Canonical Allele Identifier: CA5903060
Community Standard Title: NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17410544T>G , CM000673.2:g.17410544T>G GRCh38
NC_000011.9:g.17432091T>G , CM000673.1:g.17432091T>G GRCh37
NC_000011.8:g.17388667T>G NCBI36
NG_008867.1:g.71359A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.2666A>C MANE Select NP_000343.2:p.Lys889Thr
ENST00000389817.8:c.2666A>C MANE Select ENSP00000374467.4:p.Lys889Thr
NM_000352.4:c.2666A>C NP_000343.2:p.Lys889Thr
NM_001287174.1:c.2669A>C NP_001274103.1:p.Lys890Thr
NM_001287174.2:c.2669A>C NP_001274103.1:p.Lys890Thr
NM_001287174.3:c.2669A>C NP_001274103.1:p.Lys890Thr
NM_001351295.1:c.2732A>C NP_001338224.1:p.Lys911Thr
NM_001351295.2:c.2732A>C NP_001338224.1:p.Lys911Thr
NM_001351296.1:c.2666A>C NP_001338225.1:p.Lys889Thr
NM_001351296.2:c.2666A>C NP_001338225.1:p.Lys889Thr
NM_001351297.1:c.2663A>C NP_001338226.1:p.Lys888Thr
NM_001351297.2:c.2663A>C NP_001338226.1:p.Lys888Thr
NR_147094.1:n.2735A>C
NR_147094.2:n.2735A>C
ENST00000302539.8:c.2669A>C ENSP00000303960.4:p.Lys890Thr
ENST00000302539.9:c.2669A>C ENSP00000303960.4:p.Lys890Thr
ENST00000389817.7:c.2666A>C ENSP00000374467.3:p.Lys889Thr
ENST00000524561.2:n.2335A>C
ENST00000526921.5:n.350A>C
ENST00000527905.5:c.2636A>C ENSP00000431653.1:p.Lys879Thr
ENST00000529967.5:n.335A>C
ENST00000529967.6:n.925A>C
ENST00000530147.5:n.249A>C
ENST00000642271.1:c.2663A>C ENSP00000493749.1:p.Lys888Thr
ENST00000642579.1:c.750A>C
ENST00000642611.1:n.2620A>C
ENST00000642611.2:n.2735A>C
ENST00000642902.1:c.2501A>C
ENST00000643260.1:c.2666A>C ENSP00000494450.1:p.Lys889Thr
ENST00000643562.1:c.*642A>C ENSP00000496124.1:n.*642A>C
ENST00000643925.1:c.710A>C
ENST00000644447.1:c.1022A>C ENSP00000496282.1:p.Lys341Thr
ENST00000644472.1:c.*1027A>C ENSP00000495378.1:n.*1027A>C
ENST00000644484.1:c.*875A>C ENSP00000493558.1:n.*875A>C
ENST00000644542.1:c.*2371A>C ENSP00000495532.1:n.*2371A>C
ENST00000644675.1:c.*838A>C ENSP00000494567.1:n.*838A>C
ENST00000644757.1:c.*971A>C ENSP00000495085.1:n.*971A>C
ENST00000644772.1:c.2732A>C ENSP00000494321.1:p.Lys911Thr
ENST00000645076.1:c.1918A>C
ENST00000645744.1:c.*1030A>C ENSP00000494564.1:n.*1030A>C
ENST00000645760.1:c.2941A>C
ENST00000645884.1:c.2666A>C ENSP00000495516.1:p.Lys889Thr
ENST00000646003.1:c.*722A>C ENSP00000495259.1:n.*722A>C
ENST00000646207.1:c.*1030A>C ENSP00000495025.1:n.*1030A>C
ENST00000646276.1:c.*939A>C ENSP00000496070.1:n.*939A>C
