Canonical Allele Identifier: CA379790157
Community Standard Title: NM_000352.6(ABCC8):c.4117A>C (p.Lys1373Gln)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396918T>G , CM000673.2:g.17396918T>G GRCh38
NC_000011.9:g.17418465T>G , CM000673.1:g.17418465T>G GRCh37
NC_000011.8:g.17375041T>G NCBI36
NG_008867.1:g.84985A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4117A>C MANE Select NP_000343.2:p.Lys1373Gln
ENST00000389817.8:c.4117A>C MANE Select ENSP00000374467.4:p.Lys1373Gln
NM_000352.4:c.4117A>C NP_000343.2:p.Lys1373Gln
NM_001287174.1:c.4120A>C NP_001274103.1:p.Lys1374Gln
NM_001287174.2:c.4120A>C NP_001274103.1:p.Lys1374Gln
NM_001287174.3:c.4120A>C NP_001274103.1:p.Lys1374Gln
NM_001351295.1:c.4183A>C NP_001338224.1:p.Lys1395Gln
NM_001351295.2:c.4183A>C NP_001338224.1:p.Lys1395Gln
NM_001351296.1:c.4117A>C NP_001338225.1:p.Lys1373Gln
NM_001351296.2:c.4117A>C NP_001338225.1:p.Lys1373Gln
NM_001351297.1:c.4114A>C NP_001338226.1:p.Lys1372Gln
NM_001351297.2:c.4114A>C NP_001338226.1:p.Lys1372Gln
NR_147094.1:n.4412A>C
NR_147094.2:n.4412A>C
ENST00000302539.8:c.4120A>C ENSP00000303960.4:p.Lys1374Gln
ENST00000302539.9:c.4120A>C ENSP00000303960.4:p.Lys1374Gln
ENST00000389817.7:c.4117A>C ENSP00000374467.3:p.Lys1373Gln
ENST00000524561.2:n.3718A>C
ENST00000527905.5:c.*1139A>C ENSP00000431653.1:n.*1139A>C
ENST00000528374.1:c.599A>C
ENST00000528374.2:c.708A>C
ENST00000529967.6:n.2456A>C
ENST00000532220.1:n.591A>C
ENST00000532220.2:n.2365A>C
ENST00000642271.1:c.4114A>C ENSP00000493749.1:p.Lys1372Gln
ENST00000642579.1:c.2171A>C
ENST00000642611.1:n.4217A>C
ENST00000642611.2:n.4332A>C
ENST00000642902.1:c.3899A>C
ENST00000643260.1:c.4117A>C ENSP00000494450.1:p.Lys1373Gln
ENST00000643562.1:c.*2239A>C ENSP00000496124.1:n.*2239A>C
ENST00000643925.1:c.2757A>C
ENST00000644057.1:n.194A>C
ENST00000644057.2:n.560A>C
ENST00000644484.1:c.*2518A>C ENSP00000493558.1:n.*2518A>C
ENST00000644675.1:c.*2289A>C ENSP00000494567.1:n.*2289A>C
ENST00000644757.1:c.*2548A>C ENSP00000495085.1:n.*2548A>C
ENST00000644772.1:c.4183A>C ENSP00000494321.1:p.Lys1395Gln
ENST00000645004.1:n.1772A>C
ENST00000645004.2:n.1616A>C
ENST00000645076.1:c.3316A>C
ENST00000645417.1:c.1305A>C
ENST00000645744.1:c.*2897A>C ENSP00000494564.1:n.*2897A>C
ENST00000645760.1:c.4538A>C
ENST00000645884.1:c.*1400A>C ENSP00000495516.1:n.*1400A>C
ENST00000646003.1:c.*2219A>C ENSP00000495259.1:n.*2219A>C
ENST00000646207.1:c.*2954A>C ENSP00000495025.1:n.*2954A>C
