Canonical Allele Identifier: CA2612661769
Gene: ABCC8 HGNC NCBI

Linked Data

gnomAD v4: 11-17412639-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412639C>T , CM000673.2:g.17412639C>T GRCh38
NC_000011.9:g.17434186C>T , CM000673.1:g.17434186C>T GRCh37
NC_000011.8:g.17390762C>T NCBI36
NG_008867.1:g.69264G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.2225+27G>A
ENST00000529967.6:n.815+27G>A
ENST00000642611.2:n.2625+27G>A
ENST00000682051.1:n.2572+27G>A
ENST00000682110.1:n.2625+27G>A
ENST00000682140.1:c.2553+27G>A ENSP00000507829.1:n.2553+27G>A
ENST00000682185.1:n.3861+27G>A
ENST00000682204.1:c.*694+27G>A ENSP00000507094.1:n.*694+27G>A
ENST00000682215.1:n.2622+27G>A
ENST00000682288.1:c.*987+27G>A ENSP00000507506.1:n.*987+27G>A
ENST00000682442.1:n.2746+27G>A
ENST00000682528.1:n.2622+27G>A
ENST00000682673.1:n.2569+27G>A
ENST00000682805.1:n.2622+27G>A
ENST00000682965.1:c.2553+27G>A ENSP00000508229.1:n.2553+27G>A
ENST00000683093.1:n.2724+27G>A
ENST00000683136.1:c.2553+27G>A ENSP00000507768.1:n.2553+27G>A
ENST00000683153.1:n.2781+27G>A
ENST00000683365.1:n.2727+27G>A
ENST00000683377.1:n.2625+27G>A
ENST00000683456.1:c.2556+27G>A ENSP00000508318.1:n.2556+27G>A
ENST00000683522.1:n.2625+27G>A
ENST00000683562.1:c.*725+27G>A ENSP00000508265.1:n.*725+27G>A
ENST00000683693.1:n.2622+27G>A
ENST00000683725.1:c.2556+27G>A ENSP00000507496.1:n.2556+27G>A
ENST00000684010.1:n.2540+27G>A
ENST00000684157.1:n.2625+27G>A
ENST00000684253.1:n.2528+27G>A
ENST00000684288.1:c.*728+27G>A ENSP00000507143.1:n.*728+27G>A
ENST00000684313.1:n.2057+27G>A
ENST00000684332.1:n.2698+27G>A
ENST00000684371.1:n.2731+27G>A
ENST00000684404.1:n.2622+27G>A
ENST00000684442.1:n.2625+27G>A
ENST00000684555.1:c.*768+27G>A ENSP00000507705.1:n.*768+27G>A
ENST00000684571.1:c.2397+27G>A ENSP00000506935.1:n.2397+27G>A
ENST00000684593.1:c.*2261+27G>A ENSP00000507005.1:n.*2261+27G>A
ENST00000684711.1:c.*952+27G>A ENSP00000506841.1:n.*952+27G>A
ENST00000302539.9:c.2559+27G>A ENSP00000303960.4:n.2559+27G>A
ENST00000389817.8:c.2556+27G>A MANE Select ENSP00000374467.4:n.2556+27G>A
ENST00000642271.1:c.2553+27G>A ENSP00000493749.1:n.2553+27G>A
ENST00000642579.1:c.640+27G>A
ENST00000642611.1:n.2510+27G>A
ENST00000642902.1:c.2391+27G>A
ENST00000643260.1:c.2556+27G>A ENSP00000494450.1:n.2556+27G>A
ENST00000643562.1:c.*532+27G>A ENSP00000496124.1:n.*532+27G>A
ENST00000643925.1:c.600+27G>A
ENST00000644447.1:c.912+27G>A ENSP00000496282.1:n.912+27G>A
ENST00000644472.1:c.*917+27G>A ENSP00000495378.1:n.*917+27G>A
ENST00000644484.1:c.*765+27G>A ENSP00000493558.1:n.*765+27G>A
ENST00000644542.1:c.*2261+27G>A ENSP00000495532.1:n.*2261+27G>A
ENST00000644675.1:c.*728+27G>A ENSP00000494567.1:n.*728+27G>A
