Canonical Allele Identifier: CA171065
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 157693
ClinVar RCV Id: RCV000144988 RCV001565995 RCV002251735 RCV002251736
dbSNP Id: rs73423036
ExAC: 11:17434191 C / T
gnomAD v2: 11-17434191-C-T
gnomAD v3: 11-17412644-C-T
gnomAD v4: 11-17412644-C-T
MyVariant Identifiers: chr11:g.17434191C>T (hg19) chr11:g.17412644C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412644C>T , CM000673.2:g.17412644C>T GRCh38
NC_000011.9:g.17434191C>T , CM000673.1:g.17434191C>T GRCh37
NC_000011.8:g.17390767C>T NCBI36
NG_008867.1:g.69259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2225+22G>A
ENST00000529967.6:n.815+22G>A
ENST00000642611.2:n.2625+22G>A
ENST00000682051.1:n.2572+22G>A
ENST00000682110.1:n.2625+22G>A
ENST00000682140.1:c.2553+22G>A ENSP00000507829.1:n.2553+22G>A
ENST00000682185.1:n.3861+22G>A
ENST00000682204.1:c.*694+22G>A ENSP00000507094.1:n.*694+22G>A
ENST00000682215.1:n.2622+22G>A
ENST00000682288.1:c.*987+22G>A ENSP00000507506.1:n.*987+22G>A
ENST00000682442.1:n.2746+22G>A
ENST00000682528.1:n.2622+22G>A
ENST00000682673.1:n.2569+22G>A
ENST00000682805.1:n.2622+22G>A
ENST00000682965.1:c.2553+22G>A ENSP00000508229.1:n.2553+22G>A
ENST00000683093.1:n.2724+22G>A
ENST00000683136.1:c.2553+22G>A ENSP00000507768.1:n.2553+22G>A
ENST00000683153.1:n.2781+22G>A
ENST00000683365.1:n.2727+22G>A
ENST00000683377.1:n.2625+22G>A
ENST00000683456.1:c.2556+22G>A ENSP00000508318.1:n.2556+22G>A
ENST00000683522.1:n.2625+22G>A
ENST00000683562.1:c.*725+22G>A ENSP00000508265.1:n.*725+22G>A
ENST00000683693.1:n.2622+22G>A
ENST00000683725.1:c.2556+22G>A ENSP00000507496.1:n.2556+22G>A
ENST00000684010.1:n.2540+22G>A
ENST00000684157.1:n.2625+22G>A
ENST00000684253.1:n.2528+22G>A
ENST00000684288.1:c.*728+22G>A ENSP00000507143.1:n.*728+22G>A
ENST00000684313.1:n.2057+22G>A
ENST00000684332.1:n.2698+22G>A
ENST00000684371.1:n.2731+22G>A
ENST00000684404.1:n.2622+22G>A
ENST00000684442.1:n.2625+22G>A
ENST00000684555.1:c.*768+22G>A ENSP00000507705.1:n.*768+22G>A
ENST00000684571.1:c.2397+22G>A ENSP00000506935.1:n.2397+22G>A
ENST00000684593.1:c.*2261+22G>A ENSP00000507005.1:n.*2261+22G>A
ENST00000684711.1:c.*952+22G>A ENSP00000506841.1:n.*952+22G>A
ENST00000302539.9:c.2559+22G>A ENSP00000303960.4:n.2559+22G>A
ENST00000389817.8:c.2556+22G>A MANE Select ENSP00000374467.4:n.2556+22G>A
ENST00000642271.1:c.2553+22G>A ENSP00000493749.1:n.2553+22G>A
ENST00000642579.1:c.640+22G>A
ENST00000642611.1:n.2510+22G>A
ENST00000642902.1:c.2391+22G>A
ENST00000643260.1:c.2556+22G>A ENSP00000494450.1:n.2556+22G>A
ENST00000643562.1:c.*532+22G>A ENSP00000496124.1:n.*532+22G>A
ENST00000643925.1:c.600+22G>A
ENST00000644447.1:c.912+22G>A ENSP00000496282.1:n.912+22G>A
ENST00000644472.1:c.*917+22G>A ENSP00000495378.1:n.*917+22G>A
ENST00000644484.1:c.*765+22G>A ENSP00000493558.1:n.*765+22G>A
