Canonical Allele Identifier: CA379783555
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394369A>C , CM000673.2:g.17394369A>C GRCh38
NC_000011.9:g.17415916A>C , CM000673.1:g.17415916A>C GRCh37
NC_000011.8:g.17372492A>C NCBI36
NG_008867.1:g.87534T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4043T>G
ENST00000526037.6:n.377T>G
ENST00000528374.2:c.1033T>G
ENST00000529967.6:n.2781T>G
ENST00000532220.2:n.3675T>G
ENST00000642611.2:n.5775T>G
ENST00000644057.2:n.1018T>G
ENST00000645004.2:n.1941T>G
ENST00000682051.1:n.4604T>G
ENST00000682110.1:n.4657T>G
ENST00000682140.1:c.*228T>G ENSP00000507829.1:n.*228T>G
ENST00000682185.1:n.5747T>G
ENST00000682204.1:c.*2580T>G ENSP00000507094.1:n.*2580T>G
ENST00000682215.1:n.5024T>G
ENST00000682288.1:c.*2873T>G ENSP00000507506.1:n.*2873T>G
ENST00000682442.1:n.4877T>G
ENST00000682528.1:n.4734T>G
ENST00000682673.1:n.4601T>G
ENST00000682805.1:n.5062T>G
ENST00000682965.1:c.*864T>G ENSP00000508229.1:n.*864T>G
ENST00000683093.1:n.5637T>G
ENST00000683136.1:c.4325T>G ENSP00000507768.1:p.Phe1442Cys
ENST00000683153.1:n.4699T>G
ENST00000683365.1:n.4759T>G
ENST00000683377.1:n.4553T>G
ENST00000683456.1:c.*1579T>G ENSP00000508318.1:n.*1579T>G
ENST00000683522.1:n.4739T>G
ENST00000683562.1:c.*2507T>G ENSP00000508265.1:n.*2507T>G
ENST00000683693.1:n.6118T>G
ENST00000683725.1:c.4338T>G ENSP00000507496.1:p.Phe1446Leu
ENST00000684010.1:n.4652T>G
ENST00000684014.1:n.629T>G
ENST00000684157.1:n.5642T>G
ENST00000684253.1:n.4560T>G
ENST00000684288.1:c.*2614T>G ENSP00000507143.1:n.*2614T>G
ENST00000684313.1:n.4089T>G
ENST00000684332.1:n.4730T>G
ENST00000684371.1:n.4763T>G
ENST00000684404.1:n.5685T>G
ENST00000684442.1:n.4881T>G
ENST00000684555.1:c.*2654T>G ENSP00000507705.1:n.*2654T>G
ENST00000684571.1:c.4283T>G ENSP00000506935.1:p.Phe1428Cys
ENST00000684593.1:c.*4147T>G ENSP00000507005.1:n.*4147T>G
ENST00000684711.1:c.*2838T>G ENSP00000506841.1:n.*2838T>G
ENST00000302539.9:c.4445T>G ENSP00000303960.4:p.Phe1482Cys
ENST00000389817.8:c.4442T>G MANE Select ENSP00000374467.4:p.Phe1481Cys
ENST00000642271.1:c.4439T>G ENSP00000493749.1:p.Phe1480Cys
ENST00000642579.1:c.2496T>G
ENST00000642611.1:n.5660T>G
ENST00000642902.1:c.4224T>G
ENST00000643260.1:c.4442T>G ENSP00000494450.1:p.Phe1481Cys
ENST00000643562.1:c.*2564T>G ENSP00000496124.1:n.*2564T>G
ENST00000643925.1:c.3082T>G
ENST00000644057.1:n.601T>G
ENST00000644484.1:c.*3828T>G ENSP00000493558.1:n.*3828T>G
