Canonical Allele Identifier: CA379796438
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17402673A>C , CM000673.2:g.17402673A>C GRCh38
NC_000011.9:g.17424220A>C , CM000673.1:g.17424220A>C GRCh37
NC_000011.8:g.17380796A>C NCBI36
NG_008867.1:g.79230T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3207T>G
ENST00000528374.2:c.217T>G
ENST00000529967.6:n.1977T>G
ENST00000532220.2:n.1370T>G
ENST00000642611.2:n.3707T>G
ENST00000644057.2:n.81T>G
ENST00000645004.2:n.1137T>G
ENST00000682051.1:n.3654T>G
ENST00000682110.1:n.3707T>G
ENST00000682140.1:c.3635T>G ENSP00000507829.1:p.Ile1212Ser
ENST00000682185.1:n.4943T>G
ENST00000682204.1:c.*1776T>G ENSP00000507094.1:n.*1776T>G
ENST00000682215.1:n.3704T>G
ENST00000682288.1:c.*2069T>G ENSP00000507506.1:n.*2069T>G
ENST00000682442.1:n.3927T>G
ENST00000682528.1:n.3784T>G
ENST00000682673.1:n.3651T>G
ENST00000682805.1:n.3704T>G
ENST00000682965.1:c.*60T>G ENSP00000508229.1:n.*60T>G
ENST00000683093.1:n.3806T>G
ENST00000683136.1:c.3635T>G ENSP00000507768.1:p.Ile1212Ser
ENST00000683153.1:n.3863T>G
ENST00000683365.1:n.3809T>G
ENST00000683377.1:n.3707T>G
ENST00000683456.1:c.*775T>G ENSP00000508318.1:n.*775T>G
ENST00000683522.1:n.3707T>G
ENST00000683562.1:c.*1807T>G ENSP00000508265.1:n.*1807T>G
ENST00000683693.1:n.3784T>G
ENST00000683725.1:c.3638T>G ENSP00000507496.1:p.Ile1213Ser
ENST00000684010.1:n.3702T>G
ENST00000684157.1:n.3707T>G
ENST00000684253.1:n.3610T>G
ENST00000684288.1:c.*1810T>G ENSP00000507143.1:n.*1810T>G
ENST00000684313.1:n.3139T>G
ENST00000684332.1:n.3780T>G
ENST00000684371.1:n.3813T>G
ENST00000684404.1:n.3750T>G
ENST00000684442.1:n.3707T>G
ENST00000684555.1:c.*1850T>G ENSP00000507705.1:n.*1850T>G
ENST00000684571.1:c.3479T>G ENSP00000506935.1:p.Ile1160Ser
ENST00000684593.1:c.*3343T>G ENSP00000507005.1:n.*3343T>G
ENST00000684711.1:c.*2034T>G ENSP00000506841.1:n.*2034T>G
ENST00000302539.9:c.3641T>G ENSP00000303960.4:p.Ile1214Ser
ENST00000389817.8:c.3638T>G MANE Select ENSP00000374467.4:p.Ile1213Ser
ENST00000642271.1:c.3635T>G ENSP00000493749.1:p.Ile1212Ser
ENST00000642579.1:c.1722T>G
ENST00000642611.1:n.3592T>G
ENST00000642902.1:c.3420T>G
ENST00000643260.1:c.3638T>G ENSP00000494450.1:p.Ile1213Ser
ENST00000643562.1:c.*1614T>G ENSP00000496124.1:n.*1614T>G
ENST00000643925.1:c.1762T>G
ENST00000644447.1:c.1994T>G ENSP00000496282.1:p.Ile665Ser
ENST00000644484.1:c.*1893T>G ENSP00000493558.1:n.*1893T>G
ENST00000644675.1:c.*1810T>G ENSP00000494567.1:n.*1810T>G
