Canonical Allele Identifier: CA1955124623
Community Standard Title: NM_000352.6(ABCC8):c.3748C= (p.Arg1250=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17398344G= , CM000673.2:g.17398344G= GRCh38
NC_000011.9:g.17419891G= , CM000673.1:g.17419891G= GRCh37
NC_000011.8:g.17376467G= NCBI36
NG_008867.1:g.83559C=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3748C= MANE Select NP_000343.2:p.Arg1250=
ENST00000389817.8:c.3748C= MANE Select ENSP00000374467.4:p.Arg1250=
NM_000352.4:c.3748C= NP_000343.2:p.Arg1250=
NM_001287174.1:c.3751C= NP_001274103.1:p.Arg1251=
NM_001287174.2:c.3751C= NP_001274103.1:p.Arg1251=
NM_001287174.3:c.3751C= NP_001274103.1:p.Arg1251=
NM_001351295.1:c.3814C= NP_001338224.1:p.Arg1272=
NM_001351295.2:c.3814C= NP_001338224.1:p.Arg1272=
NM_001351296.1:c.3748C= NP_001338225.1:p.Arg1250=
NM_001351296.2:c.3748C= NP_001338225.1:p.Arg1250=
NM_001351297.1:c.3745C= NP_001338226.1:p.Arg1249=
NM_001351297.2:c.3745C= NP_001338226.1:p.Arg1249=
NR_147094.1:n.3897C=
NR_147094.2:n.3897C=
ENST00000302539.8:c.3751C= ENSP00000303960.4:p.Arg1251=
ENST00000302539.9:c.3751C= ENSP00000303960.4:p.Arg1251=
ENST00000389817.7:c.3748C= ENSP00000374467.3:p.Arg1250=
ENST00000524561.2:n.3317C=
ENST00000527905.5:c.*624C= ENSP00000431653.1:n.*624C=
ENST00000528374.1:c.218C=
ENST00000528374.2:c.327C=
ENST00000529967.6:n.2087C=
ENST00000531137.1:n.167C=
ENST00000531891.1:c.116C=
ENST00000532220.2:n.1480C=
ENST00000642271.1:c.3745C= ENSP00000493749.1:p.Arg1249=
ENST00000642579.1:c.1832C=
ENST00000642611.1:n.3702C=
ENST00000642611.2:n.3817C=
ENST00000642902.1:c.3530C=
ENST00000643260.1:c.3748C= ENSP00000494450.1:p.Arg1250=
ENST00000643562.1:c.*1724C= ENSP00000496124.1:n.*1724C=
ENST00000643925.1:c.1872C=
ENST00000644057.2:n.191C=
ENST00000644447.1:c.2199C= ENSP00000496282.1:n.2199C=
ENST00000644484.1:c.*2003C= ENSP00000493558.1:n.*2003C=
ENST00000644675.1:c.*1920C= ENSP00000494567.1:n.*1920C=
ENST00000644757.1:c.*2033C= ENSP00000495085.1:n.*2033C=
ENST00000644772.1:c.3814C= ENSP00000494321.1:p.Arg1272=
ENST00000645004.1:n.887C=
ENST00000645004.2:n.1247C=
ENST00000645076.1:c.2947C=
ENST00000645417.1:c.936C=
ENST00000645744.1:c.*2012C= ENSP00000494564.1:n.*2012C=
ENST00000645760.1:c.4023C=
ENST00000645884.1:c.*885C= ENSP00000495516.1:n.*885C=
ENST00000646003.1:c.*1704C= ENSP00000495259.1:n.*1704C=
ENST00000646207.1:c.*2215C= ENSP00000495025.1:n.*2215C=
ENST00000646276.1:c.*2021C= ENSP00000496070.1:n.*2021C=
ENST00000646592.1:c.3054C=
ENST00000646902.1:c.3745C= ENSP00000494101.1:p.Arg1249=
ENST00000646993.1:c.*2144C= ENSP00000493720.1:n.*2144C=
ENST00000647013.1:c.3754C= ENSP00000496741.1:n.3754C=
ENST00000647015.1:c.3499C= ENSP00000495389.1:p.Arg1167=
ENST00000647086.1:c.*3478C= ENSP00000493677.1:n.*3478C=
ENST00000647158.1:c.*1889C= ENSP00000495744.1:n.*1889C=
ENST00000682051.1:n.3764C=
ENST00000682110.1:n.3817C=
ENST00000682140.1:c.3745C= ENSP00000507829.1:p.Arg1249=
ENST00000682185.1:n.5053C=
ENST00000682204.1:c.*1886C= ENSP00000507094.1:n.*1886C=
ENST00000682215.1:n.3814C=
ENST00000682288.1:c.*2179C= ENSP00000507506.1:n.*2179C=
ENST00000682442.1:n.4037C=
ENST00000682528.1:n.3894C=
ENST00000682673.1:n.3761C=
ENST00000682805.1:n.3814C=
ENST00000682965.1:c.*170C= ENSP00000508229.1:n.*170C=
ENST00000683093.1:n.3916C=
ENST00000683136.1:c.3745C= ENSP00000507768.1:p.Arg1249=
ENST00000683153.1:n.3973C=
ENST00000683365.1:n.3919C=
ENST00000683377.1:n.3817C=
ENST00000683456.1:c.*885C= ENSP00000508318.1:n.*885C=
ENST00000683522.1:n.3817C=
ENST00000683562.1:c.*1917C= ENSP00000508265.1:n.*1917C=
ENST00000683693.1:n.3894C=
ENST00000683725.1:c.3748C= ENSP00000507496.1:p.Arg1250=
ENST00000684010.1:n.3812C=
ENST00000684157.1:n.3817C=
ENST00000684253.1:n.3720C=
ENST00000684288.1:c.*1920C= ENSP00000507143.1:n.*1920C=
ENST00000684313.1:n.3249C=
ENST00000684332.1:n.3890C=
ENST00000684371.1:n.3923C=
ENST00000684404.1:n.3860C=
ENST00000684442.1:n.3817C=
ENST00000684555.1:c.*1960C= ENSP00000507705.1:n.*1960C=
ENST00000684571.1:c.3589C= ENSP00000506935.1:p.Arg1197=
ENST00000684593.1:c.*3453C= ENSP00000507005.1:n.*3453C=
ENST00000684711.1:c.*2144C= ENSP00000506841.1:n.*2144C=
XM_011520331.1:c.3748C= XP_011518633.1:p.Arg1250=
XM_011520332.1:c.3751C= XP_011518634.1:p.Arg1251=
XM_011520333.1:c.2248C= XP_011518635.1:p.Arg750=
XM_017018197.2:c.3817C= XP_016873686.1:p.Arg1273=
XM_017018199.1:c.3814C= XP_016873688.1:p.Arg1272=
XM_017018201.2:c.3817C= XP_016873690.1:p.Arg1273=
XM_017018202.1:c.2314C= XP_016873691.1:p.Arg772=
XM_017018204.1:c.1705C= XP_016873693.1:p.Arg569=
XM_024448668.1:c.2116C= XP_024304436.1:p.Arg706=
XR_001747945.2:n.3889C=
XR_001747946.2:n.3820C=
XR_002957189.1:n.3969C=
XR_930890.1:n.3814C=
XR_930892.1:n.3714C=
XR_930893.1:n.3711C=