Canonical Allele Identifier: CA379790632
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454413
ClinVar RCV Id: RCV001941862
dbSNP Id: rs374602183

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396976G>T , CM000673.2:g.17396976G>T GRCh38
NC_000011.9:g.17418523G>T , CM000673.1:g.17418523G>T GRCh37
NC_000011.8:g.17375099G>T NCBI36
NG_008867.1:g.84927C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3660C>A
ENST00000528374.2:c.650C>A
ENST00000529967.6:n.2398C>A
ENST00000532220.2:n.2307C>A
ENST00000642611.2:n.4274C>A
ENST00000644057.2:n.502C>A
ENST00000645004.2:n.1558C>A
ENST00000682051.1:n.4221C>A
ENST00000682110.1:n.4274C>A
ENST00000682140.1:c.3985+217C>A ENSP00000507829.1:n.3985+217C>A
ENST00000682185.1:n.5364C>A
ENST00000682204.1:c.*2197C>A ENSP00000507094.1:n.*2197C>A
ENST00000682215.1:n.4641C>A
ENST00000682288.1:c.*2490C>A ENSP00000507506.1:n.*2490C>A
ENST00000682442.1:n.4494C>A
ENST00000682528.1:n.4351C>A
ENST00000682673.1:n.4218C>A
ENST00000682805.1:n.4641C>A
ENST00000682965.1:c.*481C>A ENSP00000508229.1:n.*481C>A
ENST00000683093.1:n.4373C>A
ENST00000683136.1:c.3942C>A ENSP00000507768.1:p.Tyr1314Ter
ENST00000683153.1:n.4316C>A
ENST00000683365.1:n.4376C>A
ENST00000683377.1:n.4274C>A
ENST00000683456.1:c.*1196C>A ENSP00000508318.1:n.*1196C>A
ENST00000683522.1:n.4274C>A
ENST00000683562.1:c.*2228C>A ENSP00000508265.1:n.*2228C>A
ENST00000683693.1:n.4721C>A
ENST00000683725.1:c.4059C>A ENSP00000507496.1:p.Tyr1353Ter
ENST00000684010.1:n.4269C>A
ENST00000684157.1:n.4274C>A
ENST00000684253.1:n.4177C>A
ENST00000684288.1:c.*2231C>A ENSP00000507143.1:n.*2231C>A
ENST00000684313.1:n.3706C>A
ENST00000684332.1:n.4347C>A
ENST00000684371.1:n.4380C>A
ENST00000684404.1:n.4317C>A
ENST00000684442.1:n.4498C>A
ENST00000684555.1:c.*2271C>A ENSP00000507705.1:n.*2271C>A
ENST00000684571.1:c.3900C>A ENSP00000506935.1:p.Tyr1300Ter
ENST00000684593.1:c.*3764C>A ENSP00000507005.1:n.*3764C>A
ENST00000684711.1:c.*2455C>A ENSP00000506841.1:n.*2455C>A
ENST00000302539.9:c.4062C>A ENSP00000303960.4:p.Tyr1354Ter
ENST00000389817.8:c.4059C>A MANE Select ENSP00000374467.4:p.Tyr1353Ter
ENST00000642271.1:c.4056C>A ENSP00000493749.1:p.Tyr1352Ter
ENST00000642579.1:c.2113C>A
ENST00000642611.1:n.4159C>A
ENST00000642902.1:c.3841C>A
ENST00000643260.1:c.4059C>A ENSP00000494450.1:p.Tyr1353Ter
ENST00000643562.1:c.*2181C>A ENSP00000496124.1:n.*2181C>A
ENST00000643925.1:c.2699C>A
ENST00000644057.1:n.136C>A
ENST00000644484.1:c.*2460C>A ENSP00000493558.1:n.*2460C>A
