Canonical Allele Identifier: CA379787735
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395856G>C , CM000673.2:g.17395856G>C GRCh38
NC_000011.9:g.17417403G>C , CM000673.1:g.17417403G>C GRCh37
NC_000011.8:g.17373979G>C NCBI36
NG_008867.1:g.86047C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3795C>G
ENST00000528374.2:c.785C>G
ENST00000529967.6:n.2533C>G
ENST00000532220.2:n.3427C>G
ENST00000642611.2:n.5394C>G
ENST00000644057.2:n.637C>G
ENST00000645004.2:n.1693C>G
ENST00000682051.1:n.4356C>G
ENST00000682110.1:n.4409C>G
ENST00000682140.1:c.4060C>G ENSP00000507829.1:p.Arg1354Gly
ENST00000682185.1:n.5499C>G
ENST00000682204.1:c.*2332C>G ENSP00000507094.1:n.*2332C>G
ENST00000682215.1:n.4776C>G
ENST00000682288.1:c.*2625C>G ENSP00000507506.1:n.*2625C>G
ENST00000682442.1:n.4629C>G
ENST00000682528.1:n.4486C>G
ENST00000682673.1:n.4353C>G
ENST00000682805.1:n.4814C>G
ENST00000682965.1:c.*616C>G ENSP00000508229.1:n.*616C>G
ENST00000683093.1:n.5493C>G
ENST00000683136.1:c.4077C>G ENSP00000507768.1:p.Phe1359Leu
ENST00000683153.1:n.4451C>G
ENST00000683365.1:n.4511C>G
ENST00000683377.1:n.4409C>G
ENST00000683456.1:c.*1331C>G ENSP00000508318.1:n.*1331C>G
ENST00000683522.1:n.4409C>G
ENST00000683562.1:c.*2363C>G ENSP00000508265.1:n.*2363C>G
ENST00000683693.1:n.5841C>G
ENST00000683725.1:c.4194C>G ENSP00000507496.1:p.Phe1398Leu
ENST00000684010.1:n.4404C>G
ENST00000684157.1:n.5394C>G
ENST00000684253.1:n.4312C>G
ENST00000684288.1:c.*2366C>G ENSP00000507143.1:n.*2366C>G
ENST00000684313.1:n.3841C>G
ENST00000684332.1:n.4482C>G
ENST00000684371.1:n.4515C>G
ENST00000684404.1:n.5437C>G
ENST00000684442.1:n.4633C>G
ENST00000684555.1:c.*2406C>G ENSP00000507705.1:n.*2406C>G
ENST00000684571.1:c.4035C>G ENSP00000506935.1:p.Phe1345Leu
ENST00000684593.1:c.*3899C>G ENSP00000507005.1:n.*3899C>G
ENST00000684711.1:c.*2590C>G ENSP00000506841.1:n.*2590C>G
ENST00000302539.9:c.4197C>G ENSP00000303960.4:p.Phe1399Leu
ENST00000389817.8:c.4194C>G MANE Select ENSP00000374467.4:p.Phe1398Leu
ENST00000642271.1:c.4191C>G ENSP00000493749.1:p.Phe1397Leu
ENST00000642579.1:c.2248C>G
ENST00000642611.1:n.5279C>G
ENST00000642902.1:c.3976C>G
ENST00000643260.1:c.4194C>G ENSP00000494450.1:p.Phe1398Leu
ENST00000643562.1:c.*2316C>G ENSP00000496124.1:n.*2316C>G
ENST00000643925.1:c.2834C>G
ENST00000644057.1:n.271C>G
ENST00000644484.1:c.*3580C>G ENSP00000493558.1:n.*3580C>G
ENST00000644675.1:c.*2366C>G ENSP00000494567.1:n.*2366C>G
ENST00000644757.1:c.*3202+408C>G ENSP00000495085.1:n.*3202+408C>G
ENST00000644772.1:c.4260C>G ENSP00000494321.1:p.Phe1420Leu
ENST00000645004.1:n.1887C>G
ENST00000645076.1:c.3393C>G
ENST00000645417.1:c.1382C>G
ENST00000645744.1:c.*3959C>G ENSP00000494564.1:n.*3959C>G
ENST00000645760.1:c.4615C>G
ENST00000645884.1:c.*1477C>G ENSP00000495516.1:n.*1477C>G
ENST00000646003.1:c.*2296C>G ENSP00000495259.1:n.*2296C>G
ENST00000646207.1:c.*3031C>G ENSP00000495025.1:n.*3031C>G
ENST00000646276.1:c.*3598C>G ENSP00000496070.1:n.*3598C>G
ENST00000646592.1:c.3500C>G
ENST00000646902.1:c.4161C>G ENSP00000494101.1:p.Phe1387Leu
ENST00000646993.1:c.*2736C>G ENSP00000493720.1:n.*2736C>G
ENST00000647013.1:c.4200C>G ENSP00000496741.1:n.4200C>G
ENST00000647015.1:c.3945C>G ENSP00000495389.1:p.Phe1315Leu
ENST00000647086.1:c.*3780C>G ENSP00000493677.1:n.*3780C>G
ENST00000647158.1:c.*2481C>G ENSP00000495744.1:n.*2481C>G
ENST00000302539.8:c.4197C>G ENSP00000303960.4:p.Phe1399Leu
ENST00000389817.7:c.4194C>G ENSP00000374467.3:p.Phe1398Leu
ENST00000525022.1:n.60C>G
ENST00000526168.5:c.62C>G
ENST00000531642.5:c.30C>G
NM_000352.4:c.4194C>G NP_000343.2:p.Phe1398Leu
NM_001287174.1:c.4197C>G NP_001274103.1:p.Phe1399Leu
XM_011520331.1:c.4194C>G XP_011518633.1:p.Phe1398Leu
XM_011520332.1:c.4197C>G XP_011518634.1:p.Phe1399Leu
XM_011520333.1:c.2694C>G XP_011518635.1:p.Phe898Leu
XR_930890.1:n.4260C>G
NM_001351295.1:c.4260C>G NP_001338224.1:p.Phe1420Leu
NM_001351296.1:c.4194C>G NP_001338225.1:p.Phe1398Leu
NM_001351297.1:c.4191C>G NP_001338226.1:p.Phe1397Leu
NR_147094.1:n.4489C>G
XM_017018197.2:c.4263C>G XP_016873686.1:p.Phe1421Leu
XM_017018199.1:c.4260C>G XP_016873688.1:p.Phe1420Leu
XM_017018201.2:c.4263C>G XP_016873690.1:p.Phe1421Leu
XM_017018202.1:c.2760C>G XP_016873691.1:p.Phe920Leu
XM_017018204.1:c.2151C>G XP_016873693.1:p.Phe717Leu
XM_024448668.1:c.2562C>G XP_024304436.1:p.Phe854Leu
XR_001747945.2:n.4335C>G
XR_001747946.2:n.4266C>G
XR_002957189.1:n.5916C>G
NM_000352.6:c.4194C>G MANE Select NP_000343.2:p.Phe1398Leu
NM_001287174.2:c.4197C>G NP_001274103.1:p.Phe1399Leu
NM_001351295.2:c.4260C>G NP_001338224.1:p.Phe1420Leu
NM_001351296.2:c.4194C>G NP_001338225.1:p.Phe1398Leu
NM_001351297.2:c.4191C>G NP_001338226.1:p.Phe1397Leu
NR_147094.2:n.4489C>G
NM_001287174.3:c.4197C>G NP_001274103.1:p.Phe1399Leu