Canonical Allele Identifier: CA379807622
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412725G>C , CM000673.2:g.17412725G>C GRCh38
NC_000011.9:g.17434272G>C , CM000673.1:g.17434272G>C GRCh37
NC_000011.8:g.17390848G>C NCBI36
NG_008867.1:g.69178C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2166C>G
ENST00000529967.6:n.756C>G
ENST00000642611.2:n.2566C>G
ENST00000682051.1:n.2513C>G
ENST00000682110.1:n.2566C>G
ENST00000682140.1:c.2494C>G ENSP00000507829.1:p.Gln832Glu
ENST00000682185.1:n.3802C>G
ENST00000682204.1:c.*635C>G ENSP00000507094.1:n.*635C>G
ENST00000682215.1:n.2563C>G
ENST00000682288.1:c.*928C>G ENSP00000507506.1:n.*928C>G
ENST00000682442.1:n.2687C>G
ENST00000682528.1:n.2563C>G
ENST00000682673.1:n.2510C>G
ENST00000682805.1:n.2563C>G
ENST00000682965.1:c.2494C>G ENSP00000508229.1:p.Gln832Glu
ENST00000683093.1:n.2665C>G
ENST00000683136.1:c.2494C>G ENSP00000507768.1:p.Gln832Glu
ENST00000683153.1:n.2722C>G
ENST00000683365.1:n.2668C>G
ENST00000683377.1:n.2566C>G
ENST00000683456.1:c.2497C>G ENSP00000508318.1:p.Gln833Glu
ENST00000683522.1:n.2566C>G
ENST00000683562.1:c.*666C>G ENSP00000508265.1:n.*666C>G
ENST00000683693.1:n.2563C>G
ENST00000683725.1:c.2497C>G ENSP00000507496.1:p.Gln833Glu
ENST00000684010.1:n.2481C>G
ENST00000684157.1:n.2566C>G
ENST00000684253.1:n.2469C>G
ENST00000684288.1:c.*669C>G ENSP00000507143.1:n.*669C>G
ENST00000684313.1:n.1998C>G
ENST00000684332.1:n.2639C>G
ENST00000684371.1:n.2672C>G
ENST00000684404.1:n.2563C>G
ENST00000684442.1:n.2566C>G
ENST00000684555.1:c.*709C>G ENSP00000507705.1:n.*709C>G
ENST00000684571.1:c.2338C>G ENSP00000506935.1:p.Gln780Glu
ENST00000684593.1:c.*2202C>G ENSP00000507005.1:n.*2202C>G
ENST00000684711.1:c.*893C>G ENSP00000506841.1:n.*893C>G
ENST00000302539.9:c.2500C>G ENSP00000303960.4:p.Gln834Glu
ENST00000389817.8:c.2497C>G MANE Select ENSP00000374467.4:p.Gln833Glu
ENST00000642271.1:c.2494C>G ENSP00000493749.1:p.Gln832Glu
ENST00000642579.1:c.581C>G
ENST00000642611.1:n.2451C>G
ENST00000642902.1:c.2332C>G
ENST00000643260.1:c.2497C>G ENSP00000494450.1:p.Gln833Glu
ENST00000643562.1:c.*473C>G ENSP00000496124.1:n.*473C>G
ENST00000643925.1:c.541C>G
ENST00000644447.1:c.853C>G ENSP00000496282.1:p.Gln285Glu
ENST00000644472.1:c.*858C>G ENSP00000495378.1:n.*858C>G
ENST00000644484.1:c.*706C>G ENSP00000493558.1:n.*706C>G
ENST00000644542.1:c.*2202C>G ENSP00000495532.1:n.*2202C>G
ENST00000644675.1:c.*669C>G ENSP00000494567.1:n.*669C>G
