Canonical Allele Identifier: CA379791338
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397046G>C , CM000673.2:g.17397046G>C GRCh38
NC_000011.9:g.17418593G>C , CM000673.1:g.17418593G>C GRCh37
NC_000011.8:g.17375169G>C NCBI36
NG_008867.1:g.84857C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3590C>G
ENST00000528374.2:c.580C>G
ENST00000529967.6:n.2328C>G
ENST00000532220.2:n.2237C>G
ENST00000642611.2:n.4204C>G
ENST00000644057.2:n.432C>G
ENST00000645004.2:n.1488C>G
ENST00000682051.1:n.4151C>G
ENST00000682110.1:n.4204C>G
ENST00000682140.1:c.3985+147C>G ENSP00000507829.1:n.3985+147C>G
ENST00000682185.1:n.5294C>G
ENST00000682204.1:c.*2127C>G ENSP00000507094.1:n.*2127C>G
ENST00000682215.1:n.4571C>G
ENST00000682288.1:c.*2420C>G ENSP00000507506.1:n.*2420C>G
ENST00000682442.1:n.4424C>G
ENST00000682528.1:n.4281C>G
ENST00000682673.1:n.4148C>G
ENST00000682805.1:n.4571C>G
ENST00000682965.1:c.*411C>G ENSP00000508229.1:n.*411C>G
ENST00000683093.1:n.4303C>G
ENST00000683136.1:c.3872C>G ENSP00000507768.1:p.Ala1291Gly
ENST00000683153.1:n.4246C>G
ENST00000683365.1:n.4306C>G
ENST00000683377.1:n.4204C>G
ENST00000683456.1:c.*1126C>G ENSP00000508318.1:n.*1126C>G
ENST00000683522.1:n.4204C>G
ENST00000683562.1:c.*2158C>G ENSP00000508265.1:n.*2158C>G
ENST00000683693.1:n.4651C>G
ENST00000683725.1:c.3989C>G ENSP00000507496.1:p.Ala1330Gly
ENST00000684010.1:n.4199C>G
ENST00000684157.1:n.4204C>G
ENST00000684253.1:n.4107C>G
ENST00000684288.1:c.*2161C>G ENSP00000507143.1:n.*2161C>G
ENST00000684313.1:n.3636C>G
ENST00000684332.1:n.4277C>G
ENST00000684371.1:n.4310C>G
ENST00000684404.1:n.4247C>G
ENST00000684442.1:n.4428C>G
ENST00000684555.1:c.*2201C>G ENSP00000507705.1:n.*2201C>G
ENST00000684571.1:c.3830C>G ENSP00000506935.1:p.Ala1277Gly
ENST00000684593.1:c.*3694C>G ENSP00000507005.1:n.*3694C>G
ENST00000684711.1:c.*2385C>G ENSP00000506841.1:n.*2385C>G
ENST00000302539.9:c.3992C>G ENSP00000303960.4:p.Ala1331Gly
ENST00000389817.8:c.3989C>G MANE Select ENSP00000374467.4:p.Ala1330Gly
ENST00000642271.1:c.3986C>G ENSP00000493749.1:p.Ala1329Gly
ENST00000642579.1:c.2073-30C>G
ENST00000642611.1:n.4089C>G
ENST00000642902.1:c.3771C>G
ENST00000643260.1:c.3989C>G ENSP00000494450.1:p.Ala1330Gly
ENST00000643562.1:c.*2111C>G ENSP00000496124.1:n.*2111C>G
ENST00000643925.1:c.2629C>G
ENST00000644057.1:n.66C>G
ENST00000644484.1:c.*2390C>G ENSP00000493558.1:n.*2390C>G
ENST00000644675.1:c.*2161C>G ENSP00000494567.1:n.*2161C>G
