Canonical Allele Identifier: CA379782001
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393724G>T , CM000673.2:g.17393724G>T GRCh38
NC_000011.9:g.17415271G>T , CM000673.1:g.17415271G>T GRCh37
NC_000011.8:g.17371847G>T NCBI36
NG_008867.1:g.88179C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4182C>A
ENST00000526037.6:n.516C>A
ENST00000528374.2:c.1172C>A
ENST00000529967.6:n.2920C>A
ENST00000532220.2:n.3814C>A
ENST00000642611.2:n.5914C>A
ENST00000644057.2:n.1157C>A
ENST00000645004.2:n.2080C>A
ENST00000682051.1:n.4743C>A
ENST00000682110.1:n.4796C>A
ENST00000682140.1:c.*367C>A ENSP00000507829.1:n.*367C>A
ENST00000682185.1:n.5886C>A
ENST00000682204.1:c.*2719C>A ENSP00000507094.1:n.*2719C>A
ENST00000682215.1:n.5163C>A
ENST00000682288.1:c.*3012C>A ENSP00000507506.1:n.*3012C>A
ENST00000682442.1:n.5016C>A
ENST00000682528.1:n.4873C>A
ENST00000682673.1:n.4740C>A
ENST00000682805.1:n.5201C>A
ENST00000682965.1:c.*1003C>A ENSP00000508229.1:n.*1003C>A
ENST00000683093.1:n.5776C>A
ENST00000683136.1:c.4464C>A ENSP00000507768.1:p.Phe1488Leu
ENST00000683153.1:n.4838C>A
ENST00000683365.1:n.4898C>A
ENST00000683377.1:n.4692C>A
ENST00000683456.1:c.*1718C>A ENSP00000508318.1:n.*1718C>A
ENST00000683522.1:n.4878C>A
ENST00000683562.1:c.*2646C>A ENSP00000508265.1:n.*2646C>A
ENST00000683693.1:n.6257C>A
ENST00000683725.1:c.*46C>A ENSP00000507496.1:n.*46C>A
ENST00000684010.1:n.4791C>A
ENST00000684014.1:n.768C>A
ENST00000684157.1:n.5781C>A
ENST00000684253.1:n.4699C>A
ENST00000684288.1:c.*2753C>A ENSP00000507143.1:n.*2753C>A
ENST00000684313.1:n.4228C>A
ENST00000684332.1:n.4869C>A
ENST00000684371.1:n.4902C>A
ENST00000684404.1:n.5824C>A
ENST00000684442.1:n.5020C>A
ENST00000684555.1:c.*2793C>A ENSP00000507705.1:n.*2793C>A
ENST00000684571.1:c.4422C>A ENSP00000506935.1:p.Phe1474Leu
ENST00000684593.1:c.*4286C>A ENSP00000507005.1:n.*4286C>A
ENST00000684711.1:c.*2977C>A ENSP00000506841.1:n.*2977C>A
ENST00000302539.9:c.4584C>A ENSP00000303960.4:p.Phe1528Leu
ENST00000389817.8:c.4581C>A MANE Select ENSP00000374467.4:p.Phe1527Leu
ENST00000642271.1:c.4578C>A ENSP00000493749.1:p.Phe1526Leu
ENST00000642579.1:c.2635C>A
ENST00000642611.1:n.5799C>A
ENST00000642902.1:c.4363C>A
ENST00000643260.1:c.4581C>A ENSP00000494450.1:p.Phe1527Leu
ENST00000643562.1:c.*2703C>A ENSP00000496124.1:n.*2703C>A
ENST00000643925.1:c.3185+542C>A
ENST00000644057.1:n.740C>A
ENST00000644484.1:c.*3967C>A ENSP00000493558.1:n.*3967C>A
ENST00000644675.1:c.*2753C>A ENSP00000494567.1:n.*2753C>A
ENST00000644757.1:c.*3203-744C>A ENSP00000495085.1:n.*3203-744C>A
ENST00000644772.1:c.4647C>A ENSP00000494321.1:p.Phe1549Leu
ENST00000645004.1:n.2274C>A
ENST00000645076.1:c.3676C>A
ENST00000645417.1:c.1769C>A
ENST00000645744.1:c.*4266C>A ENSP00000494564.1:n.*4266C>A
ENST00000645760.1:c.5002C>A
ENST00000645884.1:c.*1864C>A ENSP00000495516.1:n.*1864C>A
ENST00000646003.1:c.*2603C>A ENSP00000495259.1:n.*2603C>A
ENST00000646207.1:c.*3418C>A ENSP00000495025.1:n.*3418C>A
ENST00000646276.1:c.*3985C>A ENSP00000496070.1:n.*3985C>A
ENST00000646592.1:c.3887C>A
ENST00000646902.1:c.4548C>A ENSP00000494101.1:p.Phe1516Leu
ENST00000646993.1:c.*3019C>A ENSP00000493720.1:n.*3019C>A
ENST00000647015.1:c.4332C>A ENSP00000495389.1:p.Phe1444Leu
ENST00000647086.1:c.*4167C>A ENSP00000493677.1:n.*4167C>A
ENST00000647158.1:c.*2868C>A ENSP00000495744.1:n.*2868C>A
ENST00000302539.8:c.4584C>A ENSP00000303960.4:p.Phe1528Leu
ENST00000389817.7:c.4581C>A ENSP00000374467.3:p.Phe1527Leu
ENST00000525022.1:n.476C>A
ENST00000526037.5:n.341C>A
ENST00000526168.5:c.369C>A
ENST00000531642.5:c.612C>A
NM_000352.4:c.4581C>A NP_000343.2:p.Phe1527Leu
NM_001287174.1:c.4584C>A NP_001274103.1:p.Phe1528Leu
XM_011520331.1:c.4581C>A XP_011518633.1:p.Phe1527Leu
XM_011520333.1:c.3081C>A XP_011518635.1:p.Phe1027Leu
XR_930890.1:n.4543C>A
NM_001351295.1:c.4647C>A NP_001338224.1:p.Phe1549Leu
NM_001351296.1:c.4581C>A NP_001338225.1:p.Phe1527Leu
NM_001351297.1:c.4578C>A NP_001338226.1:p.Phe1526Leu
NR_147094.1:n.4876C>A
XM_017018197.2:c.4650C>A XP_016873686.1:p.Phe1550Leu
XM_017018199.1:c.4647C>A XP_016873688.1:p.Phe1549Leu
XM_017018202.1:c.3147C>A XP_016873691.1:p.Phe1049Leu
XM_017018204.1:c.2538C>A XP_016873693.1:p.Phe846Leu
XM_024448668.1:c.2949C>A XP_024304436.1:p.Phe983Leu
XR_001747945.2:n.4618C>A
XR_001747946.2:n.4549C>A
XR_002957189.1:n.6332C>A
NM_000352.6:c.4581C>A MANE Select NP_000343.2:p.Phe1527Leu
NM_001287174.2:c.4584C>A NP_001274103.1:p.Phe1528Leu
NM_001351295.2:c.4647C>A NP_001338224.1:p.Phe1549Leu
NM_001351296.2:c.4581C>A NP_001338225.1:p.Phe1527Leu
NM_001351297.2:c.4578C>A NP_001338226.1:p.Phe1526Leu
NR_147094.2:n.4876C>A
NM_001287174.3:c.4584C>A NP_001274103.1:p.Phe1528Leu