Canonical Allele Identifier: CA1955122574
Community Standard Title: NM_000352.6(ABCC8):c.4477C= (p.Arg1493=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394334G= , CM000673.2:g.17394334G= GRCh38
NC_000011.9:g.17415881G= , CM000673.1:g.17415881G= GRCh37
NC_000011.8:g.17372457G= NCBI36
NG_008867.1:g.87569C=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4477C= MANE Select NP_000343.2:p.Arg1493=
ENST00000389817.8:c.4477C= MANE Select ENSP00000374467.4:p.Arg1493=
NM_000352.4:c.4477C= NP_000343.2:p.Arg1493=
NM_001287174.1:c.4480C= NP_001274103.1:p.Arg1494=
NM_001287174.2:c.4480C= NP_001274103.1:p.Arg1494=
NM_001287174.3:c.4480C= NP_001274103.1:p.Arg1494=
NM_001351295.1:c.4543C= NP_001338224.1:p.Arg1515=
NM_001351295.2:c.4543C= NP_001338224.1:p.Arg1515=
NM_001351296.1:c.4477C= NP_001338225.1:p.Arg1493=
NM_001351296.2:c.4477C= NP_001338225.1:p.Arg1493=
NM_001351297.1:c.4474C= NP_001338226.1:p.Arg1492=
NM_001351297.2:c.4474C= NP_001338226.1:p.Arg1492=
NR_147094.1:n.4772C=
NR_147094.2:n.4772C=
ENST00000302539.8:c.4480C= ENSP00000303960.4:p.Arg1494=
ENST00000302539.9:c.4480C= ENSP00000303960.4:p.Arg1494=
ENST00000389817.7:c.4477C= ENSP00000374467.3:p.Arg1493=
ENST00000524561.2:n.4078C=
ENST00000525022.1:n.372C=
ENST00000526037.5:n.237C=
ENST00000526037.6:n.412C=
ENST00000526168.5:c.265C=
ENST00000528374.2:c.1068C=
ENST00000529967.6:n.2816C=
ENST00000531642.5:c.508C=
ENST00000532220.2:n.3710C=
ENST00000642271.1:c.4474C= ENSP00000493749.1:p.Arg1492=
ENST00000642579.1:c.2531C=
ENST00000642611.1:n.5695C=
ENST00000642611.2:n.5810C=
ENST00000642902.1:c.4259C=
ENST00000643260.1:c.4477C= ENSP00000494450.1:p.Arg1493=
ENST00000643562.1:c.*2599C= ENSP00000496124.1:n.*2599C=
ENST00000643925.1:c.3117C=
ENST00000644057.1:n.636C=
ENST00000644057.2:n.1053C=
ENST00000644484.1:c.*3863C= ENSP00000493558.1:n.*3863C=
ENST00000644675.1:c.*2649C= ENSP00000494567.1:n.*2649C=
ENST00000644757.1:c.*3203-1354C= ENSP00000495085.1:n.*3203-1354C=
ENST00000644772.1:c.4543C= ENSP00000494321.1:p.Arg1515=
ENST00000645004.1:n.2170C=
ENST00000645004.2:n.1976C=
ENST00000645076.1:c.3572C=
ENST00000645417.1:c.1665C=
ENST00000645744.1:c.*4162C= ENSP00000494564.1:n.*4162C=
ENST00000645760.1:c.4898C=
ENST00000645884.1:c.*1760C= ENSP00000495516.1:n.*1760C=
ENST00000646003.1:c.*2499C= ENSP00000495259.1:n.*2499C=
ENST00000646207.1:c.*3314C= ENSP00000495025.1:n.*3314C=
ENST00000646276.1:c.*3881C= ENSP00000496070.1:n.*3881C=
ENST00000646592.1:c.3783C=
ENST00000646902.1:c.4444C= ENSP00000494101.1:p.Arg1482=
ENST00000646993.1:c.*2915C= ENSP00000493720.1:n.*2915C=
ENST00000647013.1:c.4483C= ENSP00000496741.1:n.4483C=
ENST00000647015.1:c.4228C= ENSP00000495389.1:p.Arg1410=
ENST00000647086.1:c.*4063C= ENSP00000493677.1:n.*4063C=
ENST00000647158.1:c.*2764C= ENSP00000495744.1:n.*2764C=
ENST00000682051.1:n.4639C=
ENST00000682110.1:n.4692C=
ENST00000682140.1:c.*263C= ENSP00000507829.1:n.*263C=
ENST00000682185.1:n.5782C=
ENST00000682204.1:c.*2615C= ENSP00000507094.1:n.*2615C=
ENST00000682215.1:n.5059C=
ENST00000682288.1:c.*2908C= ENSP00000507506.1:n.*2908C=
ENST00000682442.1:n.4912C=
ENST00000682528.1:n.4769C=
ENST00000682673.1:n.4636C=
ENST00000682805.1:n.5097C=
ENST00000682965.1:c.*899C= ENSP00000508229.1:n.*899C=
ENST00000683093.1:n.5672C=
ENST00000683136.1:c.4360C= ENSP00000507768.1:p.Arg1454=
ENST00000683153.1:n.4734C=
ENST00000683365.1:n.4794C=
ENST00000683377.1:n.4588C=
ENST00000683456.1:c.*1614C= ENSP00000508318.1:n.*1614C=
ENST00000683522.1:n.4774C=
ENST00000683562.1:c.*2542C= ENSP00000508265.1:n.*2542C=
ENST00000683693.1:n.6153C=
ENST00000683725.1:c.4373C= ENSP00000507496.1:p.Pro1458=
ENST00000684010.1:n.4687C=
ENST00000684014.1:n.664C=
ENST00000684157.1:n.5677C=
ENST00000684253.1:n.4595C=
ENST00000684288.1:c.*2649C= ENSP00000507143.1:n.*2649C=
ENST00000684313.1:n.4124C=
ENST00000684332.1:n.4765C=
ENST00000684371.1:n.4798C=
ENST00000684404.1:n.5720C=
ENST00000684442.1:n.4916C=
ENST00000684555.1:c.*2689C= ENSP00000507705.1:n.*2689C=
ENST00000684571.1:c.4318C= ENSP00000506935.1:p.Arg1440=
ENST00000684593.1:c.*4182C= ENSP00000507005.1:n.*4182C=
ENST00000684711.1:c.*2873C= ENSP00000506841.1:n.*2873C=
XM_011520331.1:c.4477C= XP_011518633.1:p.Arg1493=
XM_011520332.1:c.4376C= XP_011518634.1:p.Pro1459=
XM_011520333.1:c.2977C= XP_011518635.1:p.Arg993=
XM_017018197.2:c.4546C= XP_016873686.1:p.Arg1516=
XM_017018199.1:c.4543C= XP_016873688.1:p.Arg1515=
XM_017018201.2:c.4442C= XP_016873690.1:p.Pro1481=
XM_017018202.1:c.3043C= XP_016873691.1:p.Arg1015=
XM_017018204.1:c.2434C= XP_016873693.1:p.Arg812=
XM_024448668.1:c.2845C= XP_024304436.1:p.Arg949=
XR_001747945.2:n.4514C=
XR_001747946.2:n.4445C=
XR_002957189.1:n.6228C=
XR_930890.1:n.4439C=