Canonical Allele Identifier: CA379782056
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393731G>T , CM000673.2:g.17393731G>T GRCh38
NC_000011.9:g.17415278G>T , CM000673.1:g.17415278G>T GRCh37
NC_000011.8:g.17371854G>T NCBI36
NG_008867.1:g.88172C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4175C>A
ENST00000526037.6:n.509C>A
ENST00000528374.2:c.1165C>A
ENST00000529967.6:n.2913C>A
ENST00000532220.2:n.3807C>A
ENST00000642611.2:n.5907C>A
ENST00000644057.2:n.1150C>A
ENST00000645004.2:n.2073C>A
ENST00000682051.1:n.4736C>A
ENST00000682110.1:n.4789C>A
ENST00000682140.1:c.*360C>A ENSP00000507829.1:n.*360C>A
ENST00000682185.1:n.5879C>A
ENST00000682204.1:c.*2712C>A ENSP00000507094.1:n.*2712C>A
ENST00000682215.1:n.5156C>A
ENST00000682288.1:c.*3005C>A ENSP00000507506.1:n.*3005C>A
ENST00000682442.1:n.5009C>A
ENST00000682528.1:n.4866C>A
ENST00000682673.1:n.4733C>A
ENST00000682805.1:n.5194C>A
ENST00000682965.1:c.*996C>A ENSP00000508229.1:n.*996C>A
ENST00000683093.1:n.5769C>A
ENST00000683136.1:c.4457C>A ENSP00000507768.1:p.Thr1486Lys
ENST00000683153.1:n.4831C>A
ENST00000683365.1:n.4891C>A
ENST00000683377.1:n.4685C>A
ENST00000683456.1:c.*1711C>A ENSP00000508318.1:n.*1711C>A
ENST00000683522.1:n.4871C>A
ENST00000683562.1:c.*2639C>A ENSP00000508265.1:n.*2639C>A
ENST00000683693.1:n.6250C>A
ENST00000683725.1:c.*39C>A ENSP00000507496.1:n.*39C>A
ENST00000684010.1:n.4784C>A
ENST00000684014.1:n.761C>A
ENST00000684157.1:n.5774C>A
ENST00000684253.1:n.4692C>A
ENST00000684288.1:c.*2746C>A ENSP00000507143.1:n.*2746C>A
ENST00000684313.1:n.4221C>A
ENST00000684332.1:n.4862C>A
ENST00000684371.1:n.4895C>A
ENST00000684404.1:n.5817C>A
ENST00000684442.1:n.5013C>A
ENST00000684555.1:c.*2786C>A ENSP00000507705.1:n.*2786C>A
ENST00000684571.1:c.4415C>A ENSP00000506935.1:p.Thr1472Lys
ENST00000684593.1:c.*4279C>A ENSP00000507005.1:n.*4279C>A
ENST00000684711.1:c.*2970C>A ENSP00000506841.1:n.*2970C>A
ENST00000302539.9:c.4577C>A ENSP00000303960.4:p.Thr1526Lys
ENST00000389817.8:c.4574C>A MANE Select ENSP00000374467.4:p.Thr1525Lys
ENST00000642271.1:c.4571C>A ENSP00000493749.1:p.Thr1524Lys
ENST00000642579.1:c.2628C>A
ENST00000642611.1:n.5792C>A
ENST00000642902.1:c.4356C>A
ENST00000643260.1:c.4574C>A ENSP00000494450.1:p.Thr1525Lys
ENST00000643562.1:c.*2696C>A ENSP00000496124.1:n.*2696C>A
ENST00000643925.1:c.3185+535C>A
ENST00000644057.1:n.733C>A
ENST00000644484.1:c.*3960C>A ENSP00000493558.1:n.*3960C>A
ENST00000644675.1:c.*2746C>A ENSP00000494567.1:n.*2746C>A
ENST00000644757.1:c.*3203-751C>A ENSP00000495085.1:n.*3203-751C>A
ENST00000644772.1:c.4640C>A ENSP00000494321.1:p.Thr1547Lys
ENST00000645004.1:n.2267C>A
ENST00000645076.1:c.3669C>A
ENST00000645417.1:c.1762C>A
ENST00000645744.1:c.*4259C>A ENSP00000494564.1:n.*4259C>A
ENST00000645760.1:c.4995C>A
ENST00000645884.1:c.*1857C>A ENSP00000495516.1:n.*1857C>A
ENST00000646003.1:c.*2596C>A ENSP00000495259.1:n.*2596C>A
ENST00000646207.1:c.*3411C>A ENSP00000495025.1:n.*3411C>A
ENST00000646276.1:c.*3978C>A ENSP00000496070.1:n.*3978C>A
ENST00000646592.1:c.3880C>A
ENST00000646902.1:c.4541C>A ENSP00000494101.1:p.Thr1514Lys
ENST00000646993.1:c.*3012C>A ENSP00000493720.1:n.*3012C>A
ENST00000647015.1:c.4325C>A ENSP00000495389.1:p.Thr1442Lys
ENST00000647086.1:c.*4160C>A ENSP00000493677.1:n.*4160C>A
ENST00000647158.1:c.*2861C>A ENSP00000495744.1:n.*2861C>A
ENST00000302539.8:c.4577C>A ENSP00000303960.4:p.Thr1526Lys
ENST00000389817.7:c.4574C>A ENSP00000374467.3:p.Thr1525Lys
ENST00000525022.1:n.469C>A
ENST00000526037.5:n.334C>A
ENST00000526168.5:c.362C>A
ENST00000531642.5:c.605C>A
NM_000352.4:c.4574C>A NP_000343.2:p.Thr1525Lys
NM_001287174.1:c.4577C>A NP_001274103.1:p.Thr1526Lys
XM_011520331.1:c.4574C>A XP_011518633.1:p.Thr1525Lys
XM_011520333.1:c.3074C>A XP_011518635.1:p.Thr1025Lys
XR_930890.1:n.4536C>A
NM_001351295.1:c.4640C>A NP_001338224.1:p.Thr1547Lys
NM_001351296.1:c.4574C>A NP_001338225.1:p.Thr1525Lys
NM_001351297.1:c.4571C>A NP_001338226.1:p.Thr1524Lys
NR_147094.1:n.4869C>A
XM_017018197.2:c.4643C>A XP_016873686.1:p.Thr1548Lys
XM_017018199.1:c.4640C>A XP_016873688.1:p.Thr1547Lys
XM_017018202.1:c.3140C>A XP_016873691.1:p.Thr1047Lys
XM_017018204.1:c.2531C>A XP_016873693.1:p.Thr844Lys
XM_024448668.1:c.2942C>A XP_024304436.1:p.Thr981Lys
XR_001747945.2:n.4611C>A
XR_001747946.2:n.4542C>A
XR_002957189.1:n.6325C>A
NM_000352.6:c.4574C>A MANE Select NP_000343.2:p.Thr1525Lys
NM_001287174.2:c.4577C>A NP_001274103.1:p.Thr1526Lys
NM_001351295.2:c.4640C>A NP_001338224.1:p.Thr1547Lys
NM_001351296.2:c.4574C>A NP_001338225.1:p.Thr1525Lys
NM_001351297.2:c.4571C>A NP_001338226.1:p.Thr1524Lys
NR_147094.2:n.4869C>A
NM_001287174.3:c.4577C>A NP_001274103.1:p.Thr1526Lys