Canonical Allele Identifier: CA16041439
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 370722
dbSNP Id: rs1057516718

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397014G>A , CM000673.2:g.17397014G>A GRCh38
NC_000011.9:g.17418561G>A , CM000673.1:g.17418561G>A GRCh37
NC_000011.8:g.17375137G>A NCBI36
NG_008867.1:g.84889C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3622C>T
ENST00000528374.2:c.612C>T
ENST00000529967.6:n.2360C>T
ENST00000532220.2:n.2269C>T
ENST00000642611.2:n.4236C>T
ENST00000644057.2:n.464C>T
ENST00000645004.2:n.1520C>T
ENST00000682051.1:n.4183C>T
ENST00000682110.1:n.4236C>T
ENST00000682140.1:c.3985+179C>T ENSP00000507829.1:n.3985+179C>T
ENST00000682185.1:n.5326C>T
ENST00000682204.1:c.*2159C>T ENSP00000507094.1:n.*2159C>T
ENST00000682215.1:n.4603C>T
ENST00000682288.1:c.*2452C>T ENSP00000507506.1:n.*2452C>T
ENST00000682442.1:n.4456C>T
ENST00000682528.1:n.4313C>T
ENST00000682673.1:n.4180C>T
ENST00000682805.1:n.4603C>T
ENST00000682965.1:c.*443C>T ENSP00000508229.1:n.*443C>T
ENST00000683093.1:n.4335C>T
ENST00000683136.1:c.3904C>T ENSP00000507768.1:p.Gln1302Ter
ENST00000683153.1:n.4278C>T
ENST00000683365.1:n.4338C>T
ENST00000683377.1:n.4236C>T
ENST00000683456.1:c.*1158C>T ENSP00000508318.1:n.*1158C>T
ENST00000683522.1:n.4236C>T
ENST00000683562.1:c.*2190C>T ENSP00000508265.1:n.*2190C>T
ENST00000683693.1:n.4683C>T
ENST00000683725.1:c.4021C>T ENSP00000507496.1:p.Gln1341Ter
ENST00000684010.1:n.4231C>T
ENST00000684157.1:n.4236C>T
ENST00000684253.1:n.4139C>T
ENST00000684288.1:c.*2193C>T ENSP00000507143.1:n.*2193C>T
ENST00000684313.1:n.3668C>T
ENST00000684332.1:n.4309C>T
ENST00000684371.1:n.4342C>T
ENST00000684404.1:n.4279C>T
ENST00000684442.1:n.4460C>T
ENST00000684555.1:c.*2233C>T ENSP00000507705.1:n.*2233C>T
ENST00000684571.1:c.3862C>T ENSP00000506935.1:p.Gln1288Ter
ENST00000684593.1:c.*3726C>T ENSP00000507005.1:n.*3726C>T
ENST00000684711.1:c.*2417C>T ENSP00000506841.1:n.*2417C>T
ENST00000302539.9:c.4024C>T ENSP00000303960.4:p.Gln1342Ter
ENST00000389817.8:c.4021C>T MANE Select ENSP00000374467.4:p.Gln1341Ter
ENST00000642271.1:c.4018C>T ENSP00000493749.1:p.Gln1340Ter
ENST00000642579.1:c.2075C>T
ENST00000642611.1:n.4121C>T
ENST00000642902.1:c.3803C>T
ENST00000643260.1:c.4021C>T ENSP00000494450.1:p.Gln1341Ter
ENST00000643562.1:c.*2143C>T ENSP00000496124.1:n.*2143C>T
ENST00000643925.1:c.2661C>T
ENST00000644057.1:n.98C>T
ENST00000644484.1:c.*2422C>T ENSP00000493558.1:n.*2422C>T
