Canonical Allele Identifier: CA473297945
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1435281584

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393042C>T , CM000673.2:g.17393042C>T GRCh38
NC_000011.9:g.17414589C>T , CM000673.1:g.17414589C>T GRCh37
NC_000011.8:g.17371165C>T NCBI36
NG_008867.1:g.88861G>A
NG_012446.1:g.618G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4296G>A
ENST00000526037.6:n.630G>A
ENST00000528374.2:c.1286G>A
ENST00000529967.6:n.3034G>A
ENST00000532220.2:n.3928G>A
ENST00000642611.2:n.6028G>A
ENST00000644057.2:n.1271G>A
ENST00000645004.2:n.2194G>A
ENST00000682051.1:n.4857G>A
ENST00000682110.1:n.4910G>A
ENST00000682140.1:c.*481G>A ENSP00000507829.1:n.*481G>A
ENST00000682185.1:n.6000G>A
ENST00000682204.1:c.*2833G>A ENSP00000507094.1:n.*2833G>A
ENST00000682215.1:n.5277G>A
ENST00000682288.1:c.*3126G>A ENSP00000507506.1:n.*3126G>A
ENST00000682442.1:n.5130G>A
ENST00000682528.1:n.4987G>A
ENST00000682673.1:n.4854G>A
ENST00000682805.1:n.5315G>A
ENST00000682965.1:c.*1117G>A ENSP00000508229.1:n.*1117G>A
ENST00000683093.1:n.5890G>A
ENST00000683136.1:c.4578G>A ENSP00000507768.1:p.Leu1526=
ENST00000683153.1:n.4952G>A
ENST00000683365.1:n.5012G>A
ENST00000683377.1:n.4806G>A
ENST00000683456.1:c.*1832G>A ENSP00000508318.1:n.*1832G>A
ENST00000683522.1:n.4992G>A
ENST00000683562.1:c.*2760G>A ENSP00000508265.1:n.*2760G>A
ENST00000683693.1:n.6371G>A
ENST00000683725.1:c.*160G>A ENSP00000507496.1:n.*160G>A
ENST00000684010.1:n.4905G>A
ENST00000684014.1:n.882G>A
ENST00000684157.1:n.5895G>A
ENST00000684253.1:n.4813G>A
ENST00000684288.1:c.*2867G>A ENSP00000507143.1:n.*2867G>A
ENST00000684313.1:n.4342G>A
ENST00000684332.1:n.4983G>A
ENST00000684371.1:n.5016G>A
ENST00000684404.1:n.5938G>A
ENST00000684442.1:n.5134G>A
ENST00000684555.1:c.*2907G>A ENSP00000507705.1:n.*2907G>A
ENST00000684571.1:c.4536G>A ENSP00000506935.1:p.Leu1512=
ENST00000684593.1:c.*4400G>A ENSP00000507005.1:n.*4400G>A
ENST00000684711.1:c.*3091G>A ENSP00000506841.1:n.*3091G>A
ENST00000302539.9:c.4698G>A ENSP00000303960.4:p.Leu1566=
ENST00000389817.8:c.4695G>A MANE Select ENSP00000374467.4:p.Leu1565=
ENST00000642271.1:c.4692G>A ENSP00000493749.1:p.Leu1564=
ENST00000642579.1:c.2749G>A
ENST00000642611.1:n.5913G>A
ENST00000642902.1:c.4477G>A
ENST00000643260.1:c.4695G>A ENSP00000494450.1:p.Leu1565=
ENST00000643562.1:c.*2817G>A ENSP00000496124.1:n.*2817G>A
ENST00000643925.1:c.3272G>A
ENST00000644057.1:n.854G>A
ENST00000644484.1:c.*4081G>A ENSP00000493558.1:n.*4081G>A
ENST00000644675.1:c.*2867G>A ENSP00000494567.1:n.*2867G>A
ENST00000644757.1:c.*3203-62G>A ENSP00000495085.1:n.*3203-62G>A
ENST00000644772.1:c.4761G>A ENSP00000494321.1:p.Leu1587=
ENST00000645004.1:n.2388G>A
ENST00000645076.1:c.3790G>A
ENST00000645760.1:c.5116G>A
ENST00000645884.1:c.*1978G>A ENSP00000495516.1:n.*1978G>A
ENST00000646003.1:c.*2717G>A ENSP00000495259.1:n.*2717G>A
ENST00000646207.1:c.*3532G>A ENSP00000495025.1:n.*3532G>A
ENST00000646592.1:c.4001G>A
ENST00000646902.1:c.4662G>A ENSP00000494101.1:p.Leu1554=
ENST00000646993.1:c.*3133G>A ENSP00000493720.1:n.*3133G>A
ENST00000647015.1:c.4446G>A ENSP00000495389.1:p.Leu1482=
ENST00000647086.1:c.*4281G>A ENSP00000493677.1:n.*4281G>A
ENST00000302539.8:c.4698G>A ENSP00000303960.4:p.Leu1566=
ENST00000389817.7:c.4695G>A ENSP00000374467.3:p.Leu1565=
ENST00000525022.1:n.674G>A
ENST00000526037.5:n.455G>A
ENST00000526168.5:c.483G>A
ENST00000531642.5:c.726G>A
NM_000352.4:c.4695G>A NP_000343.2:p.Leu1565=
NM_001287174.1:c.4698G>A NP_001274103.1:p.Leu1566=
XM_011520331.1:c.4695G>A XP_011518633.1:p.Leu1565=
XM_011520333.1:c.3195G>A XP_011518635.1:p.Leu1065=
XR_930890.1:n.4657G>A
NM_001351295.1:c.4761G>A NP_001338224.1:p.Leu1587=
NM_001351296.1:c.4695G>A NP_001338225.1:p.Leu1565=
NM_001351297.1:c.4692G>A NP_001338226.1:p.Leu1564=
NR_147094.1:n.4990G>A
XM_017018197.2:c.4764G>A XP_016873686.1:p.Leu1588=
XM_017018199.1:c.4761G>A XP_016873688.1:p.Leu1587=
XM_017018202.1:c.3261G>A XP_016873691.1:p.Leu1087=
XM_017018204.1:c.2652G>A XP_016873693.1:p.Leu884=
XM_024448668.1:c.3063G>A XP_024304436.1:p.Leu1021=
XR_001747945.2:n.4732G>A
XR_001747946.2:n.4663G>A
XR_002957189.1:n.6446G>A
NM_000352.6:c.4695G>A MANE Select NP_000343.2:p.Leu1565=
NM_001287174.2:c.4698G>A NP_001274103.1:p.Leu1566=
NM_001351295.2:c.4761G>A NP_001338224.1:p.Leu1587=
NM_001351296.2:c.4695G>A NP_001338225.1:p.Leu1565=
NM_001351297.2:c.4692G>A NP_001338226.1:p.Leu1564=
NR_147094.2:n.4990G>A
NM_001287174.3:c.4698G>A NP_001274103.1:p.Leu1566=