Canonical Allele Identifier: CA379791062
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397019G>C , CM000673.2:g.17397019G>C GRCh38
NC_000011.9:g.17418566G>C , CM000673.1:g.17418566G>C GRCh37
NC_000011.8:g.17375142G>C NCBI36
NG_008867.1:g.84884C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3617C>G
ENST00000528374.2:c.607C>G
ENST00000529967.6:n.2355C>G
ENST00000532220.2:n.2264C>G
ENST00000642611.2:n.4231C>G
ENST00000644057.2:n.459C>G
ENST00000645004.2:n.1515C>G
ENST00000682051.1:n.4178C>G
ENST00000682110.1:n.4231C>G
ENST00000682140.1:c.3985+174C>G ENSP00000507829.1:n.3985+174C>G
ENST00000682185.1:n.5321C>G
ENST00000682204.1:c.*2154C>G ENSP00000507094.1:n.*2154C>G
ENST00000682215.1:n.4598C>G
ENST00000682288.1:c.*2447C>G ENSP00000507506.1:n.*2447C>G
ENST00000682442.1:n.4451C>G
ENST00000682528.1:n.4308C>G
ENST00000682673.1:n.4175C>G
ENST00000682805.1:n.4598C>G
ENST00000682965.1:c.*438C>G ENSP00000508229.1:n.*438C>G
ENST00000683093.1:n.4330C>G
ENST00000683136.1:c.3899C>G ENSP00000507768.1:p.Pro1300Arg
ENST00000683153.1:n.4273C>G
ENST00000683365.1:n.4333C>G
ENST00000683377.1:n.4231C>G
ENST00000683456.1:c.*1153C>G ENSP00000508318.1:n.*1153C>G
ENST00000683522.1:n.4231C>G
ENST00000683562.1:c.*2185C>G ENSP00000508265.1:n.*2185C>G
ENST00000683693.1:n.4678C>G
ENST00000683725.1:c.4016C>G ENSP00000507496.1:p.Pro1339Arg
ENST00000684010.1:n.4226C>G
ENST00000684157.1:n.4231C>G
ENST00000684253.1:n.4134C>G
ENST00000684288.1:c.*2188C>G ENSP00000507143.1:n.*2188C>G
ENST00000684313.1:n.3663C>G
ENST00000684332.1:n.4304C>G
ENST00000684371.1:n.4337C>G
ENST00000684404.1:n.4274C>G
ENST00000684442.1:n.4455C>G
ENST00000684555.1:c.*2228C>G ENSP00000507705.1:n.*2228C>G
ENST00000684571.1:c.3857C>G ENSP00000506935.1:p.Pro1286Arg
ENST00000684593.1:c.*3721C>G ENSP00000507005.1:n.*3721C>G
ENST00000684711.1:c.*2412C>G ENSP00000506841.1:n.*2412C>G
ENST00000302539.9:c.4019C>G ENSP00000303960.4:p.Pro1340Arg
ENST00000389817.8:c.4016C>G MANE Select ENSP00000374467.4:p.Pro1339Arg
ENST00000642271.1:c.4013C>G ENSP00000493749.1:p.Pro1338Arg
ENST00000642579.1:c.2073-3C>G
ENST00000642611.1:n.4116C>G
ENST00000642902.1:c.3798C>G
ENST00000643260.1:c.4016C>G ENSP00000494450.1:p.Pro1339Arg
ENST00000643562.1:c.*2138C>G ENSP00000496124.1:n.*2138C>G
ENST00000643925.1:c.2656C>G
ENST00000644057.1:n.93C>G
ENST00000644484.1:c.*2417C>G ENSP00000493558.1:n.*2417C>G
ENST00000644675.1:c.*2188C>G ENSP00000494567.1:n.*2188C>G