ENST00000644675.1:c.*2231C>A ENSP00000494567.1:n.*2231C>A
ENST00000644757.1:c.*2490C>A ENSP00000495085.1:n.*2490C>A
ENST00000644772.1:c.4125C>A ENSP00000494321.1:p.Tyr1375Ter
ENST00000645004.1:n.1714C>A
ENST00000645076.1:c.3258C>A
ENST00000645417.1:c.1247C>A
ENST00000645744.1:c.*2839C>A ENSP00000494564.1:n.*2839C>A
ENST00000645760.1:c.4480C>A
ENST00000645884.1:c.*1342C>A ENSP00000495516.1:n.*1342C>A
ENST00000646003.1:c.*2161C>A ENSP00000495259.1:n.*2161C>A
ENST00000646207.1:c.*2896C>A ENSP00000495025.1:n.*2896C>A
ENST00000646276.1:c.*2478C>A ENSP00000496070.1:n.*2478C>A
ENST00000646592.1:c.3365C>A
ENST00000646902.1:c.4026C>A ENSP00000494101.1:p.Tyr1342Ter
ENST00000646993.1:c.*2601C>A ENSP00000493720.1:n.*2601C>A
ENST00000647013.1:c.4065C>A ENSP00000496741.1:n.4065C>A
ENST00000647015.1:c.3810C>A ENSP00000495389.1:p.Tyr1270Ter
ENST00000647086.1:c.*3645C>A ENSP00000493677.1:n.*3645C>A
ENST00000647158.1:c.*2346C>A ENSP00000495744.1:n.*2346C>A
ENST00000302539.8:c.4062C>A ENSP00000303960.4:p.Tyr1354Ter
ENST00000389817.7:c.4059C>A ENSP00000374467.3:p.Tyr1353Ter
ENST00000527905.5:c.*1081C>A ENSP00000431653.1:n.*1081C>A
ENST00000528374.1:c.541C>A
ENST00000531137.1:n.624C>A
ENST00000531891.1:c.397C>A
ENST00000532220.1:n.533C>A
NM_000352.4:c.4059C>A NP_000343.2:p.Tyr1353Ter
NM_001287174.1:c.4062C>A NP_001274103.1:p.Tyr1354Ter
XM_011520331.1:c.4059C>A XP_011518633.1:p.Tyr1353Ter
XM_011520332.1:c.4062C>A XP_011518634.1:p.Tyr1354Ter
XM_011520333.1:c.2559C>A XP_011518635.1:p.Tyr853Ter
XR_930890.1:n.4125C>A
NM_001351295.1:c.4125C>A NP_001338224.1:p.Tyr1375Ter
NM_001351296.1:c.4059C>A NP_001338225.1:p.Tyr1353Ter
NM_001351297.1:c.4056C>A NP_001338226.1:p.Tyr1352Ter
NR_147094.1:n.4354C>A
XM_017018197.2:c.4128C>A XP_016873686.1:p.Tyr1376Ter
XM_017018199.1:c.4125C>A XP_016873688.1:p.Tyr1375Ter
XM_017018201.2:c.4128C>A XP_016873690.1:p.Tyr1376Ter
XM_017018202.1:c.2625C>A XP_016873691.1:p.Tyr875Ter
XM_017018204.1:c.2016C>A XP_016873693.1:p.Tyr672Ter
XM_024448668.1:c.2427C>A XP_024304436.1:p.Tyr809Ter
XR_001747945.2:n.4200C>A
XR_001747946.2:n.4131C>A
XR_002957189.1:n.4796C>A
NM_000352.6:c.4059C>A MANE Select NP_000343.2:p.Tyr1353Ter
NM_001287174.2:c.4062C>A NP_001274103.1:p.Tyr1354Ter
NM_001351295.2:c.4125C>A NP_001338224.1:p.Tyr1375Ter
NM_001351296.2:c.4059C>A NP_001338225.1:p.Tyr1353Ter
NM_001351297.2:c.4056C>A NP_001338226.1:p.Tyr1352Ter
NR_147094.2:n.4354C>A
NM_001287174.3:c.4062C>A NP_001274103.1:p.Tyr1354Ter