Canonical Allele Identifier: CA1955126693
Community Standard Title: NM_000352.6(ABCC8):c.3640C= (p.Arg1214=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17402671G= , CM000673.2:g.17402671G= GRCh38
NC_000011.9:g.17424218G= , CM000673.1:g.17424218G= GRCh37
NC_000011.8:g.17380794G= NCBI36
NG_008867.1:g.79232C=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3640C= MANE Select NP_000343.2:p.Arg1214=
ENST00000389817.8:c.3640C= MANE Select ENSP00000374467.4:p.Arg1214=
NM_000352.4:c.3640C= NP_000343.2:p.Arg1214=
NM_001287174.1:c.3643C= NP_001274103.1:p.Arg1215=
NM_001287174.2:c.3643C= NP_001274103.1:p.Arg1215=
NM_001287174.3:c.3643C= NP_001274103.1:p.Arg1215=
NM_001351295.1:c.3706C= NP_001338224.1:p.Arg1236=
NM_001351295.2:c.3706C= NP_001338224.1:p.Arg1236=
NM_001351296.1:c.3640C= NP_001338225.1:p.Arg1214=
NM_001351296.2:c.3640C= NP_001338225.1:p.Arg1214=
NM_001351297.1:c.3637C= NP_001338226.1:p.Arg1213=
NM_001351297.2:c.3637C= NP_001338226.1:p.Arg1213=
NR_147094.1:n.3789C=
NR_147094.2:n.3789C=
ENST00000302539.8:c.3643C= ENSP00000303960.4:p.Arg1215=
ENST00000302539.9:c.3643C= ENSP00000303960.4:p.Arg1215=
ENST00000389817.7:c.3640C= ENSP00000374467.3:p.Arg1214=
ENST00000524561.2:n.3209C=
ENST00000527905.5:c.*516C= ENSP00000431653.1:n.*516C=
ENST00000528374.1:c.110C=
ENST00000528374.2:c.219C=
ENST00000529967.6:n.1979C=
ENST00000531137.1:n.133C=
ENST00000531891.1:c.8C=
ENST00000532220.2:n.1372C=
ENST00000642271.1:c.3637C= ENSP00000493749.1:p.Arg1213=
ENST00000642579.1:c.1724C=
ENST00000642611.1:n.3594C=
ENST00000642611.2:n.3709C=
ENST00000642902.1:c.3422C=
ENST00000643260.1:c.3640C= ENSP00000494450.1:p.Arg1214=
ENST00000643562.1:c.*1616C= ENSP00000496124.1:n.*1616C=
ENST00000643925.1:c.1764C=
ENST00000644057.2:n.83C=
ENST00000644447.1:c.1996C= ENSP00000496282.1:p.Arg666=
ENST00000644484.1:c.*1895C= ENSP00000493558.1:n.*1895C=
ENST00000644675.1:c.*1812C= ENSP00000494567.1:n.*1812C=
ENST00000644757.1:c.*1925C= ENSP00000495085.1:n.*1925C=
ENST00000644772.1:c.3706C= ENSP00000494321.1:p.Arg1236=
ENST00000645004.1:n.779C=
ENST00000645004.2:n.1139C=
ENST00000645076.1:c.2839C=
ENST00000645417.1:c.806C=
ENST00000645744.1:c.*1904C= ENSP00000494564.1:n.*1904C=
ENST00000645760.1:c.3915C=
ENST00000645884.1:c.*777C= ENSP00000495516.1:n.*777C=
ENST00000646003.1:c.*1596C= ENSP00000495259.1:n.*1596C=
ENST00000646207.1:c.*2107C= ENSP00000495025.1:n.*2107C=
ENST00000646276.1:c.*1913C= ENSP00000496070.1:n.*1913C=
ENST00000646592.1:c.2946C=
ENST00000646902.1:c.3637C= ENSP00000494101.1:p.Arg1213=
ENST00000646993.1:c.*2036C= ENSP00000493720.1:n.*2036C=
ENST00000647013.1:c.3646C= ENSP00000496741.1:n.3646C=
ENST00000647015.1:c.3391C= ENSP00000495389.1:p.Arg1131=
ENST00000647086.1:c.*3370C= ENSP00000493677.1:n.*3370C=
ENST00000647158.1:c.*1781C= ENSP00000495744.1:n.*1781C=
ENST00000682051.1:n.3656C=
ENST00000682110.1:n.3709C=
ENST00000682140.1:c.3637C= ENSP00000507829.1:p.Arg1213=
ENST00000682185.1:n.4945C=
ENST00000682204.1:c.*1778C= ENSP00000507094.1:n.*1778C=
ENST00000682215.1:n.3706C=
ENST00000682288.1:c.*2071C= ENSP00000507506.1:n.*2071C=
ENST00000682442.1:n.3929C=
ENST00000682528.1:n.3786C=
ENST00000682673.1:n.3653C=
ENST00000682805.1:n.3706C=
ENST00000682965.1:c.*62C= ENSP00000508229.1:n.*62C=
ENST00000683093.1:n.3808C=
ENST00000683136.1:c.3637C= ENSP00000507768.1:p.Arg1213=
ENST00000683153.1:n.3865C=
ENST00000683365.1:n.3811C=
ENST00000683377.1:n.3709C=
ENST00000683456.1:c.*777C= ENSP00000508318.1:n.*777C=
ENST00000683522.1:n.3709C=
ENST00000683562.1:c.*1809C= ENSP00000508265.1:n.*1809C=
ENST00000683693.1:n.3786C=
ENST00000683725.1:c.3640C= ENSP00000507496.1:p.Arg1214=
ENST00000684010.1:n.3704C=
ENST00000684157.1:n.3709C=
ENST00000684253.1:n.3612C=
ENST00000684288.1:c.*1812C= ENSP00000507143.1:n.*1812C=
ENST00000684313.1:n.3141C=
ENST00000684332.1:n.3782C=
ENST00000684371.1:n.3815C=
ENST00000684404.1:n.3752C=
ENST00000684442.1:n.3709C=
ENST00000684555.1:c.*1852C= ENSP00000507705.1:n.*1852C=
ENST00000684571.1:c.3481C= ENSP00000506935.1:p.Arg1161=
ENST00000684593.1:c.*3345C= ENSP00000507005.1:n.*3345C=
ENST00000684711.1:c.*2036C= ENSP00000506841.1:n.*2036C=
XM_011520331.1:c.3640C= XP_011518633.1:p.Arg1214=
XM_011520332.1:c.3643C= XP_011518634.1:p.Arg1215=
XM_011520333.1:c.2140C= XP_011518635.1:p.Arg714=
XM_017018197.2:c.3709C= XP_016873686.1:p.Arg1237=
XM_017018199.1:c.3706C= XP_016873688.1:p.Arg1236=
XM_017018201.2:c.3709C= XP_016873690.1:p.Arg1237=
XM_017018202.1:c.2206C= XP_016873691.1:p.Arg736=
XM_017018204.1:c.1597C= XP_016873693.1:p.Arg533=
XM_024448668.1:c.2008C= XP_024304436.1:p.Arg670=
XR_001747945.2:n.3781C=
XR_001747946.2:n.3712C=
XR_002957189.1:n.3861C=
XR_930890.1:n.3706C=
XR_930892.1:n.3606C=
XR_930893.1:n.3603C=