Canonical Allele Identifier: CA379790767
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 549539
dbSNP Id: rs1554905775

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396992T>C , CM000673.2:g.17396992T>C GRCh38
NC_000011.9:g.17418539T>C , CM000673.1:g.17418539T>C GRCh37
NC_000011.8:g.17375115T>C NCBI36
NG_008867.1:g.84911A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3644A>G
ENST00000528374.2:c.634A>G
ENST00000529967.6:n.2382A>G
ENST00000532220.2:n.2291A>G
ENST00000642611.2:n.4258A>G
ENST00000644057.2:n.486A>G
ENST00000645004.2:n.1542A>G
ENST00000682051.1:n.4205A>G
ENST00000682110.1:n.4258A>G
ENST00000682140.1:c.3985+201A>G ENSP00000507829.1:n.3985+201A>G
ENST00000682185.1:n.5348A>G
ENST00000682204.1:c.*2181A>G ENSP00000507094.1:n.*2181A>G
ENST00000682215.1:n.4625A>G
ENST00000682288.1:c.*2474A>G ENSP00000507506.1:n.*2474A>G
ENST00000682442.1:n.4478A>G
ENST00000682528.1:n.4335A>G
ENST00000682673.1:n.4202A>G
ENST00000682805.1:n.4625A>G
ENST00000682965.1:c.*465A>G ENSP00000508229.1:n.*465A>G
ENST00000683093.1:n.4357A>G
ENST00000683136.1:c.3926A>G ENSP00000507768.1:p.Asn1309Ser
ENST00000683153.1:n.4300A>G
ENST00000683365.1:n.4360A>G
ENST00000683377.1:n.4258A>G
ENST00000683456.1:c.*1180A>G ENSP00000508318.1:n.*1180A>G
ENST00000683522.1:n.4258A>G
ENST00000683562.1:c.*2212A>G ENSP00000508265.1:n.*2212A>G
ENST00000683693.1:n.4705A>G
ENST00000683725.1:c.4043A>G ENSP00000507496.1:p.Asn1348Ser
ENST00000684010.1:n.4253A>G
ENST00000684157.1:n.4258A>G
ENST00000684253.1:n.4161A>G
ENST00000684288.1:c.*2215A>G ENSP00000507143.1:n.*2215A>G
ENST00000684313.1:n.3690A>G
ENST00000684332.1:n.4331A>G
ENST00000684371.1:n.4364A>G
ENST00000684404.1:n.4301A>G
ENST00000684442.1:n.4482A>G
ENST00000684555.1:c.*2255A>G ENSP00000507705.1:n.*2255A>G
ENST00000684571.1:c.3884A>G ENSP00000506935.1:p.Asn1295Ser
ENST00000684593.1:c.*3748A>G ENSP00000507005.1:n.*3748A>G
ENST00000684711.1:c.*2439A>G ENSP00000506841.1:n.*2439A>G
ENST00000302539.9:c.4046A>G ENSP00000303960.4:p.Asn1349Ser
ENST00000389817.8:c.4043A>G MANE Select ENSP00000374467.4:p.Asn1348Ser
ENST00000642271.1:c.4040A>G ENSP00000493749.1:p.Asn1347Ser
ENST00000642579.1:c.2097A>G
ENST00000642611.1:n.4143A>G
ENST00000642902.1:c.3825A>G
ENST00000643260.1:c.4043A>G ENSP00000494450.1:p.Asn1348Ser
ENST00000643562.1:c.*2165A>G ENSP00000496124.1:n.*2165A>G
ENST00000643925.1:c.2683A>G
ENST00000644057.1:n.120A>G
ENST00000644484.1:c.*2444A>G ENSP00000493558.1:n.*2444A>G
