Canonical Allele Identifier: CA379786996
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395689C>A , CM000673.2:g.17395689C>A GRCh38
NC_000011.9:g.17417236C>A , CM000673.1:g.17417236C>A GRCh37
NC_000011.8:g.17373812C>A NCBI36
NG_008867.1:g.86214G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3829G>T
ENST00000528374.2:c.819G>T
ENST00000529967.6:n.2567G>T
ENST00000532220.2:n.3461G>T
ENST00000642611.2:n.5561G>T
ENST00000644057.2:n.804G>T
ENST00000645004.2:n.1727G>T
ENST00000682051.1:n.4390G>T
ENST00000682110.1:n.4443G>T
ENST00000682140.1:c.*14G>T ENSP00000507829.1:n.*14G>T
ENST00000682185.1:n.5533G>T
ENST00000682204.1:c.*2366G>T ENSP00000507094.1:n.*2366G>T
ENST00000682215.1:n.4810G>T
ENST00000682288.1:c.*2659G>T ENSP00000507506.1:n.*2659G>T
ENST00000682442.1:n.4663G>T
ENST00000682528.1:n.4520G>T
ENST00000682673.1:n.4387G>T
ENST00000682805.1:n.4848G>T
ENST00000682965.1:c.*650G>T ENSP00000508229.1:n.*650G>T
ENST00000683093.1:n.5527G>T
ENST00000683136.1:c.4111G>T ENSP00000507768.1:p.Ala1371Ser
ENST00000683153.1:n.4485G>T
ENST00000683365.1:n.4545G>T
ENST00000683377.1:n.4443G>T
ENST00000683456.1:c.*1365G>T ENSP00000508318.1:n.*1365G>T
ENST00000683522.1:n.4443G>T
ENST00000683562.1:c.*2397G>T ENSP00000508265.1:n.*2397G>T
ENST00000683693.1:n.6008G>T
ENST00000683725.1:c.4228G>T ENSP00000507496.1:p.Ala1410Ser
ENST00000684010.1:n.4438G>T
ENST00000684157.1:n.5428G>T
ENST00000684253.1:n.4346G>T
ENST00000684288.1:c.*2400G>T ENSP00000507143.1:n.*2400G>T
ENST00000684313.1:n.3875G>T
ENST00000684332.1:n.4516G>T
ENST00000684371.1:n.4549G>T
ENST00000684404.1:n.5471G>T
ENST00000684442.1:n.4667G>T
ENST00000684555.1:c.*2440G>T ENSP00000507705.1:n.*2440G>T
ENST00000684571.1:c.4069G>T ENSP00000506935.1:p.Ala1357Ser
ENST00000684593.1:c.*3933G>T ENSP00000507005.1:n.*3933G>T
ENST00000684711.1:c.*2624G>T ENSP00000506841.1:n.*2624G>T
ENST00000302539.9:c.4231G>T ENSP00000303960.4:p.Ala1411Ser
ENST00000389817.8:c.4228G>T MANE Select ENSP00000374467.4:p.Ala1410Ser
ENST00000642271.1:c.4225G>T ENSP00000493749.1:p.Ala1409Ser
ENST00000642579.1:c.2282G>T
ENST00000642611.1:n.5446G>T
ENST00000642902.1:c.4010G>T
ENST00000643260.1:c.4228G>T ENSP00000494450.1:p.Ala1410Ser
ENST00000643562.1:c.*2350G>T ENSP00000496124.1:n.*2350G>T
ENST00000643925.1:c.2868G>T
ENST00000644057.1:n.305G>T
ENST00000644484.1:c.*3614G>T ENSP00000493558.1:n.*3614G>T
ENST00000644675.1:c.*2400G>T ENSP00000494567.1:n.*2400G>T
ENST00000644757.1:c.*3202+575G>T ENSP00000495085.1:n.*3202+575G>T
ENST00000644772.1:c.4294G>T ENSP00000494321.1:p.Ala1432Ser
ENST00000645004.1:n.1921G>T
ENST00000645076.1:c.3427G>T
ENST00000645417.1:c.1416G>T
ENST00000645744.1:c.*3964-51G>T ENSP00000494564.1:n.*3964-51G>T
ENST00000645760.1:c.4649G>T
ENST00000645884.1:c.*1511G>T ENSP00000495516.1:n.*1511G>T
ENST00000646003.1:c.*2301-51G>T ENSP00000495259.1:n.*2301-51G>T
ENST00000646207.1:c.*3065G>T ENSP00000495025.1:n.*3065G>T
ENST00000646276.1:c.*3632G>T ENSP00000496070.1:n.*3632G>T
ENST00000646592.1:c.3534G>T
ENST00000646902.1:c.4195G>T ENSP00000494101.1:p.Ala1399Ser
ENST00000646993.1:c.*2770G>T ENSP00000493720.1:n.*2770G>T
ENST00000647013.1:c.4234G>T ENSP00000496741.1:n.4234G>T
ENST00000647015.1:c.3979G>T ENSP00000495389.1:p.Ala1327Ser
ENST00000647086.1:c.*3814G>T ENSP00000493677.1:n.*3814G>T
ENST00000647158.1:c.*2515G>T ENSP00000495744.1:n.*2515G>T
ENST00000302539.8:c.4231G>T ENSP00000303960.4:p.Ala1411Ser
ENST00000389817.7:c.4228G>T ENSP00000374467.3:p.Ala1410Ser
ENST00000525022.1:n.227G>T
ENST00000526037.5:n.92G>T
ENST00000526168.5:c.67-51G>T
ENST00000531642.5:c.64G>T
NM_000352.4:c.4228G>T NP_000343.2:p.Ala1410Ser
NM_001287174.1:c.4231G>T NP_001274103.1:p.Ala1411Ser
XM_011520331.1:c.4228G>T XP_011518633.1:p.Ala1410Ser
XM_011520332.1:c.4231G>T XP_011518634.1:p.Ala1411Ser
XM_011520333.1:c.2728G>T XP_011518635.1:p.Ala910Ser
XR_930890.1:n.4294G>T
NM_001351295.1:c.4294G>T NP_001338224.1:p.Ala1432Ser
NM_001351296.1:c.4228G>T NP_001338225.1:p.Ala1410Ser
NM_001351297.1:c.4225G>T NP_001338226.1:p.Ala1409Ser
NR_147094.1:n.4523G>T
XM_017018197.2:c.4297G>T XP_016873686.1:p.Ala1433Ser
XM_017018199.1:c.4294G>T XP_016873688.1:p.Ala1432Ser
XM_017018201.2:c.4297G>T XP_016873690.1:p.Ala1433Ser
XM_017018202.1:c.2794G>T XP_016873691.1:p.Ala932Ser
XM_017018204.1:c.2185G>T XP_016873693.1:p.Ala729Ser
XM_024448668.1:c.2596G>T XP_024304436.1:p.Ala866Ser
XR_001747945.2:n.4369G>T
XR_001747946.2:n.4300G>T
XR_002957189.1:n.6083G>T
NM_000352.6:c.4228G>T MANE Select NP_000343.2:p.Ala1410Ser
NM_001287174.2:c.4231G>T NP_001274103.1:p.Ala1411Ser
NM_001351295.2:c.4294G>T NP_001338224.1:p.Ala1432Ser
NM_001351296.2:c.4228G>T NP_001338225.1:p.Ala1410Ser
NM_001351297.2:c.4225G>T NP_001338226.1:p.Ala1409Ser
NR_147094.2:n.4523G>T
NM_001287174.3:c.4231G>T NP_001274103.1:p.Ala1411Ser