ENST00000644542.1:c.*2261+22G>A ENSP00000495532.1:n.*2261+22G>A
ENST00000644675.1:c.*728+22G>A ENSP00000494567.1:n.*728+22G>A
ENST00000644757.1:c.*861+22G>A ENSP00000495085.1:n.*861+22G>A
ENST00000644772.1:c.2622+22G>A ENSP00000494321.1:n.2622+22G>A
ENST00000645076.1:c.1808+22G>A
ENST00000645744.1:c.*920+22G>A ENSP00000494564.1:n.*920+22G>A
ENST00000645760.1:c.2831+22G>A
ENST00000645884.1:c.2556+22G>A ENSP00000495516.1:n.2556+22G>A
ENST00000646003.1:c.*612+22G>A ENSP00000495259.1:n.*612+22G>A
ENST00000646207.1:c.*920+22G>A ENSP00000495025.1:n.*920+22G>A
ENST00000646276.1:c.*829+22G>A ENSP00000496070.1:n.*829+22G>A
ENST00000646592.1:c.1782+22G>A
ENST00000646902.1:c.2553+22G>A ENSP00000494101.1:n.2553+22G>A
ENST00000646993.1:c.*952+22G>A ENSP00000493720.1:n.*952+22G>A
ENST00000647013.1:c.2562+22G>A ENSP00000496741.1:n.2562+22G>A
ENST00000647015.1:c.2307+22G>A ENSP00000495389.1:n.2307+22G>A
ENST00000647086.1:c.*2286+22G>A ENSP00000493677.1:n.*2286+22G>A
ENST00000647158.1:c.*697+22G>A ENSP00000495744.1:n.*697+22G>A
ENST00000302539.8:c.2559+22G>A ENSP00000303960.4:n.2559+22G>A
ENST00000389817.7:c.2556+22G>A ENSP00000374467.3:n.2556+22G>A
ENST00000526921.5:n.240+22G>A
ENST00000527905.5:c.2526+22G>A ENSP00000431653.1:n.2526+22G>A
ENST00000529967.5:n.225+22G>A
ENST00000530147.5:n.139+22G>A
ENST00000531911.1:n.670+22G>A
NM_000352.4:c.2556+22G>A NP_000343.2:n.2556+22G>A
NM_001287174.1:c.2559+22G>A NP_001274103.1:n.2559+22G>A
XM_011520331.1:c.2556+22G>A XP_011518633.1:n.2556+22G>A
XM_011520332.1:c.2559+22G>A XP_011518634.1:n.2559+22G>A
XM_011520333.1:c.1056+22G>A XP_011518635.1:n.1056+22G>A
XM_011520334.1:c.2559+22G>A XP_011518636.1:n.2559+22G>A
XR_930890.1:n.2622+22G>A
XR_930891.1:n.2622+22G>A
XR_930892.1:n.2622+22G>A
XR_930893.1:n.2619+22G>A
NM_001351295.1:c.2622+22G>A NP_001338224.1:n.2622+22G>A
NM_001351296.1:c.2556+22G>A NP_001338225.1:n.2556+22G>A
NM_001351297.1:c.2553+22G>A NP_001338226.1:n.2553+22G>A
NR_147094.1:n.2625+22G>A
XM_017018197.2:c.2625+22G>A XP_016873686.1:n.2625+22G>A
XM_017018199.1:c.2622+22G>A XP_016873688.1:n.2622+22G>A
XM_017018201.2:c.2625+22G>A XP_016873690.1:n.2625+22G>A
XM_017018202.1:c.1122+22G>A XP_016873691.1:n.1122+22G>A
XM_017018204.1:c.513+22G>A XP_016873693.1:n.513+22G>A
XM_024448668.1:c.924+22G>A XP_024304436.1:n.924+22G>A
XR_001747945.2:n.2697+22G>A
XR_001747946.2:n.2628+22G>A
XR_002957189.1:n.2697+22G>A
NM_000352.6:c.2556+22G>A MANE Select NP_000343.2:n.2556+22G>A
NM_001287174.2:c.2559+22G>A NP_001274103.1:n.2559+22G>A
NM_001351295.2:c.2622+22G>A NP_001338224.1:n.2622+22G>A
NM_001351296.2:c.2556+22G>A NP_001338225.1:n.2556+22G>A
NM_001351297.2:c.2553+22G>A NP_001338226.1:n.2553+22G>A
NR_147094.2:n.2625+22G>A
NM_001287174.3:c.2559+22G>A NP_001274103.1:n.2559+22G>A
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