Canonical Allele Identifier: CA379790651
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396978A>C , CM000673.2:g.17396978A>C GRCh38
NC_000011.9:g.17418525A>C , CM000673.1:g.17418525A>C GRCh37
NC_000011.8:g.17375101A>C NCBI36
NG_008867.1:g.84925T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3658T>G
ENST00000528374.2:c.648T>G
ENST00000529967.6:n.2396T>G
ENST00000532220.2:n.2305T>G
ENST00000642611.2:n.4272T>G
ENST00000644057.2:n.500T>G
ENST00000645004.2:n.1556T>G
ENST00000682051.1:n.4219T>G
ENST00000682110.1:n.4272T>G
ENST00000682140.1:c.3985+215T>G ENSP00000507829.1:n.3985+215T>G
ENST00000682185.1:n.5362T>G
ENST00000682204.1:c.*2195T>G ENSP00000507094.1:n.*2195T>G
ENST00000682215.1:n.4639T>G
ENST00000682288.1:c.*2488T>G ENSP00000507506.1:n.*2488T>G
ENST00000682442.1:n.4492T>G
ENST00000682528.1:n.4349T>G
ENST00000682673.1:n.4216T>G
ENST00000682805.1:n.4639T>G
ENST00000682965.1:c.*479T>G ENSP00000508229.1:n.*479T>G
ENST00000683093.1:n.4371T>G
ENST00000683136.1:c.3940T>G ENSP00000507768.1:p.Tyr1314Asp
ENST00000683153.1:n.4314T>G
ENST00000683365.1:n.4374T>G
ENST00000683377.1:n.4272T>G
ENST00000683456.1:c.*1194T>G ENSP00000508318.1:n.*1194T>G
ENST00000683522.1:n.4272T>G
ENST00000683562.1:c.*2226T>G ENSP00000508265.1:n.*2226T>G
ENST00000683693.1:n.4719T>G
ENST00000683725.1:c.4057T>G ENSP00000507496.1:p.Tyr1353Asp
ENST00000684010.1:n.4267T>G
ENST00000684157.1:n.4272T>G
ENST00000684253.1:n.4175T>G
ENST00000684288.1:c.*2229T>G ENSP00000507143.1:n.*2229T>G
ENST00000684313.1:n.3704T>G
ENST00000684332.1:n.4345T>G
ENST00000684371.1:n.4378T>G
ENST00000684404.1:n.4315T>G
ENST00000684442.1:n.4496T>G
ENST00000684555.1:c.*2269T>G ENSP00000507705.1:n.*2269T>G
ENST00000684571.1:c.3898T>G ENSP00000506935.1:p.Tyr1300Asp
ENST00000684593.1:c.*3762T>G ENSP00000507005.1:n.*3762T>G
ENST00000684711.1:c.*2453T>G ENSP00000506841.1:n.*2453T>G
ENST00000302539.9:c.4060T>G ENSP00000303960.4:p.Tyr1354Asp
ENST00000389817.8:c.4057T>G MANE Select ENSP00000374467.4:p.Tyr1353Asp
ENST00000642271.1:c.4054T>G ENSP00000493749.1:p.Tyr1352Asp
ENST00000642579.1:c.2111T>G
ENST00000642611.1:n.4157T>G
ENST00000642902.1:c.3839T>G
ENST00000643260.1:c.4057T>G ENSP00000494450.1:p.Tyr1353Asp
ENST00000643562.1:c.*2179T>G ENSP00000496124.1:n.*2179T>G
ENST00000643925.1:c.2697T>G
ENST00000644057.1:n.134T>G
ENST00000644484.1:c.*2458T>G ENSP00000493558.1:n.*2458T>G
ENST00000644675.1:c.*2229T>G ENSP00000494567.1:n.*2229T>G
