Canonical Allele Identifier: CA379781069
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393061A>T , CM000673.2:g.17393061A>T GRCh38
NC_000011.9:g.17414608A>T , CM000673.1:g.17414608A>T GRCh37
NC_000011.8:g.17371184A>T NCBI36
NG_008867.1:g.88842T>A
NG_012446.1:g.599T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4277T>A
ENST00000526037.6:n.611T>A
ENST00000528374.2:c.1267T>A
ENST00000529967.6:n.3015T>A
ENST00000532220.2:n.3909T>A
ENST00000642611.2:n.6009T>A
ENST00000644057.2:n.1252T>A
ENST00000645004.2:n.2175T>A
ENST00000682051.1:n.4838T>A
ENST00000682110.1:n.4891T>A
ENST00000682140.1:c.*462T>A ENSP00000507829.1:n.*462T>A
ENST00000682185.1:n.5981T>A
ENST00000682204.1:c.*2814T>A ENSP00000507094.1:n.*2814T>A
ENST00000682215.1:n.5258T>A
ENST00000682288.1:c.*3107T>A ENSP00000507506.1:n.*3107T>A
ENST00000682442.1:n.5111T>A
ENST00000682528.1:n.4968T>A
ENST00000682673.1:n.4835T>A
ENST00000682805.1:n.5296T>A
ENST00000682965.1:c.*1098T>A ENSP00000508229.1:n.*1098T>A
ENST00000683093.1:n.5871T>A
ENST00000683136.1:c.4559T>A ENSP00000507768.1:p.Phe1520Tyr
ENST00000683153.1:n.4933T>A
ENST00000683365.1:n.4993T>A
ENST00000683377.1:n.4787T>A
ENST00000683456.1:c.*1813T>A ENSP00000508318.1:n.*1813T>A
ENST00000683522.1:n.4973T>A
ENST00000683562.1:c.*2741T>A ENSP00000508265.1:n.*2741T>A
ENST00000683693.1:n.6352T>A
ENST00000683725.1:c.*141T>A ENSP00000507496.1:n.*141T>A
ENST00000684010.1:n.4886T>A
ENST00000684014.1:n.863T>A
ENST00000684157.1:n.5876T>A
ENST00000684253.1:n.4794T>A
ENST00000684288.1:c.*2848T>A ENSP00000507143.1:n.*2848T>A
ENST00000684313.1:n.4323T>A
ENST00000684332.1:n.4964T>A
ENST00000684371.1:n.4997T>A
ENST00000684404.1:n.5919T>A
ENST00000684442.1:n.5115T>A
ENST00000684555.1:c.*2888T>A ENSP00000507705.1:n.*2888T>A
ENST00000684571.1:c.4517T>A ENSP00000506935.1:p.Phe1506Tyr
ENST00000684593.1:c.*4381T>A ENSP00000507005.1:n.*4381T>A
ENST00000684711.1:c.*3072T>A ENSP00000506841.1:n.*3072T>A
ENST00000302539.9:c.4679T>A ENSP00000303960.4:p.Phe1560Tyr
ENST00000389817.8:c.4676T>A MANE Select ENSP00000374467.4:p.Phe1559Tyr
ENST00000642271.1:c.4673T>A ENSP00000493749.1:p.Phe1558Tyr
ENST00000642579.1:c.2730T>A
ENST00000642611.1:n.5894T>A
ENST00000642902.1:c.4458T>A
ENST00000643260.1:c.4676T>A ENSP00000494450.1:p.Phe1559Tyr
ENST00000643562.1:c.*2798T>A ENSP00000496124.1:n.*2798T>A
ENST00000643925.1:c.3253T>A
ENST00000644057.1:n.835T>A
ENST00000644484.1:c.*4062T>A ENSP00000493558.1:n.*4062T>A
ENST00000644675.1:c.*2848T>A ENSP00000494567.1:n.*2848T>A
ENST00000644757.1:c.*3203-81T>A ENSP00000495085.1:n.*3203-81T>A
ENST00000644772.1:c.4742T>A ENSP00000494321.1:p.Phe1581Tyr
ENST00000645004.1:n.2369T>A
ENST00000645076.1:c.3771T>A
ENST00000645760.1:c.5097T>A
ENST00000645884.1:c.*1959T>A ENSP00000495516.1:n.*1959T>A
ENST00000646003.1:c.*2698T>A ENSP00000495259.1:n.*2698T>A
ENST00000646207.1:c.*3513T>A ENSP00000495025.1:n.*3513T>A
ENST00000646592.1:c.3982T>A
ENST00000646902.1:c.4643T>A ENSP00000494101.1:p.Phe1548Tyr
ENST00000646993.1:c.*3114T>A ENSP00000493720.1:n.*3114T>A
ENST00000647015.1:c.4427T>A ENSP00000495389.1:p.Phe1476Tyr
ENST00000647086.1:c.*4262T>A ENSP00000493677.1:n.*4262T>A
ENST00000302539.8:c.4679T>A ENSP00000303960.4:p.Phe1560Tyr
ENST00000389817.7:c.4676T>A ENSP00000374467.3:p.Phe1559Tyr
ENST00000525022.1:n.655T>A
ENST00000526037.5:n.436T>A
ENST00000526168.5:c.464T>A
ENST00000531642.5:c.707T>A
NM_000352.4:c.4676T>A NP_000343.2:p.Phe1559Tyr
NM_001287174.1:c.4679T>A NP_001274103.1:p.Phe1560Tyr
XM_011520331.1:c.4676T>A XP_011518633.1:p.Phe1559Tyr
XM_011520333.1:c.3176T>A XP_011518635.1:p.Phe1059Tyr
XR_930890.1:n.4638T>A
NM_001351295.1:c.4742T>A NP_001338224.1:p.Phe1581Tyr
NM_001351296.1:c.4676T>A NP_001338225.1:p.Phe1559Tyr
NM_001351297.1:c.4673T>A NP_001338226.1:p.Phe1558Tyr
NR_147094.1:n.4971T>A
XM_017018197.2:c.4745T>A XP_016873686.1:p.Phe1582Tyr
XM_017018199.1:c.4742T>A XP_016873688.1:p.Phe1581Tyr
XM_017018202.1:c.3242T>A XP_016873691.1:p.Phe1081Tyr
XM_017018204.1:c.2633T>A XP_016873693.1:p.Phe878Tyr
XM_024448668.1:c.3044T>A XP_024304436.1:p.Phe1015Tyr
XR_001747945.2:n.4713T>A
XR_001747946.2:n.4644T>A
XR_002957189.1:n.6427T>A
NM_000352.6:c.4676T>A MANE Select NP_000343.2:p.Phe1559Tyr
NM_001287174.2:c.4679T>A NP_001274103.1:p.Phe1560Tyr
NM_001351295.2:c.4742T>A NP_001338224.1:p.Phe1581Tyr
NM_001351296.2:c.4676T>A NP_001338225.1:p.Phe1559Tyr
NM_001351297.2:c.4673T>A NP_001338226.1:p.Phe1558Tyr
NR_147094.2:n.4971T>A
NM_001287174.3:c.4679T>A NP_001274103.1:p.Phe1560Tyr