Canonical Allele Identifier: CA5903754
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1219715
ClinVar RCV Id: RCV001590390
dbSNP Id: rs146679656
ExAC: 11:17482272 C / T
gnomAD v2: 11-17482272-C-T
gnomAD v3: 11-17460725-C-T
gnomAD v4: 11-17460725-C-T
MyVariant Identifiers: chr11:g.17482272C>T (hg19) chr11:g.17460725C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17460725C>T , CM000673.2:g.17460725C>T GRCh38
NC_000011.9:g.17482272C>T , CM000673.1:g.17482272C>T GRCh37
NC_000011.8:g.17438848C>T NCBI36
NG_008867.1:g.21178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.648+2713G>A
ENST00000526002.2:n.836-49G>A
ENST00000528202.6:n.889-49G>A
ENST00000642611.2:n.889-49G>A
ENST00000682051.1:n.836-49G>A
ENST00000682091.1:n.1749G>A
ENST00000682110.1:n.889-49G>A
ENST00000682140.1:c.820-49G>A ENSP00000507829.1:n.820-49G>A
ENST00000682199.1:n.889-49G>A
ENST00000682204.1:c.820-49G>A ENSP00000507094.1:n.820-49G>A
ENST00000682215.1:n.889-49G>A
ENST00000682288.1:c.820-49G>A ENSP00000507506.1:n.820-49G>A
ENST00000682442.1:n.923-49G>A
ENST00000682528.1:n.889-49G>A
ENST00000682673.1:n.836-49G>A
ENST00000682805.1:n.889-49G>A
ENST00000682863.1:n.889-49G>A
ENST00000682965.1:c.820-49G>A ENSP00000508229.1:n.820-49G>A
ENST00000683093.1:n.889-49G>A
ENST00000683136.1:c.820-49G>A ENSP00000507768.1:n.820-49G>A
ENST00000683153.1:n.889-49G>A
ENST00000683253.1:n.1754G>A
ENST00000683365.1:n.889-49G>A
ENST00000683377.1:n.889-49G>A
ENST00000683456.1:c.820-49G>A ENSP00000508318.1:n.820-49G>A
ENST00000683522.1:n.889-49G>A
ENST00000683531.1:n.892-49G>A
ENST00000683562.1:c.823-49G>A ENSP00000508265.1:n.823-49G>A
ENST00000683693.1:n.889-49G>A
ENST00000683725.1:c.823-49G>A ENSP00000507496.1:n.823-49G>A
ENST00000683808.1:n.110G>A
ENST00000684010.1:n.889-49G>A
ENST00000684157.1:n.889-49G>A
ENST00000684221.1:n.1610G>A
ENST00000684253.1:n.941-49G>A
ENST00000684288.1:c.823-49G>A ENSP00000507143.1:n.823-49G>A
ENST00000684313.1:n.916-49G>A
ENST00000684332.1:n.889-49G>A
ENST00000684371.1:n.836-49G>A
ENST00000684404.1:n.889-49G>A
ENST00000684442.1:n.889-49G>A
ENST00000684555.1:c.823-49G>A ENSP00000507705.1:n.823-49G>A
ENST00000684571.1:c.820-49G>A ENSP00000506935.1:n.820-49G>A
ENST00000684593.1:c.*528-49G>A ENSP00000507005.1:n.*528-49G>A
ENST00000684711.1:c.820-49G>A ENSP00000506841.1:n.820-49G>A
ENST00000302539.9:c.823-49G>A ENSP00000303960.4:n.823-49G>A
ENST00000389817.8:c.823-49G>A MANE Select ENSP00000374467.4:n.823-49G>A
ENST00000532728.6:c.699-49G>A
ENST00000635881.1:n.851-49G>A
ENST00000642271.1:c.820-49G>A ENSP00000493749.1:n.820-49G>A
ENST00000642611.1:n.774-49G>A
ENST00000642902.1:c.804-49G>A
ENST00000643260.1:c.820-49G>A ENSP00000494450.1:n.820-49G>A
ENST00000643562.1:c.823-49G>A ENSP00000496124.1:n.823-49G>A