ENST00000644757.1:c.*1923T>G ENSP00000495085.1:n.*1923T>G
ENST00000644772.1:c.3704T>G ENSP00000494321.1:p.Ile1235Ser
ENST00000645004.1:n.777T>G
ENST00000645076.1:c.2837T>G
ENST00000645417.1:c.804T>G
ENST00000645744.1:c.*1902T>G ENSP00000494564.1:n.*1902T>G
ENST00000645760.1:c.3913T>G
ENST00000645884.1:c.*775T>G ENSP00000495516.1:n.*775T>G
ENST00000646003.1:c.*1594T>G ENSP00000495259.1:n.*1594T>G
ENST00000646207.1:c.*2105T>G ENSP00000495025.1:n.*2105T>G
ENST00000646276.1:c.*1911T>G ENSP00000496070.1:n.*1911T>G
ENST00000646592.1:c.2944T>G
ENST00000646902.1:c.3635T>G ENSP00000494101.1:p.Ile1212Ser
ENST00000646993.1:c.*2034T>G ENSP00000493720.1:n.*2034T>G
ENST00000647013.1:c.3644T>G ENSP00000496741.1:n.3644T>G
ENST00000647015.1:c.3389T>G ENSP00000495389.1:p.Ile1130Ser
ENST00000647086.1:c.*3368T>G ENSP00000493677.1:n.*3368T>G
ENST00000647158.1:c.*1779T>G ENSP00000495744.1:n.*1779T>G
ENST00000302539.8:c.3641T>G ENSP00000303960.4:p.Ile1214Ser
ENST00000389817.7:c.3638T>G ENSP00000374467.3:p.Ile1213Ser
ENST00000527905.5:c.*514T>G ENSP00000431653.1:n.*514T>G
ENST00000528374.1:c.108T>G
ENST00000531137.1:n.131T>G
ENST00000531891.1:c.6T>G
NM_000352.4:c.3638T>G NP_000343.2:p.Ile1213Ser
NM_001287174.1:c.3641T>G NP_001274103.1:p.Ile1214Ser
XM_011520331.1:c.3638T>G XP_011518633.1:p.Ile1213Ser
XM_011520332.1:c.3641T>G XP_011518634.1:p.Ile1214Ser
XM_011520333.1:c.2138T>G XP_011518635.1:p.Ile713Ser
XR_930890.1:n.3704T>G
XR_930892.1:n.3604T>G
XR_930893.1:n.3601T>G
NM_001351295.1:c.3704T>G NP_001338224.1:p.Ile1235Ser
NM_001351296.1:c.3638T>G NP_001338225.1:p.Ile1213Ser
NM_001351297.1:c.3635T>G NP_001338226.1:p.Ile1212Ser
NR_147094.1:n.3787T>G
XM_017018197.2:c.3707T>G XP_016873686.1:p.Ile1236Ser
XM_017018199.1:c.3704T>G XP_016873688.1:p.Ile1235Ser
XM_017018201.2:c.3707T>G XP_016873690.1:p.Ile1236Ser
XM_017018202.1:c.2204T>G XP_016873691.1:p.Ile735Ser
XM_017018204.1:c.1595T>G XP_016873693.1:p.Ile532Ser
XM_024448668.1:c.2006T>G XP_024304436.1:p.Ile669Ser
XR_001747945.2:n.3779T>G
XR_001747946.2:n.3710T>G
XR_002957189.1:n.3859T>G
NM_000352.6:c.3638T>G MANE Select NP_000343.2:p.Ile1213Ser
NM_001287174.2:c.3641T>G NP_001274103.1:p.Ile1214Ser
NM_001351295.2:c.3704T>G NP_001338224.1:p.Ile1235Ser
NM_001351296.2:c.3638T>G NP_001338225.1:p.Ile1213Ser
NM_001351297.2:c.3635T>G NP_001338226.1:p.Ile1212Ser
NR_147094.2:n.3787T>G
NM_001287174.3:c.3641T>G NP_001274103.1:p.Ile1214Ser