Canonical Allele Identifier: CA935532043
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1954858588
gnomAD v3: 11-17412459-T-C
gnomAD v4: 11-17412459-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412459T>C , CM000673.2:g.17412459T>C GRCh38
NC_000011.9:g.17434006T>C , CM000673.1:g.17434006T>C GRCh37
NC_000011.8:g.17390582T>C NCBI36
NG_008867.1:g.69444A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2225+207A>G
ENST00000529967.6:n.815+207A>G
ENST00000642611.2:n.2625+207A>G
ENST00000682051.1:n.2572+207A>G
ENST00000682110.1:n.2625+207A>G
ENST00000682140.1:c.2553+207A>G ENSP00000507829.1:n.2553+207A>G
ENST00000682185.1:n.3861+207A>G
ENST00000682204.1:c.*694+207A>G ENSP00000507094.1:n.*694+207A>G
ENST00000682215.1:n.2622+207A>G
ENST00000682288.1:c.*987+207A>G ENSP00000507506.1:n.*987+207A>G
ENST00000682442.1:n.2746+207A>G
ENST00000682528.1:n.2622+207A>G
ENST00000682673.1:n.2569+207A>G
ENST00000682805.1:n.2622+207A>G
ENST00000682965.1:c.2553+207A>G ENSP00000508229.1:n.2553+207A>G
ENST00000683093.1:n.2724+207A>G
ENST00000683136.1:c.2553+207A>G ENSP00000507768.1:n.2553+207A>G
ENST00000683153.1:n.2781+207A>G
ENST00000683365.1:n.2727+207A>G
ENST00000683377.1:n.2625+207A>G
ENST00000683456.1:c.2556+207A>G ENSP00000508318.1:n.2556+207A>G
ENST00000683522.1:n.2625+207A>G
ENST00000683562.1:c.*725+207A>G ENSP00000508265.1:n.*725+207A>G
ENST00000683693.1:n.2622+207A>G
ENST00000683725.1:c.2556+207A>G ENSP00000507496.1:n.2556+207A>G
ENST00000684010.1:n.2540+207A>G
ENST00000684157.1:n.2625+207A>G
ENST00000684253.1:n.2528+207A>G
ENST00000684288.1:c.*728+207A>G ENSP00000507143.1:n.*728+207A>G
ENST00000684313.1:n.2057+207A>G
ENST00000684332.1:n.2698+207A>G
ENST00000684371.1:n.2731+207A>G
ENST00000684404.1:n.2622+207A>G
ENST00000684442.1:n.2625+207A>G
ENST00000684555.1:c.*768+207A>G ENSP00000507705.1:n.*768+207A>G
ENST00000684571.1:c.2397+207A>G ENSP00000506935.1:n.2397+207A>G
ENST00000684593.1:c.*2261+207A>G ENSP00000507005.1:n.*2261+207A>G
ENST00000684711.1:c.*952+207A>G ENSP00000506841.1:n.*952+207A>G
ENST00000302539.9:c.2559+207A>G ENSP00000303960.4:n.2559+207A>G
ENST00000389817.8:c.2556+207A>G MANE Select ENSP00000374467.4:n.2556+207A>G
ENST00000642271.1:c.2553+207A>G ENSP00000493749.1:n.2553+207A>G
ENST00000642579.1:c.640+207A>G
ENST00000642611.1:n.2510+207A>G
ENST00000642902.1:c.2391+207A>G
ENST00000643260.1:c.2556+207A>G ENSP00000494450.1:n.2556+207A>G
ENST00000643562.1:c.*532+207A>G ENSP00000496124.1:n.*532+207A>G
ENST00000643925.1:c.600+207A>G
ENST00000644447.1:c.912+207A>G ENSP00000496282.1:n.912+207A>G
ENST00000644472.1:c.*917+207A>G ENSP00000495378.1:n.*917+207A>G
ENST00000644484.1:c.*765+207A>G ENSP00000493558.1:n.*765+207A>G
ENST00000644542.1:c.*2261+207A>G ENSP00000495532.1:n.*2261+207A>G
ENST00000644675.1:c.*728+207A>G ENSP00000494567.1:n.*728+207A>G