ENST00000644675.1:c.*2614T>G ENSP00000494567.1:n.*2614T>G
ENST00000644757.1:c.*3203-1389T>G ENSP00000495085.1:n.*3203-1389T>G
ENST00000644772.1:c.4508T>G ENSP00000494321.1:p.Phe1503Cys
ENST00000645004.1:n.2135T>G
ENST00000645076.1:c.3537T>G
ENST00000645417.1:c.1630T>G
ENST00000645744.1:c.*4127T>G ENSP00000494564.1:n.*4127T>G
ENST00000645760.1:c.4863T>G
ENST00000645884.1:c.*1725T>G ENSP00000495516.1:n.*1725T>G
ENST00000646003.1:c.*2464T>G ENSP00000495259.1:n.*2464T>G
ENST00000646207.1:c.*3279T>G ENSP00000495025.1:n.*3279T>G
ENST00000646276.1:c.*3846T>G ENSP00000496070.1:n.*3846T>G
ENST00000646592.1:c.3748T>G
ENST00000646902.1:c.4409T>G ENSP00000494101.1:p.Phe1470Cys
ENST00000646993.1:c.*2880T>G ENSP00000493720.1:n.*2880T>G
ENST00000647013.1:c.4448T>G ENSP00000496741.1:n.4448T>G
ENST00000647015.1:c.4193T>G ENSP00000495389.1:p.Phe1398Cys
ENST00000647086.1:c.*4028T>G ENSP00000493677.1:n.*4028T>G
ENST00000647158.1:c.*2729T>G ENSP00000495744.1:n.*2729T>G
ENST00000302539.8:c.4445T>G ENSP00000303960.4:p.Phe1482Cys
ENST00000389817.7:c.4442T>G ENSP00000374467.3:p.Phe1481Cys
ENST00000525022.1:n.337T>G
ENST00000526037.5:n.202T>G
ENST00000526168.5:c.230T>G
ENST00000531642.5:c.473T>G
NM_000352.4:c.4442T>G NP_000343.2:p.Phe1481Cys
NM_001287174.1:c.4445T>G NP_001274103.1:p.Phe1482Cys
XM_011520331.1:c.4442T>G XP_011518633.1:p.Phe1481Cys
XM_011520332.1:c.4341T>G XP_011518634.1:p.Phe1447Leu
XM_011520333.1:c.2942T>G XP_011518635.1:p.Phe981Cys
XR_930890.1:n.4404T>G
NM_001351295.1:c.4508T>G NP_001338224.1:p.Phe1503Cys
NM_001351296.1:c.4442T>G NP_001338225.1:p.Phe1481Cys
NM_001351297.1:c.4439T>G NP_001338226.1:p.Phe1480Cys
NR_147094.1:n.4737T>G
XM_017018197.2:c.4511T>G XP_016873686.1:p.Phe1504Cys
XM_017018199.1:c.4508T>G XP_016873688.1:p.Phe1503Cys
XM_017018201.2:c.4407T>G XP_016873690.1:p.Phe1469Leu
XM_017018202.1:c.3008T>G XP_016873691.1:p.Phe1003Cys
XM_017018204.1:c.2399T>G XP_016873693.1:p.Phe800Cys
XM_024448668.1:c.2810T>G XP_024304436.1:p.Phe937Cys
XR_001747945.2:n.4479T>G
XR_001747946.2:n.4410T>G
XR_002957189.1:n.6193T>G
NM_000352.6:c.4442T>G MANE Select NP_000343.2:p.Phe1481Cys
NM_001287174.2:c.4445T>G NP_001274103.1:p.Phe1482Cys
NM_001351295.2:c.4508T>G NP_001338224.1:p.Phe1503Cys
NM_001351296.2:c.4442T>G NP_001338225.1:p.Phe1481Cys
NM_001351297.2:c.4439T>G NP_001338226.1:p.Phe1480Cys
NR_147094.2:n.4737T>G
NM_001287174.3:c.4445T>G NP_001274103.1:p.Phe1482Cys