Canonical Allele Identifier: CA379787876
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678780

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395869A>C , CM000673.2:g.17395869A>C GRCh38
NC_000011.9:g.17417416A>C , CM000673.1:g.17417416A>C GRCh37
NC_000011.8:g.17373992A>C NCBI36
NG_008867.1:g.86034T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3782T>G
ENST00000528374.2:c.772T>G
ENST00000529967.6:n.2520T>G
ENST00000532220.2:n.3414T>G
ENST00000642611.2:n.5381T>G
ENST00000644057.2:n.624T>G
ENST00000645004.2:n.1680T>G
ENST00000682051.1:n.4343T>G
ENST00000682110.1:n.4396T>G
ENST00000682140.1:c.4047T>G ENSP00000507829.1:p.His1349Gln
ENST00000682185.1:n.5486T>G
ENST00000682204.1:c.*2319T>G ENSP00000507094.1:n.*2319T>G
ENST00000682215.1:n.4763T>G
ENST00000682288.1:c.*2612T>G ENSP00000507506.1:n.*2612T>G
ENST00000682442.1:n.4616T>G
ENST00000682528.1:n.4473T>G
ENST00000682673.1:n.4340T>G
ENST00000682805.1:n.4801T>G
ENST00000682965.1:c.*603T>G ENSP00000508229.1:n.*603T>G
ENST00000683093.1:n.5480T>G
ENST00000683136.1:c.4064T>G ENSP00000507768.1:p.Met1355Arg
ENST00000683153.1:n.4438T>G
ENST00000683365.1:n.4498T>G
ENST00000683377.1:n.4396T>G
ENST00000683456.1:c.*1318T>G ENSP00000508318.1:n.*1318T>G
ENST00000683522.1:n.4396T>G
ENST00000683562.1:c.*2350T>G ENSP00000508265.1:n.*2350T>G
ENST00000683693.1:n.5828T>G
ENST00000683725.1:c.4181T>G ENSP00000507496.1:p.Met1394Arg
ENST00000684010.1:n.4391T>G
ENST00000684157.1:n.5381T>G
ENST00000684253.1:n.4299T>G
ENST00000684288.1:c.*2353T>G ENSP00000507143.1:n.*2353T>G
ENST00000684313.1:n.3828T>G
ENST00000684332.1:n.4469T>G
ENST00000684371.1:n.4502T>G
ENST00000684404.1:n.5424T>G
ENST00000684442.1:n.4620T>G
ENST00000684555.1:c.*2393T>G ENSP00000507705.1:n.*2393T>G
ENST00000684571.1:c.4022T>G ENSP00000506935.1:p.Met1341Arg
ENST00000684593.1:c.*3886T>G ENSP00000507005.1:n.*3886T>G
ENST00000684711.1:c.*2577T>G ENSP00000506841.1:n.*2577T>G
ENST00000302539.9:c.4184T>G ENSP00000303960.4:p.Met1395Arg
ENST00000389817.8:c.4181T>G MANE Select ENSP00000374467.4:p.Met1394Arg
ENST00000642271.1:c.4178T>G ENSP00000493749.1:p.Met1393Arg
ENST00000642579.1:c.2235T>G
ENST00000642611.1:n.5266T>G
ENST00000642902.1:c.3963T>G
ENST00000643260.1:c.4181T>G ENSP00000494450.1:p.Met1394Arg
ENST00000643562.1:c.*2303T>G ENSP00000496124.1:n.*2303T>G
ENST00000643925.1:c.2821T>G
ENST00000644057.1:n.258T>G
ENST00000644484.1:c.*3567T>G ENSP00000493558.1:n.*3567T>G
ENST00000644675.1:c.*2353T>G ENSP00000494567.1:n.*2353T>G
ENST00000644757.1:c.*3202+395T>G ENSP00000495085.1:n.*3202+395T>G
ENST00000644772.1:c.4247T>G ENSP00000494321.1:p.Met1416Arg
ENST00000645004.1:n.1874T>G
ENST00000645076.1:c.3380T>G
ENST00000645417.1:c.1369T>G
ENST00000645744.1:c.*3946T>G ENSP00000494564.1:n.*3946T>G
ENST00000645760.1:c.4602T>G
ENST00000645884.1:c.*1464T>G ENSP00000495516.1:n.*1464T>G
ENST00000646003.1:c.*2283T>G ENSP00000495259.1:n.*2283T>G
ENST00000646207.1:c.*3018T>G ENSP00000495025.1:n.*3018T>G
ENST00000646276.1:c.*3585T>G ENSP00000496070.1:n.*3585T>G
ENST00000646592.1:c.3487T>G
ENST00000646902.1:c.4148T>G ENSP00000494101.1:p.Met1383Arg
ENST00000646993.1:c.*2723T>G ENSP00000493720.1:n.*2723T>G
ENST00000647013.1:c.4187T>G ENSP00000496741.1:n.4187T>G
ENST00000647015.1:c.3932T>G ENSP00000495389.1:p.Met1311Arg
ENST00000647086.1:c.*3767T>G ENSP00000493677.1:n.*3767T>G
ENST00000647158.1:c.*2468T>G ENSP00000495744.1:n.*2468T>G
ENST00000302539.8:c.4184T>G ENSP00000303960.4:p.Met1395Arg
ENST00000389817.7:c.4181T>G ENSP00000374467.3:p.Met1394Arg
ENST00000525022.1:n.47T>G
ENST00000526168.5:c.49T>G
ENST00000531642.5:c.17T>G
NM_000352.4:c.4181T>G NP_000343.2:p.Met1394Arg
NM_001287174.1:c.4184T>G NP_001274103.1:p.Met1395Arg
XM_011520331.1:c.4181T>G XP_011518633.1:p.Met1394Arg
XM_011520332.1:c.4184T>G XP_011518634.1:p.Met1395Arg
XM_011520333.1:c.2681T>G XP_011518635.1:p.Met894Arg
XR_930890.1:n.4247T>G
NM_001351295.1:c.4247T>G NP_001338224.1:p.Met1416Arg
NM_001351296.1:c.4181T>G NP_001338225.1:p.Met1394Arg
NM_001351297.1:c.4178T>G NP_001338226.1:p.Met1393Arg
NR_147094.1:n.4476T>G
XM_017018197.2:c.4250T>G XP_016873686.1:p.Met1417Arg
XM_017018199.1:c.4247T>G XP_016873688.1:p.Met1416Arg
XM_017018201.2:c.4250T>G XP_016873690.1:p.Met1417Arg
XM_017018202.1:c.2747T>G XP_016873691.1:p.Met916Arg
XM_017018204.1:c.2138T>G XP_016873693.1:p.Met713Arg
XM_024448668.1:c.2549T>G XP_024304436.1:p.Met850Arg
XR_001747945.2:n.4322T>G
XR_001747946.2:n.4253T>G
XR_002957189.1:n.5903T>G
NM_000352.6:c.4181T>G MANE Select NP_000343.2:p.Met1394Arg
NM_001287174.2:c.4184T>G NP_001274103.1:p.Met1395Arg
NM_001351295.2:c.4247T>G NP_001338224.1:p.Met1416Arg
NM_001351296.2:c.4181T>G NP_001338225.1:p.Met1394Arg
NM_001351297.2:c.4178T>G NP_001338226.1:p.Met1393Arg
NR_147094.2:n.4476T>G
NM_001287174.3:c.4184T>G NP_001274103.1:p.Met1395Arg