Canonical Allele Identifier: CA379781458
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393110G>T , CM000673.2:g.17393110G>T GRCh38
NC_000011.9:g.17414657G>T , CM000673.1:g.17414657G>T GRCh37
NC_000011.8:g.17371233G>T NCBI36
NG_008867.1:g.88793C>A
NG_012446.1:g.550C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4228C>A
ENST00000526037.6:n.562C>A
ENST00000528374.2:c.1218C>A
ENST00000529967.6:n.2966C>A
ENST00000532220.2:n.3860C>A
ENST00000642611.2:n.5960C>A
ENST00000644057.2:n.1203C>A
ENST00000645004.2:n.2126C>A
ENST00000682051.1:n.4789C>A
ENST00000682110.1:n.4842C>A
ENST00000682140.1:c.*413C>A ENSP00000507829.1:n.*413C>A
ENST00000682185.1:n.5932C>A
ENST00000682204.1:c.*2765C>A ENSP00000507094.1:n.*2765C>A
ENST00000682215.1:n.5209C>A
ENST00000682288.1:c.*3058C>A ENSP00000507506.1:n.*3058C>A
ENST00000682442.1:n.5062C>A
ENST00000682528.1:n.4919C>A
ENST00000682673.1:n.4786C>A
ENST00000682805.1:n.5247C>A
ENST00000682965.1:c.*1049C>A ENSP00000508229.1:n.*1049C>A
ENST00000683093.1:n.5822C>A
ENST00000683136.1:c.4510C>A ENSP00000507768.1:p.Leu1504Met
ENST00000683153.1:n.4884C>A
ENST00000683365.1:n.4944C>A
ENST00000683377.1:n.4738C>A
ENST00000683456.1:c.*1764C>A ENSP00000508318.1:n.*1764C>A
ENST00000683522.1:n.4924C>A
ENST00000683562.1:c.*2692C>A ENSP00000508265.1:n.*2692C>A
ENST00000683693.1:n.6303C>A
ENST00000683725.1:c.*92C>A ENSP00000507496.1:n.*92C>A
ENST00000684010.1:n.4837C>A
ENST00000684014.1:n.814C>A
ENST00000684157.1:n.5827C>A
ENST00000684253.1:n.4745C>A
ENST00000684288.1:c.*2799C>A ENSP00000507143.1:n.*2799C>A
ENST00000684313.1:n.4274C>A
ENST00000684332.1:n.4915C>A
ENST00000684371.1:n.4948C>A
ENST00000684404.1:n.5870C>A
ENST00000684442.1:n.5066C>A
ENST00000684555.1:c.*2839C>A ENSP00000507705.1:n.*2839C>A
ENST00000684571.1:c.4468C>A ENSP00000506935.1:p.Leu1490Met
ENST00000684593.1:c.*4332C>A ENSP00000507005.1:n.*4332C>A
ENST00000684711.1:c.*3023C>A ENSP00000506841.1:n.*3023C>A
ENST00000302539.9:c.4630C>A ENSP00000303960.4:p.Leu1544Met
ENST00000389817.8:c.4627C>A MANE Select ENSP00000374467.4:p.Leu1543Met
ENST00000642271.1:c.4624C>A ENSP00000493749.1:p.Leu1542Met
ENST00000642579.1:c.2681C>A
ENST00000642611.1:n.5845C>A
ENST00000642902.1:c.4409C>A
ENST00000643260.1:c.4627C>A ENSP00000494450.1:p.Leu1543Met
ENST00000643562.1:c.*2749C>A ENSP00000496124.1:n.*2749C>A
ENST00000643925.1:c.3204C>A
ENST00000644057.1:n.786C>A
ENST00000644484.1:c.*4013C>A ENSP00000493558.1:n.*4013C>A
ENST00000644675.1:c.*2799C>A ENSP00000494567.1:n.*2799C>A
ENST00000644757.1:c.*3203-130C>A ENSP00000495085.1:n.*3203-130C>A
ENST00000644772.1:c.4693C>A ENSP00000494321.1:p.Leu1565Met
ENST00000645004.1:n.2320C>A
ENST00000645076.1:c.3722C>A
ENST00000645417.1:c.1815C>A
ENST00000645744.1:c.*4312C>A ENSP00000494564.1:n.*4312C>A
ENST00000645760.1:c.5048C>A
ENST00000645884.1:c.*1910C>A ENSP00000495516.1:n.*1910C>A
ENST00000646003.1:c.*2649C>A ENSP00000495259.1:n.*2649C>A
ENST00000646207.1:c.*3464C>A ENSP00000495025.1:n.*3464C>A
ENST00000646276.1:c.*4031C>A ENSP00000496070.1:n.*4031C>A
ENST00000646592.1:c.3933C>A
ENST00000646902.1:c.4594C>A ENSP00000494101.1:p.Leu1532Met
ENST00000646993.1:c.*3065C>A ENSP00000493720.1:n.*3065C>A
ENST00000647015.1:c.4378C>A ENSP00000495389.1:p.Leu1460Met
ENST00000647086.1:c.*4213C>A ENSP00000493677.1:n.*4213C>A
ENST00000647158.1:c.*2914C>A ENSP00000495744.1:n.*2914C>A
ENST00000302539.8:c.4630C>A ENSP00000303960.4:p.Leu1544Met
ENST00000389817.7:c.4627C>A ENSP00000374467.3:p.Leu1543Met
ENST00000525022.1:n.606C>A
ENST00000526037.5:n.387C>A
ENST00000526168.5:c.415C>A
ENST00000531642.5:c.658C>A
NM_000352.4:c.4627C>A NP_000343.2:p.Leu1543Met
NM_001287174.1:c.4630C>A NP_001274103.1:p.Leu1544Met
XM_011520331.1:c.4627C>A XP_011518633.1:p.Leu1543Met
XM_011520333.1:c.3127C>A XP_011518635.1:p.Leu1043Met
XR_930890.1:n.4589C>A
NM_001351295.1:c.4693C>A NP_001338224.1:p.Leu1565Met
NM_001351296.1:c.4627C>A NP_001338225.1:p.Leu1543Met
NM_001351297.1:c.4624C>A NP_001338226.1:p.Leu1542Met
NR_147094.1:n.4922C>A
XM_017018197.2:c.4696C>A XP_016873686.1:p.Leu1566Met
XM_017018199.1:c.4693C>A XP_016873688.1:p.Leu1565Met
XM_017018202.1:c.3193C>A XP_016873691.1:p.Leu1065Met
XM_017018204.1:c.2584C>A XP_016873693.1:p.Leu862Met
XM_024448668.1:c.2995C>A XP_024304436.1:p.Leu999Met
XR_001747945.2:n.4664C>A
XR_001747946.2:n.4595C>A
XR_002957189.1:n.6378C>A
NM_000352.6:c.4627C>A MANE Select NP_000343.2:p.Leu1543Met
NM_001287174.2:c.4630C>A NP_001274103.1:p.Leu1544Met
NM_001351295.2:c.4693C>A NP_001338224.1:p.Leu1565Met
NM_001351296.2:c.4627C>A NP_001338225.1:p.Leu1543Met
NM_001351297.2:c.4624C>A NP_001338226.1:p.Leu1542Met
NR_147094.2:n.4922C>A
NM_001287174.3:c.4630C>A NP_001274103.1:p.Leu1544Met