ENST00000646592.1:c.1892A>C
ENST00000646902.1:c.2663A>C ENSP00000494101.1:p.Lys888Thr
ENST00000646993.1:c.*1062A>C ENSP00000493720.1:n.*1062A>C
ENST00000647013.1:c.2672A>C ENSP00000496741.1:n.2672A>C
ENST00000647015.1:c.2417A>C ENSP00000495389.1:p.Lys806Thr
ENST00000647086.1:c.*2396A>C ENSP00000493677.1:n.*2396A>C
ENST00000647158.1:c.*807A>C ENSP00000495744.1:n.*807A>C
ENST00000682051.1:n.2682A>C
ENST00000682110.1:n.2735A>C
ENST00000682140.1:c.2663A>C ENSP00000507829.1:p.Lys888Thr
ENST00000682185.1:n.3971A>C
ENST00000682204.1:c.*804A>C ENSP00000507094.1:n.*804A>C
ENST00000682215.1:n.2732A>C
ENST00000682288.1:c.*1097A>C ENSP00000507506.1:n.*1097A>C
ENST00000682442.1:n.2856A>C
ENST00000682528.1:n.2732A>C
ENST00000682673.1:n.2679A>C
ENST00000682805.1:n.2732A>C
ENST00000682965.1:c.2663A>C ENSP00000508229.1:p.Lys888Thr
ENST00000683093.1:n.2834A>C
ENST00000683136.1:c.2663A>C ENSP00000507768.1:p.Lys888Thr
ENST00000683153.1:n.2891A>C
ENST00000683365.1:n.2837A>C
ENST00000683377.1:n.2735A>C
ENST00000683456.1:c.2666A>C ENSP00000508318.1:p.Lys889Thr
ENST00000683522.1:n.2735A>C
ENST00000683562.1:c.*835A>C ENSP00000508265.1:n.*835A>C
ENST00000683693.1:n.2732A>C
ENST00000683725.1:c.2666A>C ENSP00000507496.1:p.Lys889Thr
ENST00000684010.1:n.2650A>C
ENST00000684157.1:n.2735A>C
ENST00000684253.1:n.2638A>C
ENST00000684288.1:c.*838A>C ENSP00000507143.1:n.*838A>C
ENST00000684313.1:n.2167A>C
ENST00000684332.1:n.2808A>C
ENST00000684371.1:n.2841A>C
ENST00000684404.1:n.2732A>C
ENST00000684442.1:n.2735A>C
ENST00000684555.1:c.*878A>C ENSP00000507705.1:n.*878A>C
ENST00000684571.1:c.2507A>C ENSP00000506935.1:p.Lys836Thr
ENST00000684593.1:c.*2371A>C ENSP00000507005.1:n.*2371A>C
ENST00000684711.1:c.*1062A>C ENSP00000506841.1:n.*1062A>C
XM_011520331.1:c.2666A>C XP_011518633.1:p.Lys889Thr
XM_011520332.1:c.2669A>C XP_011518634.1:p.Lys890Thr
XM_011520333.1:c.1166A>C XP_011518635.1:p.Lys389Thr
XM_011520334.1:c.2669A>C XP_011518636.1:p.Lys890Thr
XM_017018197.2:c.2735A>C XP_016873686.1:p.Lys912Thr
XM_017018199.1:c.2732A>C XP_016873688.1:p.Lys911Thr
XM_017018201.2:c.2735A>C XP_016873690.1:p.Lys912Thr
XM_017018202.1:c.1232A>C XP_016873691.1:p.Lys411Thr
XM_017018204.1:c.623A>C XP_016873693.1:p.Lys208Thr
XM_024448668.1:c.1034A>C XP_024304436.1:p.Lys345Thr
XR_001747945.2:n.2807A>C
XR_001747946.2:n.2738A>C
XR_002957189.1:n.2807A>C
XR_930890.1:n.2732A>C
XR_930891.1:n.2732A>C
XR_930892.1:n.2732A>C
XR_930893.1:n.2729A>C