Canonical Allele Identifier: CA218407548
Community Standard Title: NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395207A>C , CM000673.2:g.17395207A>C GRCh38
NC_000011.9:g.17416754A>C , CM000673.1:g.17416754A>C GRCh37
NC_000011.8:g.17373330A>C NCBI36
NG_008867.1:g.86696T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4376T>G MANE Select NP_000343.2:p.Leu1459Arg
ENST00000389817.8:c.4376T>G MANE Select ENSP00000374467.4:p.Leu1459Arg
NM_000352.4:c.4376T>G NP_000343.2:p.Leu1459Arg
NM_001287174.1:c.4379T>G NP_001274103.1:p.Leu1460Arg
NM_001287174.2:c.4379T>G NP_001274103.1:p.Leu1460Arg
NM_001287174.3:c.4379T>G NP_001274103.1:p.Leu1460Arg
NM_001351295.1:c.4442T>G NP_001338224.1:p.Leu1481Arg
NM_001351295.2:c.4442T>G NP_001338224.1:p.Leu1481Arg
NM_001351296.1:c.4376T>G NP_001338225.1:p.Leu1459Arg
NM_001351296.2:c.4376T>G NP_001338225.1:p.Leu1459Arg
NM_001351297.1:c.4373T>G NP_001338226.1:p.Leu1458Arg
NM_001351297.2:c.4373T>G NP_001338226.1:p.Leu1458Arg
NR_147094.1:n.4671T>G
NR_147094.2:n.4671T>G
ENST00000302539.8:c.4379T>G ENSP00000303960.4:p.Leu1460Arg
ENST00000302539.9:c.4379T>G ENSP00000303960.4:p.Leu1460Arg
ENST00000389817.7:c.4376T>G ENSP00000374467.3:p.Leu1459Arg
ENST00000524561.2:n.3977T>G
ENST00000525022.1:n.306+403T>G
ENST00000526037.5:n.171+403T>G
ENST00000526037.6:n.311T>G
ENST00000526168.5:c.164T>G
ENST00000528374.2:c.967T>G
ENST00000529967.6:n.2715T>G
ENST00000531642.5:c.407T>G
ENST00000532220.2:n.3609T>G
ENST00000642271.1:c.4373T>G ENSP00000493749.1:p.Leu1458Arg
ENST00000642579.1:c.2430T>G
ENST00000642611.1:n.5594T>G
ENST00000642611.2:n.5709T>G
ENST00000642902.1:c.4158T>G
ENST00000643260.1:c.4376T>G ENSP00000494450.1:p.Leu1459Arg
ENST00000643562.1:c.*2498T>G ENSP00000496124.1:n.*2498T>G
ENST00000643925.1:c.3016T>G
ENST00000644057.1:n.453T>G
ENST00000644057.2:n.952T>G
ENST00000644484.1:c.*3762T>G ENSP00000493558.1:n.*3762T>G
ENST00000644675.1:c.*2548T>G ENSP00000494567.1:n.*2548T>G
ENST00000644757.1:c.*3202+1057T>G ENSP00000495085.1:n.*3202+1057T>G
ENST00000644772.1:c.4442T>G ENSP00000494321.1:p.Leu1481Arg
ENST00000645004.1:n.2069T>G
ENST00000645004.2:n.1875T>G
ENST00000645076.1:c.3506+403T>G
ENST00000645417.1:c.1564T>G
ENST00000645744.1:c.*4061T>G ENSP00000494564.1:n.*4061T>G
ENST00000645760.1:c.4797T>G
ENST00000645884.1:c.*1659T>G ENSP00000495516.1:n.*1659T>G
ENST00000646003.1:c.*2398T>G ENSP00000495259.1:n.*2398T>G
ENST00000646207.1:c.*3213T>G ENSP00000495025.1:n.*3213T>G
