Canonical Allele Identifier: CA1955131521
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1954895708
gnomAD v4: 11-17413126-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17413126T>G , CM000673.2:g.17413126T>G GRCh38
NC_000011.9:g.17434673T>G , CM000673.1:g.17434673T>G GRCh37
NC_000011.8:g.17391249T>G NCBI36
NG_008867.1:g.68777A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2144+268A>C
ENST00000529967.6:n.734+268A>C
ENST00000642611.2:n.2544+268A>C
ENST00000682051.1:n.2491+268A>C
ENST00000682110.1:n.2544+268A>C
ENST00000682140.1:c.2472+268A>C ENSP00000507829.1:n.2472+268A>C
ENST00000682185.1:n.3780+268A>C
ENST00000682204.1:c.*613+268A>C ENSP00000507094.1:n.*613+268A>C
ENST00000682215.1:n.2541+268A>C
ENST00000682288.1:c.*906+268A>C ENSP00000507506.1:n.*906+268A>C
ENST00000682442.1:n.2665+268A>C
ENST00000682528.1:n.2541+268A>C
ENST00000682673.1:n.2488+268A>C
ENST00000682805.1:n.2541+268A>C
ENST00000682965.1:c.2472+268A>C ENSP00000508229.1:n.2472+268A>C
ENST00000683093.1:n.2643+268A>C
ENST00000683136.1:c.2472+268A>C ENSP00000507768.1:n.2472+268A>C
ENST00000683153.1:n.2700+268A>C
ENST00000683365.1:n.2646+268A>C
ENST00000683377.1:n.2544+268A>C
ENST00000683456.1:c.2475+268A>C ENSP00000508318.1:n.2475+268A>C
ENST00000683522.1:n.2544+268A>C
ENST00000683562.1:c.*644+268A>C ENSP00000508265.1:n.*644+268A>C
ENST00000683693.1:n.2541+268A>C
ENST00000683725.1:c.2475+268A>C ENSP00000507496.1:n.2475+268A>C
ENST00000684010.1:n.2460-380A>C
ENST00000684157.1:n.2544+268A>C
ENST00000684253.1:n.2447+268A>C
ENST00000684288.1:c.*647+268A>C ENSP00000507143.1:n.*647+268A>C
ENST00000684313.1:n.1976+268A>C
ENST00000684332.1:n.2617+268A>C
ENST00000684371.1:n.2650+268A>C
ENST00000684404.1:n.2541+268A>C
ENST00000684442.1:n.2544+268A>C
ENST00000684555.1:c.*687+268A>C ENSP00000507705.1:n.*687+268A>C
ENST00000684571.1:c.2316+268A>C ENSP00000506935.1:n.2316+268A>C
ENST00000684593.1:c.*2180+268A>C ENSP00000507005.1:n.*2180+268A>C
ENST00000684711.1:c.*871+268A>C ENSP00000506841.1:n.*871+268A>C
ENST00000302539.9:c.2478+268A>C ENSP00000303960.4:n.2478+268A>C
ENST00000389817.8:c.2475+268A>C MANE Select ENSP00000374467.4:n.2475+268A>C
ENST00000642271.1:c.2472+268A>C ENSP00000493749.1:n.2472+268A>C
ENST00000642579.1:c.559+268A>C
ENST00000642611.1:n.2429+268A>C
ENST00000642902.1:c.2310+268A>C
ENST00000643260.1:c.2475+268A>C ENSP00000494450.1:n.2475+268A>C
ENST00000643562.1:c.*451+268A>C ENSP00000496124.1:n.*451+268A>C
ENST00000643925.1:c.416-149A>C
ENST00000644447.1:c.831+268A>C ENSP00000496282.1:n.831+268A>C
ENST00000644472.1:c.*836+268A>C ENSP00000495378.1:n.*836+268A>C
ENST00000644484.1:c.*684+268A>C ENSP00000493558.1:n.*684+268A>C
ENST00000644542.1:c.*2180+268A>C ENSP00000495532.1:n.*2180+268A>C
ENST00000644675.1:c.*647+268A>C ENSP00000494567.1:n.*647+268A>C