ENST00000644757.1:c.*802C>G ENSP00000495085.1:n.*802C>G
ENST00000644772.1:c.2563C>G ENSP00000494321.1:p.Gln855Glu
ENST00000645076.1:c.1749C>G
ENST00000645744.1:c.*861C>G ENSP00000494564.1:n.*861C>G
ENST00000645760.1:c.2772C>G
ENST00000645884.1:c.2497C>G ENSP00000495516.1:p.Gln833Glu
ENST00000646003.1:c.*553C>G ENSP00000495259.1:n.*553C>G
ENST00000646207.1:c.*861C>G ENSP00000495025.1:n.*861C>G
ENST00000646276.1:c.*770C>G ENSP00000496070.1:n.*770C>G
ENST00000646592.1:c.1723C>G
ENST00000646902.1:c.2494C>G ENSP00000494101.1:p.Gln832Glu
ENST00000646993.1:c.*893C>G ENSP00000493720.1:n.*893C>G
ENST00000647013.1:c.2503C>G ENSP00000496741.1:n.2503C>G
ENST00000647015.1:c.2248C>G ENSP00000495389.1:p.Gln750Glu
ENST00000647086.1:c.*2227C>G ENSP00000493677.1:n.*2227C>G
ENST00000647158.1:c.*638C>G ENSP00000495744.1:n.*638C>G
ENST00000302539.8:c.2500C>G ENSP00000303960.4:p.Gln834Glu
ENST00000389817.7:c.2497C>G ENSP00000374467.3:p.Gln833Glu
ENST00000526921.5:n.181C>G
ENST00000527905.5:c.2467C>G ENSP00000431653.1:p.Gln823Glu
ENST00000529967.5:n.166C>G
ENST00000530147.5:n.80C>G
ENST00000531911.1:n.611C>G
NM_000352.4:c.2497C>G NP_000343.2:p.Gln833Glu
NM_001287174.1:c.2500C>G NP_001274103.1:p.Gln834Glu
XM_011520331.1:c.2497C>G XP_011518633.1:p.Gln833Glu
XM_011520332.1:c.2500C>G XP_011518634.1:p.Gln834Glu
XM_011520333.1:c.997C>G XP_011518635.1:p.Gln333Glu
XM_011520334.1:c.2500C>G XP_011518636.1:p.Gln834Glu
XR_930890.1:n.2563C>G
XR_930891.1:n.2563C>G
XR_930892.1:n.2563C>G
XR_930893.1:n.2560C>G
NM_001351295.1:c.2563C>G NP_001338224.1:p.Gln855Glu
NM_001351296.1:c.2497C>G NP_001338225.1:p.Gln833Glu
NM_001351297.1:c.2494C>G NP_001338226.1:p.Gln832Glu
NR_147094.1:n.2566C>G
XM_017018197.2:c.2566C>G XP_016873686.1:p.Gln856Glu
XM_017018199.1:c.2563C>G XP_016873688.1:p.Gln855Glu
XM_017018201.2:c.2566C>G XP_016873690.1:p.Gln856Glu
XM_017018202.1:c.1063C>G XP_016873691.1:p.Gln355Glu
XM_017018204.1:c.454C>G XP_016873693.1:p.Gln152Glu
XM_024448668.1:c.865C>G XP_024304436.1:p.Gln289Glu
XR_001747945.2:n.2638C>G
XR_001747946.2:n.2569C>G
XR_002957189.1:n.2638C>G
NM_000352.6:c.2497C>G MANE Select NP_000343.2:p.Gln833Glu
NM_001287174.2:c.2500C>G NP_001274103.1:p.Gln834Glu
NM_001351295.2:c.2563C>G NP_001338224.1:p.Gln855Glu
NM_001351296.2:c.2497C>G NP_001338225.1:p.Gln833Glu
NM_001351297.2:c.2494C>G NP_001338226.1:p.Gln832Glu
NR_147094.2:n.2566C>G
NM_001287174.3:c.2500C>G NP_001274103.1:p.Gln834Glu