Canonical Allele Identifier: CA16041445
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 370556
dbSNP Id: rs1057516585

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406942C>T , CM000673.2:g.17406942C>T GRCh38
NC_000011.9:g.17428489C>T , CM000673.1:g.17428489C>T GRCh37
NC_000011.8:g.17385065C>T NCBI36
NG_008867.1:g.74961G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.2677G>A
ENST00000529967.6:n.1447G>A
ENST00000532220.2:n.840G>A
ENST00000642611.2:n.3177G>A
ENST00000645004.2:n.607G>A
ENST00000682051.1:n.3124G>A
ENST00000682110.1:n.3177G>A
ENST00000682140.1:c.3105G>A ENSP00000507829.1:p.Trp1035Ter
ENST00000682185.1:n.4413G>A
ENST00000682204.1:c.*1246G>A ENSP00000507094.1:n.*1246G>A
ENST00000682215.1:n.3174G>A
ENST00000682288.1:c.*1539G>A ENSP00000507506.1:n.*1539G>A
ENST00000682442.1:n.3298G>A
ENST00000682528.1:n.3254G>A
ENST00000682673.1:n.3121G>A
ENST00000682805.1:n.3174G>A
ENST00000682965.1:c.3105G>A ENSP00000508229.1:p.Trp1035Ter
ENST00000683093.1:n.3276G>A
ENST00000683136.1:c.3105G>A ENSP00000507768.1:p.Trp1035Ter
ENST00000683153.1:n.3333G>A
ENST00000683365.1:n.3279G>A
ENST00000683377.1:n.3177G>A
ENST00000683456.1:c.*245G>A ENSP00000508318.1:n.*245G>A
ENST00000683522.1:n.3177G>A
ENST00000683562.1:c.*1277G>A ENSP00000508265.1:n.*1277G>A
ENST00000683693.1:n.3254G>A
ENST00000683725.1:c.3108G>A ENSP00000507496.1:p.Trp1036Ter
ENST00000684010.1:n.3172G>A
ENST00000684157.1:n.3177G>A
ENST00000684253.1:n.3080G>A
ENST00000684288.1:c.*1280G>A ENSP00000507143.1:n.*1280G>A
ENST00000684313.1:n.2609G>A
ENST00000684332.1:n.3250G>A
ENST00000684371.1:n.3283G>A
ENST00000684404.1:n.3220G>A
ENST00000684442.1:n.3177G>A
ENST00000684555.1:c.*1320G>A ENSP00000507705.1:n.*1320G>A
ENST00000684571.1:c.2949G>A ENSP00000506935.1:p.Trp983Ter
ENST00000684593.1:c.*2813G>A ENSP00000507005.1:n.*2813G>A
ENST00000684711.1:c.*1504G>A ENSP00000506841.1:n.*1504G>A
ENST00000302539.9:c.3111G>A ENSP00000303960.4:p.Trp1037Ter
ENST00000389817.8:c.3108G>A MANE Select ENSP00000374467.4:p.Trp1036Ter
ENST00000642271.1:c.3105G>A ENSP00000493749.1:p.Trp1035Ter
ENST00000642579.1:c.1192G>A
ENST00000642611.1:n.3062G>A
ENST00000642902.1:c.2890G>A
ENST00000643260.1:c.3108G>A ENSP00000494450.1:p.Trp1036Ter
ENST00000643562.1:c.*1084G>A ENSP00000496124.1:n.*1084G>A
ENST00000643925.1:c.1232G>A
ENST00000644447.1:c.1464G>A ENSP00000496282.1:p.Trp488Ter
ENST00000644484.1:c.*1363G>A ENSP00000493558.1:n.*1363G>A
ENST00000644542.1:c.*2813G>A ENSP00000495532.1:n.*2813G>A
