Canonical Allele Identifier: CA379791178
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397028T>C , CM000673.2:g.17397028T>C GRCh38
NC_000011.9:g.17418575T>C , CM000673.1:g.17418575T>C GRCh37
NC_000011.8:g.17375151T>C NCBI36
NG_008867.1:g.84875A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3608A>G
ENST00000528374.2:c.598A>G
ENST00000529967.6:n.2346A>G
ENST00000532220.2:n.2255A>G
ENST00000642611.2:n.4222A>G
ENST00000644057.2:n.450A>G
ENST00000645004.2:n.1506A>G
ENST00000682051.1:n.4169A>G
ENST00000682110.1:n.4222A>G
ENST00000682140.1:c.3985+165A>G ENSP00000507829.1:n.3985+165A>G
ENST00000682185.1:n.5312A>G
ENST00000682204.1:c.*2145A>G ENSP00000507094.1:n.*2145A>G
ENST00000682215.1:n.4589A>G
ENST00000682288.1:c.*2438A>G ENSP00000507506.1:n.*2438A>G
ENST00000682442.1:n.4442A>G
ENST00000682528.1:n.4299A>G
ENST00000682673.1:n.4166A>G
ENST00000682805.1:n.4589A>G
ENST00000682965.1:c.*429A>G ENSP00000508229.1:n.*429A>G
ENST00000683093.1:n.4321A>G
ENST00000683136.1:c.3890A>G ENSP00000507768.1:p.Lys1297Arg
ENST00000683153.1:n.4264A>G
ENST00000683365.1:n.4324A>G
ENST00000683377.1:n.4222A>G
ENST00000683456.1:c.*1144A>G ENSP00000508318.1:n.*1144A>G
ENST00000683522.1:n.4222A>G
ENST00000683562.1:c.*2176A>G ENSP00000508265.1:n.*2176A>G
ENST00000683693.1:n.4669A>G
ENST00000683725.1:c.4007A>G ENSP00000507496.1:p.Lys1336Arg
ENST00000684010.1:n.4217A>G
ENST00000684157.1:n.4222A>G
ENST00000684253.1:n.4125A>G
ENST00000684288.1:c.*2179A>G ENSP00000507143.1:n.*2179A>G
ENST00000684313.1:n.3654A>G
ENST00000684332.1:n.4295A>G
ENST00000684371.1:n.4328A>G
ENST00000684404.1:n.4265A>G
ENST00000684442.1:n.4446A>G
ENST00000684555.1:c.*2219A>G ENSP00000507705.1:n.*2219A>G
ENST00000684571.1:c.3848A>G ENSP00000506935.1:p.Lys1283Arg
ENST00000684593.1:c.*3712A>G ENSP00000507005.1:n.*3712A>G
ENST00000684711.1:c.*2403A>G ENSP00000506841.1:n.*2403A>G
ENST00000302539.9:c.4010A>G ENSP00000303960.4:p.Lys1337Arg
ENST00000389817.8:c.4007A>G MANE Select ENSP00000374467.4:p.Lys1336Arg
ENST00000642271.1:c.4004A>G ENSP00000493749.1:p.Lys1335Arg
ENST00000642579.1:c.2073-12A>G
ENST00000642611.1:n.4107A>G
ENST00000642902.1:c.3789A>G
ENST00000643260.1:c.4007A>G ENSP00000494450.1:p.Lys1336Arg
ENST00000643562.1:c.*2129A>G ENSP00000496124.1:n.*2129A>G
ENST00000643925.1:c.2647A>G
ENST00000644057.1:n.84A>G
ENST00000644484.1:c.*2408A>G ENSP00000493558.1:n.*2408A>G
ENST00000644675.1:c.*2179A>G ENSP00000494567.1:n.*2179A>G