ENST00000644472.1:c.820-49G>A ENSP00000495378.1:n.820-49G>A
ENST00000644484.1:c.820-49G>A ENSP00000493558.1:n.820-49G>A
ENST00000644542.1:c.*525-49G>A ENSP00000495532.1:n.*525-49G>A
ENST00000644675.1:c.820-49G>A ENSP00000494567.1:n.820-49G>A
ENST00000644757.1:c.823-49G>A ENSP00000495085.1:n.823-49G>A
ENST00000644772.1:c.823-49G>A ENSP00000494321.1:n.823-49G>A
ENST00000645076.1:c.105-49G>A
ENST00000645744.1:c.820-49G>A ENSP00000494564.1:n.820-49G>A
ENST00000645760.1:c.996-49G>A
ENST00000645884.1:c.820-49G>A ENSP00000495516.1:n.820-49G>A
ENST00000646003.1:c.820-49G>A ENSP00000495259.1:n.820-49G>A
ENST00000646207.1:c.820-49G>A ENSP00000495025.1:n.820-49G>A
ENST00000646276.1:c.799-49G>A ENSP00000496070.1:n.799-49G>A
ENST00000646592.1:c.74-49G>A
ENST00000646737.1:c.*868G>A ENSP00000494874.1:n.*868G>A
ENST00000646902.1:c.820-49G>A ENSP00000494101.1:n.820-49G>A
ENST00000646993.1:c.823-49G>A ENSP00000493720.1:n.823-49G>A
ENST00000647013.1:c.721-49G>A ENSP00000496741.1:n.721-49G>A
ENST00000647015.1:c.823-49G>A ENSP00000495389.1:n.823-49G>A
ENST00000647086.1:c.820-49G>A ENSP00000493677.1:n.820-49G>A
ENST00000647158.1:c.820-49G>A ENSP00000495744.1:n.820-49G>A
ENST00000302539.8:c.823-49G>A ENSP00000303960.4:n.823-49G>A
ENST00000389817.7:c.823-49G>A ENSP00000374467.3:n.823-49G>A
ENST00000527905.5:c.823-49G>A ENSP00000431653.1:n.823-49G>A
ENST00000532728.5:n.854-49G>A
NM_000352.4:c.823-49G>A NP_000343.2:n.823-49G>A
NM_001287174.1:c.823-49G>A NP_001274103.1:n.823-49G>A
XM_011520331.1:c.820-49G>A XP_011518633.1:n.820-49G>A
XM_011520332.1:c.823-49G>A XP_011518634.1:n.823-49G>A
XM_011520334.1:c.823-49G>A XP_011518636.1:n.823-49G>A
XR_930890.1:n.886-49G>A
XR_930891.1:n.886-49G>A
XR_930892.1:n.886-49G>A
XR_930893.1:n.886-49G>A
NM_001351295.1:c.823-49G>A NP_001338224.1:n.823-49G>A
NM_001351296.1:c.820-49G>A NP_001338225.1:n.820-49G>A
NM_001351297.1:c.820-49G>A NP_001338226.1:n.820-49G>A
NR_147094.1:n.889-49G>A
XM_017018197.2:c.823-49G>A XP_016873686.1:n.823-49G>A
XM_017018199.1:c.820-49G>A XP_016873688.1:n.820-49G>A
XM_017018201.2:c.823-49G>A XP_016873690.1:n.823-49G>A
XM_017018202.1:c.-695-49G>A XP_016873691.1:n.-695-49G>A
XM_024448668.1:c.-964G>A XP_024304436.1:n.-964G>A
XR_001747945.2:n.895-49G>A
XR_001747946.2:n.895-49G>A
XR_002957189.1:n.895-49G>A
NM_000352.6:c.823-49G>A MANE Select NP_000343.2:n.823-49G>A
NM_001287174.2:c.823-49G>A NP_001274103.1:n.823-49G>A
NM_001351295.2:c.823-49G>A NP_001338224.1:n.823-49G>A
NM_001351296.2:c.820-49G>A NP_001338225.1:n.820-49G>A
NM_001351297.2:c.820-49G>A NP_001338226.1:n.820-49G>A
NR_147094.2:n.889-49G>A
NM_001287174.3:c.823-49G>A NP_001274103.1:n.823-49G>A
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