Canonical Allele Identifier: CA379806350
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17410587G>C , CM000673.2:g.17410587G>C GRCh38
NC_000011.9:g.17432134G>C , CM000673.1:g.17432134G>C GRCh37
NC_000011.8:g.17388710G>C NCBI36
NG_008867.1:g.71316C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2292C>G
ENST00000529967.6:n.882C>G
ENST00000642611.2:n.2692C>G
ENST00000682051.1:n.2639C>G
ENST00000682110.1:n.2692C>G
ENST00000682140.1:c.2620C>G ENSP00000507829.1:p.Leu874Val
ENST00000682185.1:n.3928C>G
ENST00000682204.1:c.*761C>G ENSP00000507094.1:n.*761C>G
ENST00000682215.1:n.2689C>G
ENST00000682288.1:c.*1054C>G ENSP00000507506.1:n.*1054C>G
ENST00000682442.1:n.2813C>G
ENST00000682528.1:n.2689C>G
ENST00000682673.1:n.2636C>G
ENST00000682805.1:n.2689C>G
ENST00000682965.1:c.2620C>G ENSP00000508229.1:p.Leu874Val
ENST00000683093.1:n.2791C>G
ENST00000683136.1:c.2620C>G ENSP00000507768.1:p.Leu874Val
ENST00000683153.1:n.2848C>G
ENST00000683365.1:n.2794C>G
ENST00000683377.1:n.2692C>G
ENST00000683456.1:c.2623C>G ENSP00000508318.1:p.Leu875Val
ENST00000683522.1:n.2692C>G
ENST00000683562.1:c.*792C>G ENSP00000508265.1:n.*792C>G
ENST00000683693.1:n.2689C>G
ENST00000683725.1:c.2623C>G ENSP00000507496.1:p.Leu875Val
ENST00000684010.1:n.2607C>G
ENST00000684157.1:n.2692C>G
ENST00000684253.1:n.2595C>G
ENST00000684288.1:c.*795C>G ENSP00000507143.1:n.*795C>G
ENST00000684313.1:n.2124C>G
ENST00000684332.1:n.2765C>G
ENST00000684371.1:n.2798C>G
ENST00000684404.1:n.2689C>G
ENST00000684442.1:n.2692C>G
ENST00000684555.1:c.*835C>G ENSP00000507705.1:n.*835C>G
ENST00000684571.1:c.2464C>G ENSP00000506935.1:p.Leu822Val
ENST00000684593.1:c.*2328C>G ENSP00000507005.1:n.*2328C>G
ENST00000684711.1:c.*1019C>G ENSP00000506841.1:n.*1019C>G
ENST00000302539.9:c.2626C>G ENSP00000303960.4:p.Leu876Val
ENST00000389817.8:c.2623C>G MANE Select ENSP00000374467.4:p.Leu875Val
ENST00000642271.1:c.2620C>G ENSP00000493749.1:p.Leu874Val
ENST00000642579.1:c.707C>G
ENST00000642611.1:n.2577C>G
ENST00000642902.1:c.2458C>G
ENST00000643260.1:c.2623C>G ENSP00000494450.1:p.Leu875Val
ENST00000643562.1:c.*599C>G ENSP00000496124.1:n.*599C>G
ENST00000643925.1:c.667C>G
ENST00000644447.1:c.979C>G ENSP00000496282.1:p.Leu327Val
ENST00000644472.1:c.*984C>G ENSP00000495378.1:n.*984C>G
ENST00000644484.1:c.*832C>G ENSP00000493558.1:n.*832C>G
ENST00000644542.1:c.*2328C>G ENSP00000495532.1:n.*2328C>G
ENST00000644675.1:c.*795C>G ENSP00000494567.1:n.*795C>G
ENST00000644757.1:c.*928C>G ENSP00000495085.1:n.*928C>G
ENST00000644772.1:c.2689C>G ENSP00000494321.1:p.Leu897Val
ENST00000645076.1:c.1875C>G
ENST00000645744.1:c.*987C>G ENSP00000494564.1:n.*987C>G
ENST00000645760.1:c.2898C>G
ENST00000645884.1:c.2623C>G ENSP00000495516.1:p.Leu875Val
ENST00000646003.1:c.*679C>G ENSP00000495259.1:n.*679C>G
ENST00000646207.1:c.*987C>G ENSP00000495025.1:n.*987C>G
ENST00000646276.1:c.*896C>G ENSP00000496070.1:n.*896C>G
ENST00000646592.1:c.1849C>G
ENST00000646902.1:c.2620C>G ENSP00000494101.1:p.Leu874Val
ENST00000646993.1:c.*1019C>G ENSP00000493720.1:n.*1019C>G
ENST00000647013.1:c.2629C>G ENSP00000496741.1:n.2629C>G
ENST00000647015.1:c.2374C>G ENSP00000495389.1:p.Leu792Val
ENST00000647086.1:c.*2353C>G ENSP00000493677.1:n.*2353C>G
ENST00000647158.1:c.*764C>G ENSP00000495744.1:n.*764C>G
ENST00000302539.8:c.2626C>G ENSP00000303960.4:p.Leu876Val
ENST00000389817.7:c.2623C>G ENSP00000374467.3:p.Leu875Val
ENST00000526921.5:n.307C>G
ENST00000527905.5:c.2593C>G ENSP00000431653.1:p.Leu865Val
ENST00000529967.5:n.292C>G
ENST00000530147.5:n.206C>G
NM_000352.4:c.2623C>G NP_000343.2:p.Leu875Val
NM_001287174.1:c.2626C>G NP_001274103.1:p.Leu876Val
XM_011520331.1:c.2623C>G XP_011518633.1:p.Leu875Val
XM_011520332.1:c.2626C>G XP_011518634.1:p.Leu876Val
XM_011520333.1:c.1123C>G XP_011518635.1:p.Leu375Val
XM_011520334.1:c.2626C>G XP_011518636.1:p.Leu876Val
XR_930890.1:n.2689C>G
XR_930891.1:n.2689C>G
XR_930892.1:n.2689C>G
XR_930893.1:n.2686C>G
NM_001351295.1:c.2689C>G NP_001338224.1:p.Leu897Val
NM_001351296.1:c.2623C>G NP_001338225.1:p.Leu875Val
NM_001351297.1:c.2620C>G NP_001338226.1:p.Leu874Val
NR_147094.1:n.2692C>G
XM_017018197.2:c.2692C>G XP_016873686.1:p.Leu898Val
XM_017018199.1:c.2689C>G XP_016873688.1:p.Leu897Val
XM_017018201.2:c.2692C>G XP_016873690.1:p.Leu898Val
XM_017018202.1:c.1189C>G XP_016873691.1:p.Leu397Val
XM_017018204.1:c.580C>G XP_016873693.1:p.Leu194Val
XM_024448668.1:c.991C>G XP_024304436.1:p.Leu331Val
XR_001747945.2:n.2764C>G
XR_001747946.2:n.2695C>G
XR_002957189.1:n.2764C>G
NM_000352.6:c.2623C>G MANE Select NP_000343.2:p.Leu875Val
NM_001287174.2:c.2626C>G NP_001274103.1:p.Leu876Val
NM_001351295.2:c.2689C>G NP_001338224.1:p.Leu897Val
NM_001351296.2:c.2623C>G NP_001338225.1:p.Leu875Val
NM_001351297.2:c.2620C>G NP_001338226.1:p.Leu874Val
NR_147094.2:n.2692C>G
NM_001287174.3:c.2626C>G NP_001274103.1:p.Leu876Val