ENST00000644757.1:c.*861+27G>A ENSP00000495085.1:n.*861+27G>A
ENST00000644772.1:c.2622+27G>A ENSP00000494321.1:n.2622+27G>A
ENST00000645076.1:c.1808+27G>A
ENST00000645744.1:c.*920+27G>A ENSP00000494564.1:n.*920+27G>A
ENST00000645760.1:c.2831+27G>A
ENST00000645884.1:c.2556+27G>A ENSP00000495516.1:n.2556+27G>A
ENST00000646003.1:c.*612+27G>A ENSP00000495259.1:n.*612+27G>A
ENST00000646207.1:c.*920+27G>A ENSP00000495025.1:n.*920+27G>A
ENST00000646276.1:c.*829+27G>A ENSP00000496070.1:n.*829+27G>A
ENST00000646592.1:c.1782+27G>A
ENST00000646902.1:c.2553+27G>A ENSP00000494101.1:n.2553+27G>A
ENST00000646993.1:c.*952+27G>A ENSP00000493720.1:n.*952+27G>A
ENST00000647013.1:c.2562+27G>A ENSP00000496741.1:n.2562+27G>A
ENST00000647015.1:c.2307+27G>A ENSP00000495389.1:n.2307+27G>A
ENST00000647086.1:c.*2286+27G>A ENSP00000493677.1:n.*2286+27G>A
ENST00000647158.1:c.*697+27G>A ENSP00000495744.1:n.*697+27G>A
ENST00000302539.8:c.2559+27G>A ENSP00000303960.4:n.2559+27G>A
ENST00000389817.7:c.2556+27G>A ENSP00000374467.3:n.2556+27G>A
ENST00000526921.5:n.240+27G>A
ENST00000527905.5:c.2526+27G>A ENSP00000431653.1:n.2526+27G>A
ENST00000529967.5:n.225+27G>A
ENST00000530147.5:n.139+27G>A
ENST00000531911.1:n.670+27G>A
NM_000352.4:c.2556+27G>A NP_000343.2:n.2556+27G>A
NM_001287174.1:c.2559+27G>A NP_001274103.1:n.2559+27G>A
XM_011520331.1:c.2556+27G>A XP_011518633.1:n.2556+27G>A
XM_011520332.1:c.2559+27G>A XP_011518634.1:n.2559+27G>A
XM_011520333.1:c.1056+27G>A XP_011518635.1:n.1056+27G>A
XM_011520334.1:c.2559+27G>A XP_011518636.1:n.2559+27G>A
XR_930890.1:n.2622+27G>A
XR_930891.1:n.2622+27G>A
XR_930892.1:n.2622+27G>A
XR_930893.1:n.2619+27G>A
NM_001351295.1:c.2622+27G>A NP_001338224.1:n.2622+27G>A
NM_001351296.1:c.2556+27G>A NP_001338225.1:n.2556+27G>A
NM_001351297.1:c.2553+27G>A NP_001338226.1:n.2553+27G>A
NR_147094.1:n.2625+27G>A
XM_017018197.2:c.2625+27G>A XP_016873686.1:n.2625+27G>A
XM_017018199.1:c.2622+27G>A XP_016873688.1:n.2622+27G>A
XM_017018201.2:c.2625+27G>A XP_016873690.1:n.2625+27G>A
XM_017018202.1:c.1122+27G>A XP_016873691.1:n.1122+27G>A
XM_017018204.1:c.513+27G>A XP_016873693.1:n.513+27G>A
XM_024448668.1:c.924+27G>A XP_024304436.1:n.924+27G>A
XR_001747945.2:n.2697+27G>A
XR_001747946.2:n.2628+27G>A
XR_002957189.1:n.2697+27G>A
NM_000352.6:c.2556+27G>A MANE Select NP_000343.2:n.2556+27G>A
NM_001287174.2:c.2559+27G>A NP_001274103.1:n.2559+27G>A
NM_001351295.2:c.2622+27G>A NP_001338224.1:n.2622+27G>A
NM_001351296.2:c.2556+27G>A NP_001338225.1:n.2556+27G>A
NM_001351297.2:c.2553+27G>A NP_001338226.1:n.2553+27G>A
NR_147094.2:n.2625+27G>A
NM_001287174.3:c.2559+27G>A NP_001274103.1:n.2559+27G>A
Search 100 bp 5'
Search 100 bp 3'