Canonical Allele Identifier: CA1955132207
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414594C= , CM000673.2:g.17414594C= GRCh38
NC_000011.9:g.17436141C= , CM000673.1:g.17436141C= GRCh37
NC_000011.8:g.17392717C= NCBI36
NG_008867.1:g.67309G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1977G=
ENST00000529967.6:n.567G=
ENST00000642611.2:n.2377G=
ENST00000682051.1:n.2324G=
ENST00000682110.1:n.2377G=
ENST00000682140.1:c.2305G= ENSP00000507829.1:p.Ala769=
ENST00000682185.1:n.3613G=
ENST00000682204.1:c.*446G= ENSP00000507094.1:n.*446G=
ENST00000682215.1:n.2374G=
ENST00000682288.1:c.*739G= ENSP00000507506.1:n.*739G=
ENST00000682442.1:n.2498G=
ENST00000682528.1:n.2374G=
ENST00000682673.1:n.2321G=
ENST00000682805.1:n.2374G=
ENST00000682965.1:c.2305G= ENSP00000508229.1:p.Ala769=
ENST00000683093.1:n.2476G=
ENST00000683136.1:c.2305G= ENSP00000507768.1:p.Ala769=
ENST00000683153.1:n.2533G=
ENST00000683365.1:n.2479G=
ENST00000683377.1:n.2377G=
ENST00000683456.1:c.2308G= ENSP00000508318.1:p.Ala770=
ENST00000683522.1:n.2377G=
ENST00000683562.1:c.*477G= ENSP00000508265.1:n.*477G=
ENST00000683693.1:n.2374G=
ENST00000683725.1:c.2308G= ENSP00000507496.1:p.Ala770=
ENST00000684010.1:n.2377G=
ENST00000684157.1:n.2377G=
ENST00000684253.1:n.2280G=
ENST00000684288.1:c.*480G= ENSP00000507143.1:n.*480G=
ENST00000684313.1:n.1809G=
ENST00000684332.1:n.2450G=
ENST00000684371.1:n.2483G=
ENST00000684404.1:n.2374G=
ENST00000684442.1:n.2377G=
ENST00000684555.1:c.*520G= ENSP00000507705.1:n.*520G=
ENST00000684571.1:c.2149G= ENSP00000506935.1:p.Ala717=
ENST00000684593.1:c.*2013G= ENSP00000507005.1:n.*2013G=
ENST00000684711.1:c.*704G= ENSP00000506841.1:n.*704G=
ENST00000302539.9:c.2311G= ENSP00000303960.4:p.Ala771=
ENST00000389817.8:c.2308G= MANE Select ENSP00000374467.4:p.Ala770=
ENST00000642271.1:c.2305G= ENSP00000493749.1:p.Ala769=
ENST00000642579.1:c.392G=
ENST00000642611.1:n.2262G=
ENST00000642902.1:c.2143G=
ENST00000643260.1:c.2308G= ENSP00000494450.1:p.Ala770=
ENST00000643562.1:c.*284G= ENSP00000496124.1:n.*284G=
ENST00000643925.1:c.248G=
ENST00000644447.1:c.664G= ENSP00000496282.1:p.Ala222=
ENST00000644472.1:c.*669G= ENSP00000495378.1:n.*669G=
ENST00000644484.1:c.*517G= ENSP00000493558.1:n.*517G=
ENST00000644542.1:c.*2013G= ENSP00000495532.1:n.*2013G=
ENST00000644675.1:c.*480G= ENSP00000494567.1:n.*480G=
ENST00000644757.1:c.*613G= ENSP00000495085.1:n.*613G=
ENST00000644772.1:c.2374G= ENSP00000494321.1:p.Ala792=
ENST00000645076.1:c.1560G=
ENST00000645744.1:c.*672G= ENSP00000494564.1:n.*672G=
ENST00000645760.1:c.2583G=
ENST00000645884.1:c.2308G= ENSP00000495516.1:p.Ala770=
ENST00000646003.1:c.*449G= ENSP00000495259.1:n.*449G=
ENST00000646207.1:c.*672G= ENSP00000495025.1:n.*672G=
ENST00000646276.1:c.*581G= ENSP00000496070.1:n.*581G=
ENST00000646592.1:c.1534G=
ENST00000646902.1:c.2305G= ENSP00000494101.1:p.Ala769=
ENST00000646993.1:c.*704G= ENSP00000493720.1:n.*704G=
ENST00000647013.1:c.2314G= ENSP00000496741.1:n.2314G=
ENST00000647015.1:c.2059G= ENSP00000495389.1:p.Ala687=
ENST00000647086.1:c.*2038G= ENSP00000493677.1:n.*2038G=
ENST00000647158.1:c.*449G= ENSP00000495744.1:n.*449G=
ENST00000302539.8:c.2311G= ENSP00000303960.4:p.Ala771=
ENST00000389817.7:c.2308G= ENSP00000374467.3:p.Ala770=
ENST00000527905.5:c.2278G= ENSP00000431653.1:p.Ala760=
ENST00000531911.1:n.422G=
NM_000352.4:c.2308G= NP_000343.2:p.Ala770=
NM_001287174.1:c.2311G= NP_001274103.1:p.Ala771=
XM_011520331.1:c.2308G= XP_011518633.1:p.Ala770=
XM_011520332.1:c.2311G= XP_011518634.1:p.Ala771=
XM_011520333.1:c.808G= XP_011518635.1:p.Ala270=
XM_011520334.1:c.2311G= XP_011518636.1:p.Ala771=
XR_930890.1:n.2374G=
XR_930891.1:n.2374G=
XR_930892.1:n.2374G=
XR_930893.1:n.2371G=
NM_001351295.1:c.2374G= NP_001338224.1:p.Ala792=
NM_001351296.1:c.2308G= NP_001338225.1:p.Ala770=
NM_001351297.1:c.2305G= NP_001338226.1:p.Ala769=
NR_147094.1:n.2377G=
XM_017018197.2:c.2377G= XP_016873686.1:p.Ala793=
XM_017018199.1:c.2374G= XP_016873688.1:p.Ala792=
XM_017018201.2:c.2377G= XP_016873690.1:p.Ala793=
XM_017018202.1:c.874G= XP_016873691.1:p.Ala292=
XM_017018204.1:c.265G= XP_016873693.1:p.Ala89=
XM_024448668.1:c.676G= XP_024304436.1:p.Ala226=
XR_001747945.2:n.2449G=
XR_001747946.2:n.2380G=
XR_002957189.1:n.2449G=
NM_000352.6:c.2308G= MANE Select NP_000343.2:p.Ala770=
NM_001287174.2:c.2311G= NP_001274103.1:p.Ala771=
NM_001351295.2:c.2374G= NP_001338224.1:p.Ala792=
NM_001351296.2:c.2308G= NP_001338225.1:p.Ala770=
NM_001351297.2:c.2305G= NP_001338226.1:p.Ala769=
NR_147094.2:n.2377G=
NM_001287174.3:c.2311G= NP_001274103.1:p.Ala771=