Canonical Allele Identifier: CA379786606
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 434057
dbSNP Id: rs1554904936

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395652G>C , CM000673.2:g.17395652G>C GRCh38
NC_000011.9:g.17417199G>C , CM000673.1:g.17417199G>C GRCh37
NC_000011.8:g.17373775G>C NCBI36
NG_008867.1:g.86251C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3866C>G
ENST00000528374.2:c.856C>G
ENST00000529967.6:n.2604C>G
ENST00000532220.2:n.3498C>G
ENST00000642611.2:n.5598C>G
ENST00000644057.2:n.841C>G
ENST00000645004.2:n.1764C>G
ENST00000682051.1:n.4427C>G
ENST00000682110.1:n.4480C>G
ENST00000682140.1:c.*51C>G ENSP00000507829.1:n.*51C>G
ENST00000682185.1:n.5570C>G
ENST00000682204.1:c.*2403C>G ENSP00000507094.1:n.*2403C>G
ENST00000682215.1:n.4847C>G
ENST00000682288.1:c.*2696C>G ENSP00000507506.1:n.*2696C>G
ENST00000682442.1:n.4700C>G
ENST00000682528.1:n.4557C>G
ENST00000682673.1:n.4424C>G
ENST00000682805.1:n.4885C>G
ENST00000682965.1:c.*687C>G ENSP00000508229.1:n.*687C>G
ENST00000683093.1:n.5564C>G
ENST00000683136.1:c.4148C>G ENSP00000507768.1:p.Ser1383Cys
ENST00000683153.1:n.4522C>G
ENST00000683365.1:n.4582C>G
ENST00000683377.1:n.4480C>G
ENST00000683456.1:c.*1402C>G ENSP00000508318.1:n.*1402C>G
ENST00000683522.1:n.4480C>G
ENST00000683562.1:c.*2434C>G ENSP00000508265.1:n.*2434C>G
ENST00000683693.1:n.6045C>G
ENST00000683725.1:c.4265C>G ENSP00000507496.1:p.Ser1422Cys
ENST00000684010.1:n.4475C>G
ENST00000684157.1:n.5465C>G
ENST00000684253.1:n.4383C>G
ENST00000684288.1:c.*2437C>G ENSP00000507143.1:n.*2437C>G
ENST00000684313.1:n.3912C>G
ENST00000684332.1:n.4553C>G
ENST00000684371.1:n.4586C>G
ENST00000684404.1:n.5508C>G
ENST00000684442.1:n.4704C>G
ENST00000684555.1:c.*2477C>G ENSP00000507705.1:n.*2477C>G
ENST00000684571.1:c.4106C>G ENSP00000506935.1:p.Ser1369Cys
ENST00000684593.1:c.*3970C>G ENSP00000507005.1:n.*3970C>G
ENST00000684711.1:c.*2661C>G ENSP00000506841.1:n.*2661C>G
ENST00000302539.9:c.4268C>G ENSP00000303960.4:p.Ser1423Cys
ENST00000389817.8:c.4265C>G MANE Select ENSP00000374467.4:p.Ser1422Cys
ENST00000642271.1:c.4262C>G ENSP00000493749.1:p.Ser1421Cys
ENST00000642579.1:c.2319C>G
ENST00000642611.1:n.5483C>G
ENST00000642902.1:c.4047C>G
ENST00000643260.1:c.4265C>G ENSP00000494450.1:p.Ser1422Cys
ENST00000643562.1:c.*2387C>G ENSP00000496124.1:n.*2387C>G
ENST00000643925.1:c.2905C>G
ENST00000644057.1:n.342C>G
ENST00000644484.1:c.*3651C>G ENSP00000493558.1:n.*3651C>G
ENST00000644675.1:c.*2437C>G ENSP00000494567.1:n.*2437C>G
ENST00000644757.1:c.*3202+612C>G ENSP00000495085.1:n.*3202+612C>G
ENST00000644772.1:c.4331C>G ENSP00000494321.1:p.Ser1444Cys
ENST00000645004.1:n.1958C>G
ENST00000645076.1:c.3464C>G
ENST00000645417.1:c.1453C>G
ENST00000645744.1:c.*3964-14C>G ENSP00000494564.1:n.*3964-14C>G
ENST00000645760.1:c.4686C>G
ENST00000645884.1:c.*1548C>G ENSP00000495516.1:n.*1548C>G
ENST00000646003.1:c.*2301-14C>G ENSP00000495259.1:n.*2301-14C>G
ENST00000646207.1:c.*3102C>G ENSP00000495025.1:n.*3102C>G
ENST00000646276.1:c.*3669C>G ENSP00000496070.1:n.*3669C>G
ENST00000646592.1:c.3571C>G
ENST00000646902.1:c.4232C>G ENSP00000494101.1:p.Ser1411Cys
ENST00000646993.1:c.*2807C>G ENSP00000493720.1:n.*2807C>G
ENST00000647013.1:c.4271C>G ENSP00000496741.1:n.4271C>G
ENST00000647015.1:c.4016C>G ENSP00000495389.1:p.Ser1339Cys
ENST00000647086.1:c.*3851C>G ENSP00000493677.1:n.*3851C>G
ENST00000647158.1:c.*2552C>G ENSP00000495744.1:n.*2552C>G
ENST00000302539.8:c.4268C>G ENSP00000303960.4:p.Ser1423Cys
ENST00000389817.7:c.4265C>G ENSP00000374467.3:p.Ser1422Cys
ENST00000525022.1:n.264C>G
ENST00000526037.5:n.129C>G
ENST00000526168.5:c.67-14C>G
ENST00000531642.5:c.101C>G
NM_000352.4:c.4265C>G NP_000343.2:p.Ser1422Cys
NM_001287174.1:c.4268C>G NP_001274103.1:p.Ser1423Cys
XM_011520331.1:c.4265C>G XP_011518633.1:p.Ser1422Cys
XM_011520332.1:c.4268C>G XP_011518634.1:p.Ser1423Cys
XM_011520333.1:c.2765C>G XP_011518635.1:p.Ser922Cys
XR_930890.1:n.4331C>G
NM_001351295.1:c.4331C>G NP_001338224.1:p.Ser1444Cys
NM_001351296.1:c.4265C>G NP_001338225.1:p.Ser1422Cys
NM_001351297.1:c.4262C>G NP_001338226.1:p.Ser1421Cys
NR_147094.1:n.4560C>G
XM_017018197.2:c.4334C>G XP_016873686.1:p.Ser1445Cys
XM_017018199.1:c.4331C>G XP_016873688.1:p.Ser1444Cys
XM_017018201.2:c.4334C>G XP_016873690.1:p.Ser1445Cys
XM_017018202.1:c.2831C>G XP_016873691.1:p.Ser944Cys
XM_017018204.1:c.2222C>G XP_016873693.1:p.Ser741Cys
XM_024448668.1:c.2633C>G XP_024304436.1:p.Ser878Cys
XR_001747945.2:n.4406C>G
XR_001747946.2:n.4337C>G
XR_002957189.1:n.6120C>G
NM_000352.6:c.4265C>G MANE Select NP_000343.2:p.Ser1422Cys
NM_001287174.2:c.4268C>G NP_001274103.1:p.Ser1423Cys
NM_001351295.2:c.4331C>G NP_001338224.1:p.Ser1444Cys
NM_001351296.2:c.4265C>G NP_001338225.1:p.Ser1422Cys
NM_001351297.2:c.4262C>G NP_001338226.1:p.Ser1421Cys
NR_147094.2:n.4560C>G
NM_001287174.3:c.4268C>G NP_001274103.1:p.Ser1423Cys