ENST00000646276.1:c.*2536A>C ENSP00000496070.1:n.*2536A>C
ENST00000646592.1:c.3423A>C
ENST00000646902.1:c.4084A>C ENSP00000494101.1:p.Lys1362Gln
ENST00000646993.1:c.*2659A>C ENSP00000493720.1:n.*2659A>C
ENST00000647013.1:c.4123A>C ENSP00000496741.1:n.4123A>C
ENST00000647015.1:c.3868A>C ENSP00000495389.1:p.Lys1290Gln
ENST00000647086.1:c.*3703A>C ENSP00000493677.1:n.*3703A>C
ENST00000647158.1:c.*2404A>C ENSP00000495744.1:n.*2404A>C
ENST00000682051.1:n.4279A>C
ENST00000682110.1:n.4332A>C
ENST00000682140.1:c.3985+275A>C ENSP00000507829.1:n.3985+275A>C
ENST00000682185.1:n.5422A>C
ENST00000682204.1:c.*2255A>C ENSP00000507094.1:n.*2255A>C
ENST00000682215.1:n.4699A>C
ENST00000682288.1:c.*2548A>C ENSP00000507506.1:n.*2548A>C
ENST00000682442.1:n.4552A>C
ENST00000682528.1:n.4409A>C
ENST00000682673.1:n.4276A>C
ENST00000682805.1:n.4699A>C
ENST00000682965.1:c.*539A>C ENSP00000508229.1:n.*539A>C
ENST00000683093.1:n.4431A>C
ENST00000683136.1:c.4000A>C ENSP00000507768.1:p.Lys1334Gln
ENST00000683153.1:n.4374A>C
ENST00000683365.1:n.4434A>C
ENST00000683377.1:n.4332A>C
ENST00000683456.1:c.*1254A>C ENSP00000508318.1:n.*1254A>C
ENST00000683522.1:n.4332A>C
ENST00000683562.1:c.*2286A>C ENSP00000508265.1:n.*2286A>C
ENST00000683693.1:n.4779A>C
ENST00000683725.1:c.4117A>C ENSP00000507496.1:p.Lys1373Gln
ENST00000684010.1:n.4327A>C
ENST00000684157.1:n.4332A>C
ENST00000684253.1:n.4235A>C
ENST00000684288.1:c.*2289A>C ENSP00000507143.1:n.*2289A>C
ENST00000684313.1:n.3764A>C
ENST00000684332.1:n.4405A>C
ENST00000684371.1:n.4438A>C
ENST00000684404.1:n.4375A>C
ENST00000684442.1:n.4556A>C
ENST00000684555.1:c.*2329A>C ENSP00000507705.1:n.*2329A>C
ENST00000684571.1:c.3958A>C ENSP00000506935.1:p.Lys1320Gln
ENST00000684593.1:c.*3822A>C ENSP00000507005.1:n.*3822A>C
ENST00000684711.1:c.*2513A>C ENSP00000506841.1:n.*2513A>C
XM_011520331.1:c.4117A>C XP_011518633.1:p.Lys1373Gln
XM_011520332.1:c.4120A>C XP_011518634.1:p.Lys1374Gln
XM_011520333.1:c.2617A>C XP_011518635.1:p.Lys873Gln
XM_017018197.2:c.4186A>C XP_016873686.1:p.Lys1396Gln
XM_017018199.1:c.4183A>C XP_016873688.1:p.Lys1395Gln
XM_017018201.2:c.4186A>C XP_016873690.1:p.Lys1396Gln
XM_017018202.1:c.2683A>C XP_016873691.1:p.Lys895Gln
XM_017018204.1:c.2074A>C XP_016873693.1:p.Lys692Gln
XM_024448668.1:c.2485A>C XP_024304436.1:p.Lys829Gln
XR_001747945.2:n.4258A>C
XR_001747946.2:n.4189A>C
XR_002957189.1:n.4854A>C
XR_930890.1:n.4183A>C