ENST00000644675.1:c.*2193C>T ENSP00000494567.1:n.*2193C>T
ENST00000644757.1:c.*2452C>T ENSP00000495085.1:n.*2452C>T
ENST00000644772.1:c.4087C>T ENSP00000494321.1:p.Gln1363Ter
ENST00000645004.1:n.1676C>T
ENST00000645076.1:c.3220C>T
ENST00000645417.1:c.1209C>T
ENST00000645744.1:c.*2801C>T ENSP00000494564.1:n.*2801C>T
ENST00000645760.1:c.4442C>T
ENST00000645884.1:c.*1304C>T ENSP00000495516.1:n.*1304C>T
ENST00000646003.1:c.*2123C>T ENSP00000495259.1:n.*2123C>T
ENST00000646207.1:c.*2858C>T ENSP00000495025.1:n.*2858C>T
ENST00000646276.1:c.*2440C>T ENSP00000496070.1:n.*2440C>T
ENST00000646592.1:c.3327C>T
ENST00000646902.1:c.3988C>T ENSP00000494101.1:p.Gln1330Ter
ENST00000646993.1:c.*2563C>T ENSP00000493720.1:n.*2563C>T
ENST00000647013.1:c.4027C>T ENSP00000496741.1:n.4027C>T
ENST00000647015.1:c.3772C>T ENSP00000495389.1:p.Gln1258Ter
ENST00000647086.1:c.*3607C>T ENSP00000493677.1:n.*3607C>T
ENST00000647158.1:c.*2308C>T ENSP00000495744.1:n.*2308C>T
ENST00000302539.8:c.4024C>T ENSP00000303960.4:p.Gln1342Ter
ENST00000389817.7:c.4021C>T ENSP00000374467.3:p.Gln1341Ter
ENST00000527905.5:c.*1043C>T ENSP00000431653.1:n.*1043C>T
ENST00000528374.1:c.503C>T
ENST00000531137.1:n.586C>T
ENST00000531891.1:c.359C>T
ENST00000532220.1:n.495C>T
NM_000352.4:c.4021C>T NP_000343.2:p.Gln1341Ter
NM_001287174.1:c.4024C>T NP_001274103.1:p.Gln1342Ter
XM_011520331.1:c.4021C>T XP_011518633.1:p.Gln1341Ter
XM_011520332.1:c.4024C>T XP_011518634.1:p.Gln1342Ter
XM_011520333.1:c.2521C>T XP_011518635.1:p.Gln841Ter
XR_930890.1:n.4087C>T
NM_001351295.1:c.4087C>T NP_001338224.1:p.Gln1363Ter
NM_001351296.1:c.4021C>T NP_001338225.1:p.Gln1341Ter
NM_001351297.1:c.4018C>T NP_001338226.1:p.Gln1340Ter
NR_147094.1:n.4316C>T
XM_017018197.2:c.4090C>T XP_016873686.1:p.Gln1364Ter
XM_017018199.1:c.4087C>T XP_016873688.1:p.Gln1363Ter
XM_017018201.2:c.4090C>T XP_016873690.1:p.Gln1364Ter
XM_017018202.1:c.2587C>T XP_016873691.1:p.Gln863Ter
XM_017018204.1:c.1978C>T XP_016873693.1:p.Gln660Ter
XM_024448668.1:c.2389C>T XP_024304436.1:p.Gln797Ter
XR_001747945.2:n.4162C>T
XR_001747946.2:n.4093C>T
XR_002957189.1:n.4758C>T
NM_000352.6:c.4021C>T MANE Select NP_000343.2:p.Gln1341Ter
NM_001287174.2:c.4024C>T NP_001274103.1:p.Gln1342Ter
NM_001351295.2:c.4087C>T NP_001338224.1:p.Gln1363Ter
NM_001351296.2:c.4021C>T NP_001338225.1:p.Gln1341Ter
NM_001351297.2:c.4018C>T NP_001338226.1:p.Gln1340Ter
NR_147094.2:n.4316C>T
NM_001287174.3:c.4024C>T NP_001274103.1:p.Gln1342Ter