Canonical Allele Identifier: CA1955127560
Community Standard Title: NM_000352.6(ABCC8):c.3545G= (p.Arg1182=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404524C= , CM000673.2:g.17404524C= GRCh38
NC_000011.9:g.17426071C= , CM000673.1:g.17426071C= GRCh37
NC_000011.8:g.17382647C= NCBI36
NG_008867.1:g.77379G=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3545G= MANE Select NP_000343.2:p.Arg1182=
ENST00000389817.8:c.3545G= MANE Select ENSP00000374467.4:p.Arg1182=
NM_000352.4:c.3545G= NP_000343.2:p.Arg1182=
NM_001287174.1:c.3548G= NP_001274103.1:p.Arg1183=
NM_001287174.2:c.3548G= NP_001274103.1:p.Arg1183=
NM_001287174.3:c.3548G= NP_001274103.1:p.Arg1183=
NM_001351295.1:c.3611G= NP_001338224.1:p.Arg1204=
NM_001351295.2:c.3611G= NP_001338224.1:p.Arg1204=
NM_001351296.1:c.3545G= NP_001338225.1:p.Arg1182=
NM_001351296.2:c.3545G= NP_001338225.1:p.Arg1182=
NM_001351297.1:c.3542G= NP_001338226.1:p.Arg1181=
NM_001351297.2:c.3542G= NP_001338226.1:p.Arg1181=
NR_147094.1:n.3694G=
NR_147094.2:n.3694G=
ENST00000302539.8:c.3548G= ENSP00000303960.4:p.Arg1183=
ENST00000302539.9:c.3548G= ENSP00000303960.4:p.Arg1183=
ENST00000389817.7:c.3545G= ENSP00000374467.3:p.Arg1182=
ENST00000524561.1:n.677G=
ENST00000524561.2:n.3114G=
ENST00000527905.5:c.*421G= ENSP00000431653.1:n.*421G=
ENST00000528374.1:c.15G=
ENST00000528374.2:c.124G=
ENST00000529967.6:n.1884G=
ENST00000531137.1:n.38G=
ENST00000532220.2:n.1277G=
ENST00000642271.1:c.3542G= ENSP00000493749.1:p.Arg1181=
ENST00000642579.1:c.1629G=
ENST00000642611.1:n.3499G=
ENST00000642611.2:n.3614G=
ENST00000642902.1:c.3327G=
ENST00000643260.1:c.3545G= ENSP00000494450.1:p.Arg1182=
ENST00000643562.1:c.*1521G= ENSP00000496124.1:n.*1521G=
ENST00000643925.1:c.1669G=
ENST00000644447.1:c.1901G= ENSP00000496282.1:p.Arg634=
ENST00000644484.1:c.*1800G= ENSP00000493558.1:n.*1800G=
ENST00000644675.1:c.*1717G= ENSP00000494567.1:n.*1717G=
ENST00000644757.1:c.*1830G= ENSP00000495085.1:n.*1830G=
ENST00000644772.1:c.3611G= ENSP00000494321.1:p.Arg1204=
ENST00000645004.1:n.684G=
ENST00000645004.2:n.1044G=
ENST00000645076.1:c.2744G=
ENST00000645417.1:c.711G=
ENST00000645744.1:c.*1809G= ENSP00000494564.1:n.*1809G=
ENST00000645760.1:c.3820G=
ENST00000645884.1:c.*682G= ENSP00000495516.1:n.*682G=
ENST00000646003.1:c.*1501G= ENSP00000495259.1:n.*1501G=
ENST00000646207.1:c.*2012G= ENSP00000495025.1:n.*2012G=
ENST00000646276.1:c.*1818G= ENSP00000496070.1:n.*1818G=
ENST00000646592.1:c.2851G=
ENST00000646902.1:c.3542G= ENSP00000494101.1:p.Arg1181=
ENST00000646993.1:c.*1941G= ENSP00000493720.1:n.*1941G=
ENST00000647013.1:c.3551G= ENSP00000496741.1:n.3551G=
ENST00000647015.1:c.3296G= ENSP00000495389.1:p.Arg1099=
ENST00000647086.1:c.*3275G= ENSP00000493677.1:n.*3275G=
ENST00000647158.1:c.*1686G= ENSP00000495744.1:n.*1686G=
ENST00000682051.1:n.3561G=
ENST00000682110.1:n.3614G=
ENST00000682140.1:c.3542G= ENSP00000507829.1:p.Arg1181=
ENST00000682185.1:n.4850G=
ENST00000682204.1:c.*1683G= ENSP00000507094.1:n.*1683G=
ENST00000682215.1:n.3611G=
ENST00000682288.1:c.*1976G= ENSP00000507506.1:n.*1976G=
ENST00000682442.1:n.3834G=
ENST00000682528.1:n.3691G=
ENST00000682673.1:n.3558G=
ENST00000682805.1:n.3611G=
ENST00000682965.1:c.3396+970G= ENSP00000508229.1:n.3396+970G=
ENST00000683093.1:n.3713G=
ENST00000683136.1:c.3542G= ENSP00000507768.1:p.Arg1181=
ENST00000683153.1:n.3770G=
ENST00000683365.1:n.3716G=
ENST00000683377.1:n.3614G=
ENST00000683456.1:c.*682G= ENSP00000508318.1:n.*682G=
ENST00000683522.1:n.3614G=
ENST00000683562.1:c.*1714G= ENSP00000508265.1:n.*1714G=
ENST00000683693.1:n.3691G=
ENST00000683725.1:c.3545G= ENSP00000507496.1:p.Arg1182=
ENST00000684010.1:n.3609G=
ENST00000684157.1:n.3614G=
ENST00000684253.1:n.3517G=
ENST00000684288.1:c.*1717G= ENSP00000507143.1:n.*1717G=
ENST00000684313.1:n.3046G=
ENST00000684332.1:n.3687G=
ENST00000684371.1:n.3720G=
ENST00000684404.1:n.3657G=
ENST00000684442.1:n.3614G=
ENST00000684555.1:c.*1757G= ENSP00000507705.1:n.*1757G=
ENST00000684571.1:c.3386G= ENSP00000506935.1:p.Arg1129=
ENST00000684593.1:c.*3250G= ENSP00000507005.1:n.*3250G=
ENST00000684711.1:c.*1941G= ENSP00000506841.1:n.*1941G=
XM_011520331.1:c.3545G= XP_011518633.1:p.Arg1182=
XM_011520332.1:c.3548G= XP_011518634.1:p.Arg1183=
XM_011520333.1:c.2045G= XP_011518635.1:p.Arg682=
XM_017018197.2:c.3614G= XP_016873686.1:p.Arg1205=
XM_017018199.1:c.3611G= XP_016873688.1:p.Arg1204=
XM_017018201.2:c.3614G= XP_016873690.1:p.Arg1205=
XM_017018202.1:c.2111G= XP_016873691.1:p.Arg704=
XM_017018204.1:c.1502G= XP_016873693.1:p.Arg501=
XM_024448668.1:c.1913G= XP_024304436.1:p.Arg638=
XR_001747945.2:n.3686G=
XR_001747946.2:n.3617G=
XR_002957189.1:n.3766G=
XR_930890.1:n.3611G=
XR_930892.1:n.3511G=
XR_930893.1:n.3508G=