Canonical Allele Identifier: CA1955127562
Community Standard Title: NM_000352.6(ABCC8):c.3542T= (p.Phe1181=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404527A= , CM000673.2:g.17404527A= GRCh38
NC_000011.9:g.17426074A= , CM000673.1:g.17426074A= GRCh37
NC_000011.8:g.17382650A= NCBI36
NG_008867.1:g.77376T=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3542T= MANE Select NP_000343.2:p.Phe1181=
ENST00000389817.8:c.3542T= MANE Select ENSP00000374467.4:p.Phe1181=
NM_000352.4:c.3542T= NP_000343.2:p.Phe1181=
NM_001287174.1:c.3545T= NP_001274103.1:p.Phe1182=
NM_001287174.2:c.3545T= NP_001274103.1:p.Phe1182=
NM_001287174.3:c.3545T= NP_001274103.1:p.Phe1182=
NM_001351295.1:c.3608T= NP_001338224.1:p.Phe1203=
NM_001351295.2:c.3608T= NP_001338224.1:p.Phe1203=
NM_001351296.1:c.3542T= NP_001338225.1:p.Phe1181=
NM_001351296.2:c.3542T= NP_001338225.1:p.Phe1181=
NM_001351297.1:c.3539T= NP_001338226.1:p.Phe1180=
NM_001351297.2:c.3539T= NP_001338226.1:p.Phe1180=
NR_147094.1:n.3691T=
NR_147094.2:n.3691T=
ENST00000302539.8:c.3545T= ENSP00000303960.4:p.Phe1182=
ENST00000302539.9:c.3545T= ENSP00000303960.4:p.Phe1182=
ENST00000389817.7:c.3542T= ENSP00000374467.3:p.Phe1181=
ENST00000524561.1:n.674T=
ENST00000524561.2:n.3111T=
ENST00000527905.5:c.*418T= ENSP00000431653.1:n.*418T=
ENST00000528374.1:c.12T=
ENST00000528374.2:c.121T=
ENST00000529967.6:n.1881T=
ENST00000531137.1:n.35T=
ENST00000532220.2:n.1274T=
ENST00000642271.1:c.3539T= ENSP00000493749.1:p.Phe1180=
ENST00000642579.1:c.1626T=
ENST00000642611.1:n.3496T=
ENST00000642611.2:n.3611T=
ENST00000642902.1:c.3324T=
ENST00000643260.1:c.3542T= ENSP00000494450.1:p.Phe1181=
ENST00000643562.1:c.*1518T= ENSP00000496124.1:n.*1518T=
ENST00000643925.1:c.1666T=
ENST00000644447.1:c.1898T= ENSP00000496282.1:p.Phe633=
ENST00000644484.1:c.*1797T= ENSP00000493558.1:n.*1797T=
ENST00000644675.1:c.*1714T= ENSP00000494567.1:n.*1714T=
ENST00000644757.1:c.*1827T= ENSP00000495085.1:n.*1827T=
ENST00000644772.1:c.3608T= ENSP00000494321.1:p.Phe1203=
ENST00000645004.1:n.681T=
ENST00000645004.2:n.1041T=
ENST00000645076.1:c.2741T=
ENST00000645417.1:c.708T=
ENST00000645744.1:c.*1806T= ENSP00000494564.1:n.*1806T=
ENST00000645760.1:c.3817T=
ENST00000645884.1:c.*679T= ENSP00000495516.1:n.*679T=
ENST00000646003.1:c.*1498T= ENSP00000495259.1:n.*1498T=
ENST00000646207.1:c.*2009T= ENSP00000495025.1:n.*2009T=
ENST00000646276.1:c.*1815T= ENSP00000496070.1:n.*1815T=
ENST00000646592.1:c.2848T=
ENST00000646902.1:c.3539T= ENSP00000494101.1:p.Phe1180=
ENST00000646993.1:c.*1938T= ENSP00000493720.1:n.*1938T=
ENST00000647013.1:c.3548T= ENSP00000496741.1:n.3548T=
ENST00000647015.1:c.3293T= ENSP00000495389.1:p.Phe1098=
ENST00000647086.1:c.*3272T= ENSP00000493677.1:n.*3272T=
ENST00000647158.1:c.*1683T= ENSP00000495744.1:n.*1683T=
ENST00000682051.1:n.3558T=
ENST00000682110.1:n.3611T=
ENST00000682140.1:c.3539T= ENSP00000507829.1:p.Phe1180=
ENST00000682185.1:n.4847T=
ENST00000682204.1:c.*1680T= ENSP00000507094.1:n.*1680T=
ENST00000682215.1:n.3608T=
ENST00000682288.1:c.*1973T= ENSP00000507506.1:n.*1973T=
ENST00000682442.1:n.3831T=
ENST00000682528.1:n.3688T=
ENST00000682673.1:n.3555T=
ENST00000682805.1:n.3608T=
ENST00000682965.1:c.3396+967T= ENSP00000508229.1:n.3396+967T=
ENST00000683093.1:n.3710T=
ENST00000683136.1:c.3539T= ENSP00000507768.1:p.Phe1180=
ENST00000683153.1:n.3767T=
ENST00000683365.1:n.3713T=
ENST00000683377.1:n.3611T=
ENST00000683456.1:c.*679T= ENSP00000508318.1:n.*679T=
ENST00000683522.1:n.3611T=
ENST00000683562.1:c.*1711T= ENSP00000508265.1:n.*1711T=
ENST00000683693.1:n.3688T=
ENST00000683725.1:c.3542T= ENSP00000507496.1:p.Phe1181=
ENST00000684010.1:n.3606T=
ENST00000684157.1:n.3611T=
ENST00000684253.1:n.3514T=
ENST00000684288.1:c.*1714T= ENSP00000507143.1:n.*1714T=
ENST00000684313.1:n.3043T=
ENST00000684332.1:n.3684T=
ENST00000684371.1:n.3717T=
ENST00000684404.1:n.3654T=
ENST00000684442.1:n.3611T=
ENST00000684555.1:c.*1754T= ENSP00000507705.1:n.*1754T=
ENST00000684571.1:c.3383T= ENSP00000506935.1:p.Phe1128=
ENST00000684593.1:c.*3247T= ENSP00000507005.1:n.*3247T=
ENST00000684711.1:c.*1938T= ENSP00000506841.1:n.*1938T=
XM_011520331.1:c.3542T= XP_011518633.1:p.Phe1181=
XM_011520332.1:c.3545T= XP_011518634.1:p.Phe1182=
XM_011520333.1:c.2042T= XP_011518635.1:p.Phe681=
XM_017018197.2:c.3611T= XP_016873686.1:p.Phe1204=
XM_017018199.1:c.3608T= XP_016873688.1:p.Phe1203=
XM_017018201.2:c.3611T= XP_016873690.1:p.Phe1204=
XM_017018202.1:c.2108T= XP_016873691.1:p.Phe703=
XM_017018204.1:c.1499T= XP_016873693.1:p.Phe500=
XM_024448668.1:c.1910T= XP_024304436.1:p.Phe637=
XR_001747945.2:n.3683T=
XR_001747946.2:n.3614T=
XR_002957189.1:n.3763T=
XR_930890.1:n.3608T=
XR_930892.1:n.3508T=
XR_930893.1:n.3505T=