Canonical Allele Identifier: CA218422815
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs190395695
gnomAD v2: 11-17428424-G-T
gnomAD v3: 11-17406877-G-T
gnomAD v4: 11-17406877-G-T
MyVariant Identifiers: chr11:g.17428424G>T (hg19) chr11:g.17406877G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406877G>T , CM000673.2:g.17406877G>T GRCh38
NC_000011.9:g.17428424G>T , CM000673.1:g.17428424G>T GRCh37
NC_000011.8:g.17385000G>T NCBI36
NG_008867.1:g.75026C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.2731+11C>A
ENST00000529967.6:n.1501+11C>A
ENST00000532220.2:n.894+11C>A
ENST00000642611.2:n.3231+11C>A
ENST00000645004.2:n.661+11C>A
ENST00000682051.1:n.3178+11C>A
ENST00000682110.1:n.3231+11C>A
ENST00000682140.1:c.3159+11C>A ENSP00000507829.1:n.3159+11C>A
ENST00000682185.1:n.4467+11C>A
ENST00000682204.1:c.*1300+11C>A ENSP00000507094.1:n.*1300+11C>A
ENST00000682215.1:n.3228+11C>A
ENST00000682288.1:c.*1593+11C>A ENSP00000507506.1:n.*1593+11C>A
ENST00000682442.1:n.3363C>A
ENST00000682528.1:n.3308+11C>A
ENST00000682673.1:n.3175+11C>A
ENST00000682805.1:n.3228+11C>A
ENST00000682965.1:c.3159+11C>A ENSP00000508229.1:n.3159+11C>A
ENST00000683093.1:n.3330+11C>A
ENST00000683136.1:c.3159+11C>A ENSP00000507768.1:n.3159+11C>A
ENST00000683153.1:n.3387+11C>A
ENST00000683365.1:n.3333+11C>A
ENST00000683377.1:n.3231+11C>A
ENST00000683456.1:c.*299+11C>A ENSP00000508318.1:n.*299+11C>A
ENST00000683522.1:n.3231+11C>A
ENST00000683562.1:c.*1331+11C>A ENSP00000508265.1:n.*1331+11C>A
ENST00000683693.1:n.3308+11C>A
ENST00000683725.1:c.3162+11C>A ENSP00000507496.1:n.3162+11C>A
ENST00000684010.1:n.3226+11C>A
ENST00000684157.1:n.3231+11C>A
ENST00000684253.1:n.3134+11C>A
ENST00000684288.1:c.*1334+11C>A ENSP00000507143.1:n.*1334+11C>A
ENST00000684313.1:n.2663+11C>A
ENST00000684332.1:n.3304+11C>A
ENST00000684371.1:n.3337+11C>A
ENST00000684404.1:n.3274+11C>A
ENST00000684442.1:n.3231+11C>A
ENST00000684555.1:c.*1374+11C>A ENSP00000507705.1:n.*1374+11C>A
ENST00000684571.1:c.3003+11C>A ENSP00000506935.1:n.3003+11C>A
ENST00000684593.1:c.*2867+11C>A ENSP00000507005.1:n.*2867+11C>A
ENST00000684711.1:c.*1558+11C>A ENSP00000506841.1:n.*1558+11C>A
ENST00000302539.9:c.3165+11C>A ENSP00000303960.4:n.3165+11C>A
ENST00000389817.8:c.3162+11C>A MANE Select ENSP00000374467.4:n.3162+11C>A
ENST00000642271.1:c.3159+11C>A ENSP00000493749.1:n.3159+11C>A
ENST00000642579.1:c.1246+11C>A
ENST00000642611.1:n.3116+11C>A
ENST00000642902.1:c.2944+11C>A
ENST00000643260.1:c.3162+11C>A ENSP00000494450.1:n.3162+11C>A
ENST00000643562.1:c.*1138+11C>A ENSP00000496124.1:n.*1138+11C>A
ENST00000643925.1:c.1286+11C>A
ENST00000644447.1:c.1518+11C>A ENSP00000496282.1:n.1518+11C>A
ENST00000644484.1:c.*1417+11C>A ENSP00000493558.1:n.*1417+11C>A