ENST00000644757.1:c.*780+268A>C ENSP00000495085.1:n.*780+268A>C
ENST00000644772.1:c.2541+268A>C ENSP00000494321.1:n.2541+268A>C
ENST00000645076.1:c.1727+268A>C
ENST00000645744.1:c.*839+268A>C ENSP00000494564.1:n.*839+268A>C
ENST00000645760.1:c.2750+268A>C
ENST00000645884.1:c.2475+268A>C ENSP00000495516.1:n.2475+268A>C
ENST00000646003.1:c.*532-380A>C ENSP00000495259.1:n.*532-380A>C
ENST00000646207.1:c.*839+268A>C ENSP00000495025.1:n.*839+268A>C
ENST00000646276.1:c.*748+268A>C ENSP00000496070.1:n.*748+268A>C
ENST00000646592.1:c.1701+268A>C
ENST00000646902.1:c.2472+268A>C ENSP00000494101.1:n.2472+268A>C
ENST00000646993.1:c.*871+268A>C ENSP00000493720.1:n.*871+268A>C
ENST00000647013.1:c.2481+268A>C ENSP00000496741.1:n.2481+268A>C
ENST00000647015.1:c.2226+268A>C ENSP00000495389.1:n.2226+268A>C
ENST00000647086.1:c.*2205+268A>C ENSP00000493677.1:n.*2205+268A>C
ENST00000647158.1:c.*616+268A>C ENSP00000495744.1:n.*616+268A>C
ENST00000302539.8:c.2478+268A>C ENSP00000303960.4:n.2478+268A>C
ENST00000389817.7:c.2475+268A>C ENSP00000374467.3:n.2475+268A>C
ENST00000526921.5:n.159+268A>C
ENST00000527905.5:c.2445+268A>C ENSP00000431653.1:n.2445+268A>C
ENST00000529967.5:n.144+268A>C
ENST00000530147.5:n.58+353A>C
ENST00000531911.1:n.589+268A>C
NM_000352.4:c.2475+268A>C NP_000343.2:n.2475+268A>C
NM_001287174.1:c.2478+268A>C NP_001274103.1:n.2478+268A>C
XM_011520331.1:c.2475+268A>C XP_011518633.1:n.2475+268A>C
XM_011520332.1:c.2478+268A>C XP_011518634.1:n.2478+268A>C
XM_011520333.1:c.975+268A>C XP_011518635.1:n.975+268A>C
XM_011520334.1:c.2478+268A>C XP_011518636.1:n.2478+268A>C
XR_930890.1:n.2541+268A>C
XR_930891.1:n.2541+268A>C
XR_930892.1:n.2541+268A>C
XR_930893.1:n.2538+268A>C
NM_001351295.1:c.2541+268A>C NP_001338224.1:n.2541+268A>C
NM_001351296.1:c.2475+268A>C NP_001338225.1:n.2475+268A>C
NM_001351297.1:c.2472+268A>C NP_001338226.1:n.2472+268A>C
NR_147094.1:n.2544+268A>C
XM_017018197.2:c.2544+268A>C XP_016873686.1:n.2544+268A>C
XM_017018199.1:c.2541+268A>C XP_016873688.1:n.2541+268A>C
XM_017018201.2:c.2544+268A>C XP_016873690.1:n.2544+268A>C
XM_017018202.1:c.1041+268A>C XP_016873691.1:n.1041+268A>C
XM_017018204.1:c.432+268A>C XP_016873693.1:n.432+268A>C
XM_024448668.1:c.843+268A>C XP_024304436.1:n.843+268A>C
XR_001747945.2:n.2616+268A>C
XR_001747946.2:n.2547+268A>C
XR_002957189.1:n.2616+268A>C
NM_000352.6:c.2475+268A>C MANE Select NP_000343.2:n.2475+268A>C
NM_001287174.2:c.2478+268A>C NP_001274103.1:n.2478+268A>C
NM_001351295.2:c.2541+268A>C NP_001338224.1:n.2541+268A>C
NM_001351296.2:c.2475+268A>C NP_001338225.1:n.2475+268A>C
NM_001351297.2:c.2472+268A>C NP_001338226.1:n.2472+268A>C
NR_147094.2:n.2544+268A>C
NM_001287174.3:c.2478+268A>C NP_001274103.1:n.2478+268A>C
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