ENST00000644675.1:c.*1280G>A ENSP00000494567.1:n.*1280G>A
ENST00000644757.1:c.*1393G>A ENSP00000495085.1:n.*1393G>A
ENST00000644772.1:c.3174G>A ENSP00000494321.1:p.Trp1058Ter
ENST00000645004.1:n.247G>A
ENST00000645076.1:c.2307G>A
ENST00000645417.1:c.274G>A
ENST00000645744.1:c.*1372G>A ENSP00000494564.1:n.*1372G>A
ENST00000645760.1:c.3383G>A
ENST00000645884.1:c.*245G>A ENSP00000495516.1:n.*245G>A
ENST00000646003.1:c.*1064G>A ENSP00000495259.1:n.*1064G>A
ENST00000646207.1:c.*1575G>A ENSP00000495025.1:n.*1575G>A
ENST00000646276.1:c.*1381G>A ENSP00000496070.1:n.*1381G>A
ENST00000646592.1:c.2414G>A
ENST00000646902.1:c.3105G>A ENSP00000494101.1:p.Trp1035Ter
ENST00000646993.1:c.*1504G>A ENSP00000493720.1:n.*1504G>A
ENST00000647013.1:c.3114G>A ENSP00000496741.1:n.3114G>A
ENST00000647015.1:c.2859G>A ENSP00000495389.1:p.Trp953Ter
ENST00000647086.1:c.*2838G>A ENSP00000493677.1:n.*2838G>A
ENST00000647158.1:c.*1249G>A ENSP00000495744.1:n.*1249G>A
ENST00000302539.8:c.3111G>A ENSP00000303960.4:p.Trp1037Ter
ENST00000389817.7:c.3108G>A ENSP00000374467.3:p.Trp1036Ter
ENST00000524561.1:n.240G>A
ENST00000526921.5:n.792G>A
ENST00000527905.5:c.2978G>A ENSP00000431653.1:p.Gly993Glu
ENST00000529967.5:n.777G>A
NM_000352.4:c.3108G>A NP_000343.2:p.Trp1036Ter
NM_001287174.1:c.3111G>A NP_001274103.1:p.Trp1037Ter
XM_011520331.1:c.3108G>A XP_011518633.1:p.Trp1036Ter
XM_011520332.1:c.3111G>A XP_011518634.1:p.Trp1037Ter
XM_011520333.1:c.1608G>A XP_011518635.1:p.Trp536Ter
XR_930890.1:n.3174G>A
XR_930891.1:n.3174G>A
XR_930892.1:n.3074G>A
XR_930893.1:n.3071G>A
NM_001351295.1:c.3174G>A NP_001338224.1:p.Trp1058Ter
NM_001351296.1:c.3108G>A NP_001338225.1:p.Trp1036Ter
NM_001351297.1:c.3105G>A NP_001338226.1:p.Trp1035Ter
NR_147094.1:n.3257G>A
XM_017018197.2:c.3177G>A XP_016873686.1:p.Trp1059Ter
XM_017018199.1:c.3174G>A XP_016873688.1:p.Trp1058Ter
XM_017018201.2:c.3177G>A XP_016873690.1:p.Trp1059Ter
XM_017018202.1:c.1674G>A XP_016873691.1:p.Trp558Ter
XM_017018204.1:c.1065G>A XP_016873693.1:p.Trp355Ter
XM_024448668.1:c.1476G>A XP_024304436.1:p.Trp492Ter
XR_001747945.2:n.3249G>A
XR_001747946.2:n.3180G>A
XR_002957189.1:n.3329G>A
NM_000352.6:c.3108G>A MANE Select NP_000343.2:p.Trp1036Ter
NM_001287174.2:c.3111G>A NP_001274103.1:p.Trp1037Ter
NM_001351295.2:c.3174G>A NP_001338224.1:p.Trp1058Ter
NM_001351296.2:c.3108G>A NP_001338225.1:p.Trp1036Ter
NM_001351297.2:c.3105G>A NP_001338226.1:p.Trp1035Ter
NR_147094.2:n.3257G>A
NM_001287174.3:c.3111G>A NP_001274103.1:p.Trp1037Ter