ENST00000644675.1:c.*2215A>G ENSP00000494567.1:n.*2215A>G
ENST00000644757.1:c.*2474A>G ENSP00000495085.1:n.*2474A>G
ENST00000644772.1:c.4109A>G ENSP00000494321.1:p.Asn1370Ser
ENST00000645004.1:n.1698A>G
ENST00000645076.1:c.3242A>G
ENST00000645417.1:c.1231A>G
ENST00000645744.1:c.*2823A>G ENSP00000494564.1:n.*2823A>G
ENST00000645760.1:c.4464A>G
ENST00000645884.1:c.*1326A>G ENSP00000495516.1:n.*1326A>G
ENST00000646003.1:c.*2145A>G ENSP00000495259.1:n.*2145A>G
ENST00000646207.1:c.*2880A>G ENSP00000495025.1:n.*2880A>G
ENST00000646276.1:c.*2462A>G ENSP00000496070.1:n.*2462A>G
ENST00000646592.1:c.3349A>G
ENST00000646902.1:c.4010A>G ENSP00000494101.1:p.Asn1337Ser
ENST00000646993.1:c.*2585A>G ENSP00000493720.1:n.*2585A>G
ENST00000647013.1:c.4049A>G ENSP00000496741.1:n.4049A>G
ENST00000647015.1:c.3794A>G ENSP00000495389.1:p.Asn1265Ser
ENST00000647086.1:c.*3629A>G ENSP00000493677.1:n.*3629A>G
ENST00000647158.1:c.*2330A>G ENSP00000495744.1:n.*2330A>G
ENST00000302539.8:c.4046A>G ENSP00000303960.4:p.Asn1349Ser
ENST00000389817.7:c.4043A>G ENSP00000374467.3:p.Asn1348Ser
ENST00000527905.5:c.*1065A>G ENSP00000431653.1:n.*1065A>G
ENST00000528374.1:c.525A>G
ENST00000531137.1:n.608A>G
ENST00000531891.1:c.381A>G
ENST00000532220.1:n.517A>G
NM_000352.4:c.4043A>G NP_000343.2:p.Asn1348Ser
NM_001287174.1:c.4046A>G NP_001274103.1:p.Asn1349Ser
XM_011520331.1:c.4043A>G XP_011518633.1:p.Asn1348Ser
XM_011520332.1:c.4046A>G XP_011518634.1:p.Asn1349Ser
XM_011520333.1:c.2543A>G XP_011518635.1:p.Asn848Ser
XR_930890.1:n.4109A>G
NM_001351295.1:c.4109A>G NP_001338224.1:p.Asn1370Ser
NM_001351296.1:c.4043A>G NP_001338225.1:p.Asn1348Ser
NM_001351297.1:c.4040A>G NP_001338226.1:p.Asn1347Ser
NR_147094.1:n.4338A>G
XM_017018197.2:c.4112A>G XP_016873686.1:p.Asn1371Ser
XM_017018199.1:c.4109A>G XP_016873688.1:p.Asn1370Ser
XM_017018201.2:c.4112A>G XP_016873690.1:p.Asn1371Ser
XM_017018202.1:c.2609A>G XP_016873691.1:p.Asn870Ser
XM_017018204.1:c.2000A>G XP_016873693.1:p.Asn667Ser
XM_024448668.1:c.2411A>G XP_024304436.1:p.Asn804Ser
XR_001747945.2:n.4184A>G
XR_001747946.2:n.4115A>G
XR_002957189.1:n.4780A>G
NM_000352.6:c.4043A>G MANE Select NP_000343.2:p.Asn1348Ser
NM_001287174.2:c.4046A>G NP_001274103.1:p.Asn1349Ser
NM_001351295.2:c.4109A>G NP_001338224.1:p.Asn1370Ser
NM_001351296.2:c.4043A>G NP_001338225.1:p.Asn1348Ser
NM_001351297.2:c.4040A>G NP_001338226.1:p.Asn1347Ser
NR_147094.2:n.4338A>G
NM_001287174.3:c.4046A>G NP_001274103.1:p.Asn1349Ser