Canonical Allele Identifier: CA379788531
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395923A>C , CM000673.2:g.17395923A>C GRCh38
NC_000011.9:g.17417470A>C , CM000673.1:g.17417470A>C GRCh37
NC_000011.8:g.17374046A>C NCBI36
NG_008867.1:g.85980T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3728T>G
ENST00000528374.2:c.718T>G
ENST00000529967.6:n.2466T>G
ENST00000532220.2:n.3360T>G
ENST00000642611.2:n.5327T>G
ENST00000644057.2:n.570T>G
ENST00000645004.2:n.1626T>G
ENST00000682051.1:n.4289T>G
ENST00000682110.1:n.4342T>G
ENST00000682140.1:c.3993T>G ENSP00000507829.1:p.Asp1331Glu
ENST00000682185.1:n.5432T>G
ENST00000682204.1:c.*2265T>G ENSP00000507094.1:n.*2265T>G
ENST00000682215.1:n.4709T>G
ENST00000682288.1:c.*2558T>G ENSP00000507506.1:n.*2558T>G
ENST00000682442.1:n.4562T>G
ENST00000682528.1:n.4419T>G
ENST00000682673.1:n.4286T>G
ENST00000682805.1:n.4747T>G
ENST00000682965.1:c.*549T>G ENSP00000508229.1:n.*549T>G
ENST00000683093.1:n.5426T>G
ENST00000683136.1:c.4010T>G ENSP00000507768.1:p.Ile1337Ser
ENST00000683153.1:n.4384T>G
ENST00000683365.1:n.4444T>G
ENST00000683377.1:n.4342T>G
ENST00000683456.1:c.*1264T>G ENSP00000508318.1:n.*1264T>G
ENST00000683522.1:n.4342T>G
ENST00000683562.1:c.*2296T>G ENSP00000508265.1:n.*2296T>G
ENST00000683693.1:n.5774T>G
ENST00000683725.1:c.4127T>G ENSP00000507496.1:p.Ile1376Ser
ENST00000684010.1:n.4337T>G
ENST00000684157.1:n.5327T>G
ENST00000684253.1:n.4245T>G
ENST00000684288.1:c.*2299T>G ENSP00000507143.1:n.*2299T>G
ENST00000684313.1:n.3774T>G
ENST00000684332.1:n.4415T>G
ENST00000684371.1:n.4448T>G
ENST00000684404.1:n.5370T>G
ENST00000684442.1:n.4566T>G
ENST00000684555.1:c.*2339T>G ENSP00000507705.1:n.*2339T>G
ENST00000684571.1:c.3968T>G ENSP00000506935.1:p.Ile1323Ser
ENST00000684593.1:c.*3832T>G ENSP00000507005.1:n.*3832T>G
ENST00000684711.1:c.*2523T>G ENSP00000506841.1:n.*2523T>G
ENST00000302539.9:c.4130T>G ENSP00000303960.4:p.Ile1377Ser
ENST00000389817.8:c.4127T>G MANE Select ENSP00000374467.4:p.Ile1376Ser
ENST00000642271.1:c.4124T>G ENSP00000493749.1:p.Ile1375Ser
ENST00000642579.1:c.2181T>G
ENST00000642611.1:n.5212T>G
ENST00000642902.1:c.3909T>G
ENST00000643260.1:c.4127T>G ENSP00000494450.1:p.Ile1376Ser
ENST00000643562.1:c.*2249T>G ENSP00000496124.1:n.*2249T>G
ENST00000643925.1:c.2767T>G
ENST00000644057.1:n.204T>G
ENST00000644484.1:c.*3513T>G ENSP00000493558.1:n.*3513T>G
ENST00000644675.1:c.*2299T>G ENSP00000494567.1:n.*2299T>G
ENST00000644757.1:c.*3202+341T>G ENSP00000495085.1:n.*3202+341T>G
ENST00000644772.1:c.4193T>G ENSP00000494321.1:p.Ile1398Ser
ENST00000645004.1:n.1820T>G
ENST00000645076.1:c.3326T>G
ENST00000645417.1:c.1315T>G
ENST00000645744.1:c.*3892T>G ENSP00000494564.1:n.*3892T>G
ENST00000645760.1:c.4548T>G
ENST00000645884.1:c.*1410T>G ENSP00000495516.1:n.*1410T>G
ENST00000646003.1:c.*2229T>G ENSP00000495259.1:n.*2229T>G
ENST00000646207.1:c.*2964T>G ENSP00000495025.1:n.*2964T>G
ENST00000646276.1:c.*3531T>G ENSP00000496070.1:n.*3531T>G
ENST00000646592.1:c.3433T>G
ENST00000646902.1:c.4094T>G ENSP00000494101.1:p.Ile1365Ser
ENST00000646993.1:c.*2669T>G ENSP00000493720.1:n.*2669T>G
ENST00000647013.1:c.4133T>G ENSP00000496741.1:n.4133T>G
ENST00000647015.1:c.3878T>G ENSP00000495389.1:p.Ile1293Ser
ENST00000647086.1:c.*3713T>G ENSP00000493677.1:n.*3713T>G
ENST00000647158.1:c.*2414T>G ENSP00000495744.1:n.*2414T>G
ENST00000302539.8:c.4130T>G ENSP00000303960.4:p.Ile1377Ser
ENST00000389817.7:c.4127T>G ENSP00000374467.3:p.Ile1376Ser
ENST00000528374.1:c.609T>G
ENST00000532220.1:n.601T>G
NM_000352.4:c.4127T>G NP_000343.2:p.Ile1376Ser
NM_001287174.1:c.4130T>G NP_001274103.1:p.Ile1377Ser
XM_011520331.1:c.4127T>G XP_011518633.1:p.Ile1376Ser
XM_011520332.1:c.4130T>G XP_011518634.1:p.Ile1377Ser
XM_011520333.1:c.2627T>G XP_011518635.1:p.Ile876Ser
XR_930890.1:n.4193T>G
NM_001351295.1:c.4193T>G NP_001338224.1:p.Ile1398Ser
NM_001351296.1:c.4127T>G NP_001338225.1:p.Ile1376Ser
NM_001351297.1:c.4124T>G NP_001338226.1:p.Ile1375Ser
NR_147094.1:n.4422T>G
XM_017018197.2:c.4196T>G XP_016873686.1:p.Ile1399Ser
XM_017018199.1:c.4193T>G XP_016873688.1:p.Ile1398Ser
XM_017018201.2:c.4196T>G XP_016873690.1:p.Ile1399Ser
XM_017018202.1:c.2693T>G XP_016873691.1:p.Ile898Ser
XM_017018204.1:c.2084T>G XP_016873693.1:p.Ile695Ser
XM_024448668.1:c.2495T>G XP_024304436.1:p.Ile832Ser
XR_001747945.2:n.4268T>G
XR_001747946.2:n.4199T>G
XR_002957189.1:n.5849T>G
NM_000352.6:c.4127T>G MANE Select NP_000343.2:p.Ile1376Ser
NM_001287174.2:c.4130T>G NP_001274103.1:p.Ile1377Ser
NM_001351295.2:c.4193T>G NP_001338224.1:p.Ile1398Ser
NM_001351296.2:c.4127T>G NP_001338225.1:p.Ile1376Ser
NM_001351297.2:c.4124T>G NP_001338226.1:p.Ile1375Ser
NR_147094.2:n.4422T>G
NM_001287174.3:c.4130T>G NP_001274103.1:p.Ile1377Ser