ENST00000644757.1:c.*2488T>G ENSP00000495085.1:n.*2488T>G
ENST00000644772.1:c.4123T>G ENSP00000494321.1:p.Tyr1375Asp
ENST00000645004.1:n.1712T>G
ENST00000645076.1:c.3256T>G
ENST00000645417.1:c.1245T>G
ENST00000645744.1:c.*2837T>G ENSP00000494564.1:n.*2837T>G
ENST00000645760.1:c.4478T>G
ENST00000645884.1:c.*1340T>G ENSP00000495516.1:n.*1340T>G
ENST00000646003.1:c.*2159T>G ENSP00000495259.1:n.*2159T>G
ENST00000646207.1:c.*2894T>G ENSP00000495025.1:n.*2894T>G
ENST00000646276.1:c.*2476T>G ENSP00000496070.1:n.*2476T>G
ENST00000646592.1:c.3363T>G
ENST00000646902.1:c.4024T>G ENSP00000494101.1:p.Tyr1342Asp
ENST00000646993.1:c.*2599T>G ENSP00000493720.1:n.*2599T>G
ENST00000647013.1:c.4063T>G ENSP00000496741.1:n.4063T>G
ENST00000647015.1:c.3808T>G ENSP00000495389.1:p.Tyr1270Asp
ENST00000647086.1:c.*3643T>G ENSP00000493677.1:n.*3643T>G
ENST00000647158.1:c.*2344T>G ENSP00000495744.1:n.*2344T>G
ENST00000302539.8:c.4060T>G ENSP00000303960.4:p.Tyr1354Asp
ENST00000389817.7:c.4057T>G ENSP00000374467.3:p.Tyr1353Asp
ENST00000527905.5:c.*1079T>G ENSP00000431653.1:n.*1079T>G
ENST00000528374.1:c.539T>G
ENST00000531137.1:n.622T>G
ENST00000531891.1:c.395T>G
ENST00000532220.1:n.531T>G
NM_000352.4:c.4057T>G NP_000343.2:p.Tyr1353Asp
NM_001287174.1:c.4060T>G NP_001274103.1:p.Tyr1354Asp
XM_011520331.1:c.4057T>G XP_011518633.1:p.Tyr1353Asp
XM_011520332.1:c.4060T>G XP_011518634.1:p.Tyr1354Asp
XM_011520333.1:c.2557T>G XP_011518635.1:p.Tyr853Asp
XR_930890.1:n.4123T>G
NM_001351295.1:c.4123T>G NP_001338224.1:p.Tyr1375Asp
NM_001351296.1:c.4057T>G NP_001338225.1:p.Tyr1353Asp
NM_001351297.1:c.4054T>G NP_001338226.1:p.Tyr1352Asp
NR_147094.1:n.4352T>G
XM_017018197.2:c.4126T>G XP_016873686.1:p.Tyr1376Asp
XM_017018199.1:c.4123T>G XP_016873688.1:p.Tyr1375Asp
XM_017018201.2:c.4126T>G XP_016873690.1:p.Tyr1376Asp
XM_017018202.1:c.2623T>G XP_016873691.1:p.Tyr875Asp
XM_017018204.1:c.2014T>G XP_016873693.1:p.Tyr672Asp
XM_024448668.1:c.2425T>G XP_024304436.1:p.Tyr809Asp
XR_001747945.2:n.4198T>G
XR_001747946.2:n.4129T>G
XR_002957189.1:n.4794T>G
NM_000352.6:c.4057T>G MANE Select NP_000343.2:p.Tyr1353Asp
NM_001287174.2:c.4060T>G NP_001274103.1:p.Tyr1354Asp
NM_001351295.2:c.4123T>G NP_001338224.1:p.Tyr1375Asp
NM_001351296.2:c.4057T>G NP_001338225.1:p.Tyr1353Asp
NM_001351297.2:c.4054T>G NP_001338226.1:p.Tyr1352Asp
NR_147094.2:n.4352T>G
NM_001287174.3:c.4060T>G NP_001274103.1:p.Tyr1354Asp