ENST00000644542.1:c.*2878C>A ENSP00000495532.1:n.*2878C>A
ENST00000644675.1:c.*1334+11C>A ENSP00000494567.1:n.*1334+11C>A
ENST00000644757.1:c.*1447+11C>A ENSP00000495085.1:n.*1447+11C>A
ENST00000644772.1:c.3228+11C>A ENSP00000494321.1:n.3228+11C>A
ENST00000645004.1:n.301+11C>A
ENST00000645076.1:c.2361+11C>A
ENST00000645417.1:c.328+11C>A
ENST00000645744.1:c.*1426+11C>A ENSP00000494564.1:n.*1426+11C>A
ENST00000645760.1:c.3437+11C>A
ENST00000645884.1:c.*299+11C>A ENSP00000495516.1:n.*299+11C>A
ENST00000646003.1:c.*1118+11C>A ENSP00000495259.1:n.*1118+11C>A
ENST00000646207.1:c.*1629+11C>A ENSP00000495025.1:n.*1629+11C>A
ENST00000646276.1:c.*1435+11C>A ENSP00000496070.1:n.*1435+11C>A
ENST00000646592.1:c.2468+11C>A
ENST00000646902.1:c.3159+11C>A ENSP00000494101.1:n.3159+11C>A
ENST00000646993.1:c.*1558+11C>A ENSP00000493720.1:n.*1558+11C>A
ENST00000647013.1:c.3168+11C>A ENSP00000496741.1:n.3168+11C>A
ENST00000647015.1:c.2913+11C>A ENSP00000495389.1:n.2913+11C>A
ENST00000647086.1:c.*2892+11C>A ENSP00000493677.1:n.*2892+11C>A
ENST00000647158.1:c.*1303+11C>A ENSP00000495744.1:n.*1303+11C>A
ENST00000302539.8:c.3165+11C>A ENSP00000303960.4:n.3165+11C>A
ENST00000389817.7:c.3162+11C>A ENSP00000374467.3:n.3162+11C>A
ENST00000524561.1:n.294+11C>A
ENST00000526921.5:n.846+11C>A
ENST00000527905.5:c.*38+11C>A ENSP00000431653.1:n.*38+11C>A
NM_000352.4:c.3162+11C>A NP_000343.2:n.3162+11C>A
NM_001287174.1:c.3165+11C>A NP_001274103.1:n.3165+11C>A
XM_011520331.1:c.3162+11C>A XP_011518633.1:n.3162+11C>A
XM_011520332.1:c.3165+11C>A XP_011518634.1:n.3165+11C>A
XM_011520333.1:c.1662+11C>A XP_011518635.1:n.1662+11C>A
XR_930890.1:n.3228+11C>A
XR_930891.1:n.3228+11C>A
XR_930892.1:n.3128+11C>A
XR_930893.1:n.3125+11C>A
NM_001351295.1:c.3228+11C>A NP_001338224.1:n.3228+11C>A
NM_001351296.1:c.3162+11C>A NP_001338225.1:n.3162+11C>A
NM_001351297.1:c.3159+11C>A NP_001338226.1:n.3159+11C>A
NR_147094.1:n.3311+11C>A
XM_017018197.2:c.3231+11C>A XP_016873686.1:n.3231+11C>A
XM_017018199.1:c.3228+11C>A XP_016873688.1:n.3228+11C>A
XM_017018201.2:c.3231+11C>A XP_016873690.1:n.3231+11C>A
XM_017018202.1:c.1728+11C>A XP_016873691.1:n.1728+11C>A
XM_017018204.1:c.1119+11C>A XP_016873693.1:n.1119+11C>A
XM_024448668.1:c.1530+11C>A XP_024304436.1:n.1530+11C>A
XR_001747945.2:n.3303+11C>A
XR_001747946.2:n.3234+11C>A
XR_002957189.1:n.3383+11C>A
NM_000352.6:c.3162+11C>A MANE Select NP_000343.2:n.3162+11C>A
NM_001287174.2:c.3165+11C>A NP_001274103.1:n.3165+11C>A
NM_001351295.2:c.3228+11C>A NP_001338224.1:n.3228+11C>A
NM_001351296.2:c.3162+11C>A NP_001338225.1:n.3162+11C>A
NM_001351297.2:c.3159+11C>A NP_001338226.1:n.3159+11C>A
NR_147094.2:n.3311+11C>A
NM_001287174.3:c.3165+11C>A NP_001274103.1:n.3165+11C>A
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