Canonical Allele Identifier: CA379780756
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393020A>C , CM000673.2:g.17393020A>C GRCh38
NC_000011.9:g.17414567A>C , CM000673.1:g.17414567A>C GRCh37
NC_000011.8:g.17371143A>C NCBI36
NG_008867.1:g.88883T>G
NG_012446.1:g.640T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4318T>G
ENST00000526037.6:n.652T>G
ENST00000528374.2:c.1308T>G
ENST00000529967.6:n.3056T>G
ENST00000532220.2:n.3950T>G
ENST00000642611.2:n.6050T>G
ENST00000644057.2:n.1293T>G
ENST00000645004.2:n.2216T>G
ENST00000682051.1:n.4879T>G
ENST00000682110.1:n.4932T>G
ENST00000682140.1:c.*503T>G ENSP00000507829.1:n.*503T>G
ENST00000682185.1:n.6022T>G
ENST00000682204.1:c.*2855T>G ENSP00000507094.1:n.*2855T>G
ENST00000682215.1:n.5299T>G
ENST00000682288.1:c.*3148T>G ENSP00000507506.1:n.*3148T>G
ENST00000682442.1:n.5152T>G
ENST00000682528.1:n.5009T>G
ENST00000682673.1:n.4876T>G
ENST00000682805.1:n.5337T>G
ENST00000682965.1:c.*1139T>G ENSP00000508229.1:n.*1139T>G
ENST00000683093.1:n.5912T>G
ENST00000683136.1:c.4600T>G ENSP00000507768.1:p.Phe1534Val
ENST00000683153.1:n.4974T>G
ENST00000683365.1:n.5034T>G
ENST00000683377.1:n.4828T>G
ENST00000683456.1:c.*1854T>G ENSP00000508318.1:n.*1854T>G
ENST00000683522.1:n.5014T>G
ENST00000683562.1:c.*2782T>G ENSP00000508265.1:n.*2782T>G
ENST00000683693.1:n.6393T>G
ENST00000683725.1:c.*182T>G ENSP00000507496.1:n.*182T>G
ENST00000684010.1:n.4927T>G
ENST00000684014.1:n.904T>G
ENST00000684157.1:n.5917T>G
ENST00000684253.1:n.4835T>G
ENST00000684288.1:c.*2889T>G ENSP00000507143.1:n.*2889T>G
ENST00000684313.1:n.4364T>G
ENST00000684332.1:n.5005T>G
ENST00000684371.1:n.5038T>G
ENST00000684404.1:n.5960T>G
ENST00000684442.1:n.5156T>G
ENST00000684555.1:c.*2929T>G ENSP00000507705.1:n.*2929T>G
ENST00000684571.1:c.4558T>G ENSP00000506935.1:p.Phe1520Val
ENST00000684593.1:c.*4422T>G ENSP00000507005.1:n.*4422T>G
ENST00000684711.1:c.*3113T>G ENSP00000506841.1:n.*3113T>G
ENST00000302539.9:c.4720T>G ENSP00000303960.4:p.Phe1574Val
ENST00000389817.8:c.4717T>G MANE Select ENSP00000374467.4:p.Phe1573Val
ENST00000642271.1:c.4714T>G ENSP00000493749.1:p.Phe1572Val
ENST00000642579.1:c.2771T>G
ENST00000642611.1:n.5935T>G
ENST00000642902.1:c.4499T>G
ENST00000643260.1:c.4717T>G ENSP00000494450.1:p.Phe1573Val
ENST00000643562.1:c.*2839T>G ENSP00000496124.1:n.*2839T>G
ENST00000643925.1:c.3294T>G
ENST00000644057.1:n.876T>G
ENST00000644484.1:c.*4103T>G ENSP00000493558.1:n.*4103T>G
ENST00000644675.1:c.*2889T>G ENSP00000494567.1:n.*2889T>G
ENST00000644757.1:c.*3203-40T>G ENSP00000495085.1:n.*3203-40T>G
ENST00000644772.1:c.4783T>G ENSP00000494321.1:p.Phe1595Val
ENST00000645004.1:n.2410T>G
ENST00000645076.1:c.3812T>G
ENST00000645760.1:c.5138T>G
ENST00000645884.1:c.*2000T>G ENSP00000495516.1:n.*2000T>G
ENST00000646003.1:c.*2739T>G ENSP00000495259.1:n.*2739T>G
ENST00000646207.1:c.*3554T>G ENSP00000495025.1:n.*3554T>G
ENST00000646592.1:c.4023T>G
ENST00000646902.1:c.4684T>G ENSP00000494101.1:p.Phe1562Val
ENST00000646993.1:c.*3155T>G ENSP00000493720.1:n.*3155T>G
ENST00000647015.1:c.4468T>G ENSP00000495389.1:p.Phe1490Val
ENST00000647086.1:c.*4303T>G ENSP00000493677.1:n.*4303T>G
ENST00000302539.8:c.4720T>G ENSP00000303960.4:p.Phe1574Val
ENST00000389817.7:c.4717T>G ENSP00000374467.3:p.Phe1573Val
ENST00000526037.5:n.477T>G
ENST00000526168.5:c.505T>G
ENST00000531642.5:c.748T>G
NM_000352.4:c.4717T>G NP_000343.2:p.Phe1573Val
NM_001287174.1:c.4720T>G NP_001274103.1:p.Phe1574Val
XM_011520331.1:c.4717T>G XP_011518633.1:p.Phe1573Val
XM_011520333.1:c.3217T>G XP_011518635.1:p.Phe1073Val
XR_930890.1:n.4679T>G
NM_001351295.1:c.4783T>G NP_001338224.1:p.Phe1595Val
NM_001351296.1:c.4717T>G NP_001338225.1:p.Phe1573Val
NM_001351297.1:c.4714T>G NP_001338226.1:p.Phe1572Val
NR_147094.1:n.5012T>G
XM_017018197.2:c.4786T>G XP_016873686.1:p.Phe1596Val
XM_017018199.1:c.4783T>G XP_016873688.1:p.Phe1595Val
XM_017018202.1:c.3283T>G XP_016873691.1:p.Phe1095Val
XM_017018204.1:c.2674T>G XP_016873693.1:p.Phe892Val
XM_024448668.1:c.3085T>G XP_024304436.1:p.Phe1029Val
XR_001747945.2:n.4754T>G
XR_001747946.2:n.4685T>G
XR_002957189.1:n.6468T>G
NM_000352.6:c.4717T>G MANE Select NP_000343.2:p.Phe1573Val
NM_001287174.2:c.4720T>G NP_001274103.1:p.Phe1574Val
NM_001351295.2:c.4783T>G NP_001338224.1:p.Phe1595Val
NM_001351296.2:c.4717T>G NP_001338225.1:p.Phe1573Val
NM_001351297.2:c.4714T>G NP_001338226.1:p.Phe1572Val
NR_147094.2:n.5012T>G
NM_001287174.3:c.4720T>G NP_001274103.1:p.Phe1574Val