ENST00000644757.1:c.*2438A>G ENSP00000495085.1:n.*2438A>G
ENST00000644772.1:c.4073A>G ENSP00000494321.1:p.Lys1358Arg
ENST00000645004.1:n.1662A>G
ENST00000645076.1:c.3206A>G
ENST00000645417.1:c.1195A>G
ENST00000645744.1:c.*2787A>G ENSP00000494564.1:n.*2787A>G
ENST00000645760.1:c.4428A>G
ENST00000645884.1:c.*1290A>G ENSP00000495516.1:n.*1290A>G
ENST00000646003.1:c.*2109A>G ENSP00000495259.1:n.*2109A>G
ENST00000646207.1:c.*2844A>G ENSP00000495025.1:n.*2844A>G
ENST00000646276.1:c.*2426A>G ENSP00000496070.1:n.*2426A>G
ENST00000646592.1:c.3313A>G
ENST00000646902.1:c.3986-12A>G ENSP00000494101.1:n.3986-12A>G
ENST00000646993.1:c.*2549A>G ENSP00000493720.1:n.*2549A>G
ENST00000647013.1:c.4013A>G ENSP00000496741.1:n.4013A>G
ENST00000647015.1:c.3758A>G ENSP00000495389.1:p.Lys1253Arg
ENST00000647086.1:c.*3605-12A>G ENSP00000493677.1:n.*3605-12A>G
ENST00000647158.1:c.*2294A>G ENSP00000495744.1:n.*2294A>G
ENST00000302539.8:c.4010A>G ENSP00000303960.4:p.Lys1337Arg
ENST00000389817.7:c.4007A>G ENSP00000374467.3:p.Lys1336Arg
ENST00000527905.5:c.*1029A>G ENSP00000431653.1:n.*1029A>G
ENST00000528374.1:c.489A>G
ENST00000531137.1:n.572A>G
ENST00000531891.1:c.357-12A>G
ENST00000532220.1:n.481A>G
NM_000352.4:c.4007A>G NP_000343.2:p.Lys1336Arg
NM_001287174.1:c.4010A>G NP_001274103.1:p.Lys1337Arg
XM_011520331.1:c.4007A>G XP_011518633.1:p.Lys1336Arg
XM_011520332.1:c.4010A>G XP_011518634.1:p.Lys1337Arg
XM_011520333.1:c.2507A>G XP_011518635.1:p.Lys836Arg
XR_930890.1:n.4073A>G
NM_001351295.1:c.4073A>G NP_001338224.1:p.Lys1358Arg
NM_001351296.1:c.4007A>G NP_001338225.1:p.Lys1336Arg
NM_001351297.1:c.4004A>G NP_001338226.1:p.Lys1335Arg
NR_147094.1:n.4302A>G
XM_017018197.2:c.4076A>G XP_016873686.1:p.Lys1359Arg
XM_017018199.1:c.4073A>G XP_016873688.1:p.Lys1358Arg
XM_017018201.2:c.4076A>G XP_016873690.1:p.Lys1359Arg
XM_017018202.1:c.2573A>G XP_016873691.1:p.Lys858Arg
XM_017018204.1:c.1964A>G XP_016873693.1:p.Lys655Arg
XM_024448668.1:c.2375A>G XP_024304436.1:p.Lys792Arg
XR_001747945.2:n.4148A>G
XR_001747946.2:n.4079A>G
XR_002957189.1:n.4744A>G
NM_000352.6:c.4007A>G MANE Select NP_000343.2:p.Lys1336Arg
NM_001287174.2:c.4010A>G NP_001274103.1:p.Lys1337Arg
NM_001351295.2:c.4073A>G NP_001338224.1:p.Lys1358Arg
NM_001351296.2:c.4007A>G NP_001338225.1:p.Lys1336Arg
NM_001351297.2:c.4004A>G NP_001338226.1:p.Lys1335Arg
NR_147094.2:n.4302A>G
NM_001287174.3:c.4010A>G NP_001274103.1:p.Lys1337Arg