.4282C>G
ENST00000684253.1:n.4185C>G
ENST00000684288.1:c.*2239C>G ENSP00000507143.1:n.*2239C>G
ENST00000684313.1:n.3714C>G
ENST00000684332.1:n.4355C>G
ENST00000684371.1:n.4388C>G
ENST00000684404.1:n.4325C>G
ENST00000684442.1:n.4506C>G
ENST00000684555.1:c.*2279C>G ENSP00000507705.1:n.*2279C>G
ENST00000684571.1:c.3908C>G ENSP00000506935.1:p.Ser1303Cys
ENST00000684593.1:c.*3772C>G ENSP00000507005.1:n.*3772C>G
ENST00000684711.1:c.*2463C>G ENSP00000506841.1:n.*2463C>G
ENST00000302539.9:c.4070C>G ENSP00000303960.4:p.Ser1357Cys
ENST00000389817.8:c.4067C>G MANE Select ENSP00000374467.4:p.Ser1356Cys
ENST00000642271.1:c.4064C>G ENSP00000493749.1:p.Ser1355Cys
ENST00000642579.1:c.2121C>G
ENST00000642611.1:n.4167C>G
ENST00000642902.1:c.3849C>G
ENST00000643260.1:c.4067C>G ENSP00000494450.1:p.Ser1356Cys
ENST00000643562.1:c.*2189C>G ENSP00000496124.1:n.*2189C>G
ENST00000643925.1:c.2707C>G
ENST00000644057.1:n.144C>G
ENST00000644484.1:c.*2468C>G ENSP00000493558.1:n.*2468C>G
ENST00000644675.1:c.*2239C>G ENSP00000494567.1:n.*2239C>G
ENST00000644757.1:c.*2498C>G ENSP00000495085.1:n.*2498C>G
ENST00000644772.1:c.4133C>G ENSP00000494321.1:p.Ser1378Cys
ENST00000645004.1:n.1722C>G
ENST00000645076.1:c.3266C>G
ENST00000645417.1:c.1255C>G
ENST00000645744.1:c.*2847C>G ENSP00000494564.1:n.*2847C>G
ENST00000645760.1:c.4488C>G
ENST00000645884.1:c.*1350C>G ENSP00000495516.1:n.*1350C>G
ENST00000646003.1:c.*2169C>G ENSP00000495259.1:n.*2169C>G
ENST00000646207.1:c.*2904C>G ENSP00000495025.1:n.*2904C>G
ENST00000646276.1:c.*2486C>G ENSP00000496070.1:n.*2486C>G
ENST00000646592.1:c.3373C>G
ENST00000646902.1:c.4034C>G ENSP00000494101.1:p.Ser1345Cys
ENST00000646993.1:c.*2609C>G ENSP00000493720.1:n.*2609C>G
ENST00000647013.1:c.4073C>G ENSP00000496741.1:n.4073C>G
ENST00000647015.1:c.3818C>G ENSP00000495389.1:p.Ser1273Cys
ENST00000647086.1:c.*3653C>G ENSP00000493677.1:n.*3653C>G
ENST00000647158.1:c.*2354C>G ENSP00000495744.1:n.*2354C>G
ENST00000302539.8:c.4070C>G ENSP00000303960.4:p.Ser1357Cys
ENST00000389817.7:c.4067C>G ENSP00000374467.3:p.Ser1356Cys
ENST00000527905.5:c.*1089C>G ENSP00000431653.1:n.*1089C>G
ENST00000528374.1:c.549C>G
ENST00000531137.1:n.632C>G
ENST00000531891.1:c.405C>G
ENST00000532220.1:n.541C>G
NM_000352.4:c.4067C>G NP_000343.2:p.Ser1356Cys
NM_001287174.1:c.4070C>G NP_001274103.1:p.Ser1357Cys
XM_011520331.1:c.4067C>G XP_011518633.1:p.Ser1356Cys
XM_011520332.1:c.4070C>G XP_011518634.1:p.Ser1357Cys
XM_011520333.1:c.2567C>G XP_011518635.1:p.Ser856Cys
XR_930890.1:n.4133C>G
NM_001351295.1:c.4133C>G NP_001338224.1:p.Ser1378Cys
NM_001351296.1:c.4067C>G NP_001338225.1:p.Ser1356Cys
NM_001351297.1:c.4064C>G NP_001338226.1:p.Ser1355Cys
NR_147094.1:n.4362C>G
XM_017018197.2:c.4136C>G XP_016873686.1:p.Ser1379Cys
XM_017018199.1:c.4133C>G XP_016873688.1:p.Ser1378Cys
XM_017018201.2:c.4136C>G XP_016873690.1:p.Ser1379Cys
XM_017018202.1:c.2633C>G XP_016873691.1:p.Ser878Cys
XM_017018204.1:c.2024C>G XP_016873693.1:p.Ser675Cys
XM_024448668.1:c.2435C>G XP_024304436.1:p.Ser812Cys
XR_001747945.2:n.4208C>G
XR_001747946.2:n.4139C>G
XR_002957189.1:n.4804C>G
NM_000352.6:c.4067C>G MANE Select NP_000343.2:p.Ser1356Cys
NM_001287174.2:c.4070C>G NP_001274103.1:p.Ser1357Cys
NM_001351295.2:c.4133C>G NP_001338224.1:p.Ser1378Cys
NM_001351296.2:c.4067C>G NP_001338225.1:p.Ser1356Cys
NM_001351297.2:c.4064C>G NP_001338226.1:p.Ser1355Cys
NR_147094.2:n.4362C>G
NM_001287174.3:c.4070C>G NP_001274103.1:p.Ser1357Cys