ENST00000646276.1:c.*3780T>G ENSP00000496070.1:n.*3780T>G
ENST00000646592.1:c.3682T>G
ENST00000646902.1:c.4343T>G ENSP00000494101.1:p.Leu1448Arg
ENST00000646993.1:c.*2849+403T>G ENSP00000493720.1:n.*2849+403T>G
ENST00000647013.1:c.4382T>G ENSP00000496741.1:n.4382T>G
ENST00000647015.1:c.4127T>G ENSP00000495389.1:p.Leu1376Arg
ENST00000647086.1:c.*3962T>G ENSP00000493677.1:n.*3962T>G
ENST00000647158.1:c.*2663T>G ENSP00000495744.1:n.*2663T>G
ENST00000682051.1:n.4538T>G
ENST00000682110.1:n.4591T>G
ENST00000682140.1:c.*162T>G ENSP00000507829.1:n.*162T>G
ENST00000682185.1:n.5681T>G
ENST00000682204.1:c.*2514T>G ENSP00000507094.1:n.*2514T>G
ENST00000682215.1:n.4958T>G
ENST00000682288.1:c.*2807T>G ENSP00000507506.1:n.*2807T>G
ENST00000682442.1:n.4811T>G
ENST00000682528.1:n.4668T>G
ENST00000682673.1:n.4535T>G
ENST00000682805.1:n.4996T>G
ENST00000682965.1:c.*798T>G ENSP00000508229.1:n.*798T>G
ENST00000683093.1:n.5606+403T>G
ENST00000683136.1:c.4259T>G ENSP00000507768.1:p.Leu1420Arg
ENST00000683153.1:n.4633T>G
ENST00000683365.1:n.4693T>G
ENST00000683377.1:n.4522+403T>G
ENST00000683456.1:c.*1513T>G ENSP00000508318.1:n.*1513T>G
ENST00000683522.1:n.4591T>G
ENST00000683562.1:c.*2476+403T>G ENSP00000508265.1:n.*2476+403T>G
ENST00000683693.1:n.6087+403T>G
ENST00000683725.1:c.4307+403T>G ENSP00000507496.1:n.4307+403T>G
ENST00000684010.1:n.4586T>G
ENST00000684157.1:n.5576T>G
ENST00000684253.1:n.4494T>G
ENST00000684288.1:c.*2548T>G ENSP00000507143.1:n.*2548T>G
ENST00000684313.1:n.4023T>G
ENST00000684332.1:n.4664T>G
ENST00000684371.1:n.4697T>G
ENST00000684404.1:n.5619T>G
ENST00000684442.1:n.4815T>G
ENST00000684555.1:c.*2588T>G ENSP00000507705.1:n.*2588T>G
ENST00000684571.1:c.4217T>G ENSP00000506935.1:p.Leu1406Arg
ENST00000684593.1:c.*4081T>G ENSP00000507005.1:n.*4081T>G
ENST00000684711.1:c.*2772T>G ENSP00000506841.1:n.*2772T>G
XM_011520331.1:c.4376T>G XP_011518633.1:p.Leu1459Arg
XM_011520332.1:c.4310+403T>G XP_011518634.1:n.4310+403T>G
XM_011520333.1:c.2876T>G XP_011518635.1:p.Leu959Arg
XM_017018197.2:c.4445T>G XP_016873686.1:p.Leu1482Arg
XM_017018199.1:c.4442T>G XP_016873688.1:p.Leu1481Arg
XM_017018201.2:c.4376+403T>G XP_016873690.1:n.4376+403T>G
XM_017018202.1:c.2942T>G XP_016873691.1:p.Leu981Arg
XM_017018204.1:c.2333T>G XP_016873693.1:p.Leu778Arg
XM_024448668.1:c.2744T>G XP_024304436.1:p.Leu915Arg
XR_001747945.2:n.4448+403T>G
XR_001747946.2:n.4379+403T>G
XR_002957189.1:n.6162+403T>G
XR_930890.1:n.4373+403T>G