ENST00000644757.1:c.*861+207A>G ENSP00000495085.1:n.*861+207A>G
ENST00000644772.1:c.2622+207A>G ENSP00000494321.1:n.2622+207A>G
ENST00000645076.1:c.1808+207A>G
ENST00000645744.1:c.*920+207A>G ENSP00000494564.1:n.*920+207A>G
ENST00000645760.1:c.2831+207A>G
ENST00000645884.1:c.2556+207A>G ENSP00000495516.1:n.2556+207A>G
ENST00000646003.1:c.*612+207A>G ENSP00000495259.1:n.*612+207A>G
ENST00000646207.1:c.*920+207A>G ENSP00000495025.1:n.*920+207A>G
ENST00000646276.1:c.*829+207A>G ENSP00000496070.1:n.*829+207A>G
ENST00000646592.1:c.1782+207A>G
ENST00000646902.1:c.2553+207A>G ENSP00000494101.1:n.2553+207A>G
ENST00000646993.1:c.*952+207A>G ENSP00000493720.1:n.*952+207A>G
ENST00000647013.1:c.2562+207A>G ENSP00000496741.1:n.2562+207A>G
ENST00000647015.1:c.2307+207A>G ENSP00000495389.1:n.2307+207A>G
ENST00000647086.1:c.*2286+207A>G ENSP00000493677.1:n.*2286+207A>G
ENST00000647158.1:c.*697+207A>G ENSP00000495744.1:n.*697+207A>G
ENST00000302539.8:c.2559+207A>G ENSP00000303960.4:n.2559+207A>G
ENST00000389817.7:c.2556+207A>G ENSP00000374467.3:n.2556+207A>G
ENST00000526921.5:n.240+207A>G
ENST00000527905.5:c.2526+207A>G ENSP00000431653.1:n.2526+207A>G
ENST00000529967.5:n.225+207A>G
ENST00000530147.5:n.139+207A>G
ENST00000531911.1:n.670+207A>G
NM_000352.4:c.2556+207A>G NP_000343.2:n.2556+207A>G
NM_001287174.1:c.2559+207A>G NP_001274103.1:n.2559+207A>G
XM_011520331.1:c.2556+207A>G XP_011518633.1:n.2556+207A>G
XM_011520332.1:c.2559+207A>G XP_011518634.1:n.2559+207A>G
XM_011520333.1:c.1056+207A>G XP_011518635.1:n.1056+207A>G
XM_011520334.1:c.2559+207A>G XP_011518636.1:n.2559+207A>G
XR_930890.1:n.2622+207A>G
XR_930891.1:n.2622+207A>G
XR_930892.1:n.2622+207A>G
XR_930893.1:n.2619+207A>G
NM_001351295.1:c.2622+207A>G NP_001338224.1:n.2622+207A>G
NM_001351296.1:c.2556+207A>G NP_001338225.1:n.2556+207A>G
NM_001351297.1:c.2553+207A>G NP_001338226.1:n.2553+207A>G
NR_147094.1:n.2625+207A>G
XM_017018197.2:c.2625+207A>G XP_016873686.1:n.2625+207A>G
XM_017018199.1:c.2622+207A>G XP_016873688.1:n.2622+207A>G
XM_017018201.2:c.2625+207A>G XP_016873690.1:n.2625+207A>G
XM_017018202.1:c.1122+207A>G XP_016873691.1:n.1122+207A>G
XM_017018204.1:c.513+207A>G XP_016873693.1:n.513+207A>G
XM_024448668.1:c.924+207A>G XP_024304436.1:n.924+207A>G
XR_001747945.2:n.2697+207A>G
XR_001747946.2:n.2628+207A>G
XR_002957189.1:n.2697+207A>G
NM_000352.6:c.2556+207A>G MANE Select NP_000343.2:n.2556+207A>G
NM_001287174.2:c.2559+207A>G NP_001274103.1:n.2559+207A>G
NM_001351295.2:c.2622+207A>G NP_001338224.1:n.2622+207A>G
NM_001351296.2:c.2556+207A>G NP_001338225.1:n.2556+207A>G
NM_001351297.2:c.2553+207A>G NP_001338226.1:n.2553+207A>G
NR_147094.2:n.2625+207A>G
NM_001287174.3:c.2559+207A>G NP_001274103.1:n.2559+207A>G
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