ENST00000644757.1:c.*2420C>G ENSP00000495085.1:n.*2420C>G
ENST00000644772.1:c.4055C>G ENSP00000494321.1:p.Ala1352Gly
ENST00000645004.1:n.1644C>G
ENST00000645076.1:c.3188C>G
ENST00000645417.1:c.1177C>G
ENST00000645744.1:c.*2769C>G ENSP00000494564.1:n.*2769C>G
ENST00000645760.1:c.4410C>G
ENST00000645884.1:c.*1272C>G ENSP00000495516.1:n.*1272C>G
ENST00000646003.1:c.*2091C>G ENSP00000495259.1:n.*2091C>G
ENST00000646207.1:c.*2826C>G ENSP00000495025.1:n.*2826C>G
ENST00000646276.1:c.*2408C>G ENSP00000496070.1:n.*2408C>G
ENST00000646592.1:c.3295C>G
ENST00000646902.1:c.3986-30C>G ENSP00000494101.1:n.3986-30C>G
ENST00000646993.1:c.*2531C>G ENSP00000493720.1:n.*2531C>G
ENST00000647013.1:c.3995C>G ENSP00000496741.1:n.3995C>G
ENST00000647015.1:c.3740C>G ENSP00000495389.1:p.Ala1247Gly
ENST00000647086.1:c.*3605-30C>G ENSP00000493677.1:n.*3605-30C>G
ENST00000647158.1:c.*2276C>G ENSP00000495744.1:n.*2276C>G
ENST00000302539.8:c.3992C>G ENSP00000303960.4:p.Ala1331Gly
ENST00000389817.7:c.3989C>G ENSP00000374467.3:p.Ala1330Gly
ENST00000527905.5:c.*1011C>G ENSP00000431653.1:n.*1011C>G
ENST00000528374.1:c.471C>G
ENST00000531137.1:n.554C>G
ENST00000531891.1:c.357-30C>G
ENST00000532220.1:n.463C>G
NM_000352.4:c.3989C>G NP_000343.2:p.Ala1330Gly
NM_001287174.1:c.3992C>G NP_001274103.1:p.Ala1331Gly
XM_011520331.1:c.3989C>G XP_011518633.1:p.Ala1330Gly
XM_011520332.1:c.3992C>G XP_011518634.1:p.Ala1331Gly
XM_011520333.1:c.2489C>G XP_011518635.1:p.Ala830Gly
XR_930890.1:n.4055C>G
NM_001351295.1:c.4055C>G NP_001338224.1:p.Ala1352Gly
NM_001351296.1:c.3989C>G NP_001338225.1:p.Ala1330Gly
NM_001351297.1:c.3986C>G NP_001338226.1:p.Ala1329Gly
NR_147094.1:n.4284C>G
XM_017018197.2:c.4058C>G XP_016873686.1:p.Ala1353Gly
XM_017018199.1:c.4055C>G XP_016873688.1:p.Ala1352Gly
XM_017018201.2:c.4058C>G XP_016873690.1:p.Ala1353Gly
XM_017018202.1:c.2555C>G XP_016873691.1:p.Ala852Gly
XM_017018204.1:c.1946C>G XP_016873693.1:p.Ala649Gly
XM_024448668.1:c.2357C>G XP_024304436.1:p.Ala786Gly
XR_001747945.2:n.4130C>G
XR_001747946.2:n.4061C>G
XR_002957189.1:n.4726C>G
NM_000352.6:c.3989C>G MANE Select NP_000343.2:p.Ala1330Gly
NM_001287174.2:c.3992C>G NP_001274103.1:p.Ala1331Gly
NM_001351295.2:c.4055C>G NP_001338224.1:p.Ala1352Gly
NM_001351296.2:c.3989C>G NP_001338225.1:p.Ala1330Gly
NM_001351297.2:c.3986C>G NP_001338226.1:p.Ala1329Gly
NR_147094.2:n.4284C>G
NM_001287174.3:c.3992C>G NP_001274103.1:p.Ala1331Gly