ENST00000644757.1:c.*2447C>G ENSP00000495085.1:n.*2447C>G
ENST00000644772.1:c.4082C>G ENSP00000494321.1:p.Pro1361Arg
ENST00000645004.1:n.1671C>G
ENST00000645076.1:c.3215C>G
ENST00000645417.1:c.1204C>G
ENST00000645744.1:c.*2796C>G ENSP00000494564.1:n.*2796C>G
ENST00000645760.1:c.4437C>G
ENST00000645884.1:c.*1299C>G ENSP00000495516.1:n.*1299C>G
ENST00000646003.1:c.*2118C>G ENSP00000495259.1:n.*2118C>G
ENST00000646207.1:c.*2853C>G ENSP00000495025.1:n.*2853C>G
ENST00000646276.1:c.*2435C>G ENSP00000496070.1:n.*2435C>G
ENST00000646592.1:c.3322C>G
ENST00000646902.1:c.3986-3C>G ENSP00000494101.1:n.3986-3C>G
ENST00000646993.1:c.*2558C>G ENSP00000493720.1:n.*2558C>G
ENST00000647013.1:c.4022C>G ENSP00000496741.1:n.4022C>G
ENST00000647015.1:c.3767C>G ENSP00000495389.1:p.Pro1256Arg
ENST00000647086.1:c.*3605-3C>G ENSP00000493677.1:n.*3605-3C>G
ENST00000647158.1:c.*2303C>G ENSP00000495744.1:n.*2303C>G
ENST00000302539.8:c.4019C>G ENSP00000303960.4:p.Pro1340Arg
ENST00000389817.7:c.4016C>G ENSP00000374467.3:p.Pro1339Arg
ENST00000527905.5:c.*1038C>G ENSP00000431653.1:n.*1038C>G
ENST00000528374.1:c.498C>G
ENST00000531137.1:n.581C>G
ENST00000531891.1:c.357-3C>G
ENST00000532220.1:n.490C>G
NM_000352.4:c.4016C>G NP_000343.2:p.Pro1339Arg
NM_001287174.1:c.4019C>G NP_001274103.1:p.Pro1340Arg
XM_011520331.1:c.4016C>G XP_011518633.1:p.Pro1339Arg
XM_011520332.1:c.4019C>G XP_011518634.1:p.Pro1340Arg
XM_011520333.1:c.2516C>G XP_011518635.1:p.Pro839Arg
XR_930890.1:n.4082C>G
NM_001351295.1:c.4082C>G NP_001338224.1:p.Pro1361Arg
NM_001351296.1:c.4016C>G NP_001338225.1:p.Pro1339Arg
NM_001351297.1:c.4013C>G NP_001338226.1:p.Pro1338Arg
NR_147094.1:n.4311C>G
XM_017018197.2:c.4085C>G XP_016873686.1:p.Pro1362Arg
XM_017018199.1:c.4082C>G XP_016873688.1:p.Pro1361Arg
XM_017018201.2:c.4085C>G XP_016873690.1:p.Pro1362Arg
XM_017018202.1:c.2582C>G XP_016873691.1:p.Pro861Arg
XM_017018204.1:c.1973C>G XP_016873693.1:p.Pro658Arg
XM_024448668.1:c.2384C>G XP_024304436.1:p.Pro795Arg
XR_001747945.2:n.4157C>G
XR_001747946.2:n.4088C>G
XR_002957189.1:n.4753C>G
NM_000352.6:c.4016C>G MANE Select NP_000343.2:p.Pro1339Arg
NM_001287174.2:c.4019C>G NP_001274103.1:p.Pro1340Arg
NM_001351295.2:c.4082C>G NP_001338224.1:p.Pro1361Arg
NM_001351296.2:c.4016C>G NP_001338225.1:p.Pro1339Arg
NM_001351297.2:c.4013C>G NP_001338226.1:p.Pro1338Arg
NR_147094.2:n.4311C>G
NM_001287174.3:c.4019C>G NP_001274103.1:p.Pro1340Arg