Canonical Allele Identifier: CA379790820
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396998A>C , CM000673.2:g.17396998A>C GRCh38
NC_000011.9:g.17418545A>C , CM000673.1:g.17418545A>C GRCh37
NC_000011.8:g.17375121A>C NCBI36
NG_008867.1:g.84905T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3638T>G
ENST00000528374.2:c.628T>G
ENST00000529967.6:n.2376T>G
ENST00000532220.2:n.2285T>G
ENST00000642611.2:n.4252T>G
ENST00000644057.2:n.480T>G
ENST00000645004.2:n.1536T>G
ENST00000682051.1:n.4199T>G
ENST00000682110.1:n.4252T>G
ENST00000682140.1:c.3985+195T>G ENSP00000507829.1:n.3985+195T>G
ENST00000682185.1:n.5342T>G
ENST00000682204.1:c.*2175T>G ENSP00000507094.1:n.*2175T>G
ENST00000682215.1:n.4619T>G
ENST00000682288.1:c.*2468T>G ENSP00000507506.1:n.*2468T>G
ENST00000682442.1:n.4472T>G
ENST00000682528.1:n.4329T>G
ENST00000682673.1:n.4196T>G
ENST00000682805.1:n.4619T>G
ENST00000682965.1:c.*459T>G ENSP00000508229.1:n.*459T>G
ENST00000683093.1:n.4351T>G
ENST00000683136.1:c.3920T>G ENSP00000507768.1:p.Ile1307Ser
ENST00000683153.1:n.4294T>G
ENST00000683365.1:n.4354T>G
ENST00000683377.1:n.4252T>G
ENST00000683456.1:c.*1174T>G ENSP00000508318.1:n.*1174T>G
ENST00000683522.1:n.4252T>G
ENST00000683562.1:c.*2206T>G ENSP00000508265.1:n.*2206T>G
ENST00000683693.1:n.4699T>G
ENST00000683725.1:c.4037T>G ENSP00000507496.1:p.Ile1346Ser
ENST00000684010.1:n.4247T>G
ENST00000684157.1:n.4252T>G
ENST00000684253.1:n.4155T>G
ENST00000684288.1:c.*2209T>G ENSP00000507143.1:n.*2209T>G
ENST00000684313.1:n.3684T>G
ENST00000684332.1:n.4325T>G
ENST00000684371.1:n.4358T>G
ENST00000684404.1:n.4295T>G
ENST00000684442.1:n.4476T>G
ENST00000684555.1:c.*2249T>G ENSP00000507705.1:n.*2249T>G
ENST00000684571.1:c.3878T>G ENSP00000506935.1:p.Ile1293Ser
ENST00000684593.1:c.*3742T>G ENSP00000507005.1:n.*3742T>G
ENST00000684711.1:c.*2433T>G ENSP00000506841.1:n.*2433T>G
ENST00000302539.9:c.4040T>G ENSP00000303960.4:p.Ile1347Ser
ENST00000389817.8:c.4037T>G MANE Select ENSP00000374467.4:p.Ile1346Ser
ENST00000642271.1:c.4034T>G ENSP00000493749.1:p.Ile1345Ser
ENST00000642579.1:c.2091T>G
ENST00000642611.1:n.4137T>G
ENST00000642902.1:c.3819T>G
ENST00000643260.1:c.4037T>G ENSP00000494450.1:p.Ile1346Ser
ENST00000643562.1:c.*2159T>G ENSP00000496124.1:n.*2159T>G
ENST00000643925.1:c.2677T>G
ENST00000644057.1:n.114T>G
ENST00000644484.1:c.*2438T>G ENSP00000493558.1:n.*2438T>G
ENST00000644675.1:c.*2209T>G ENSP00000494567.1:n.*2209T>G
ENST00000644757.1:c.*2468T>G ENSP00000495085.1:n.*2468T>G
ENST00000644772.1:c.4103T>G ENSP00000494321.1:p.Ile1368Ser
ENST00000645004.1:n.1692T>G
ENST00000645076.1:c.3236T>G
ENST00000645417.1:c.1225T>G
ENST00000645744.1:c.*2817T>G ENSP00000494564.1:n.*2817T>G
ENST00000645760.1:c.4458T>G
ENST00000645884.1:c.*1320T>G ENSP00000495516.1:n.*1320T>G
ENST00000646003.1:c.*2139T>G ENSP00000495259.1:n.*2139T>G
ENST00000646207.1:c.*2874T>G ENSP00000495025.1:n.*2874T>G
ENST00000646276.1:c.*2456T>G ENSP00000496070.1:n.*2456T>G
ENST00000646592.1:c.3343T>G
ENST00000646902.1:c.4004T>G ENSP00000494101.1:p.Ile1335Ser
ENST00000646993.1:c.*2579T>G ENSP00000493720.1:n.*2579T>G
ENST00000647013.1:c.4043T>G ENSP00000496741.1:n.4043T>G
ENST00000647015.1:c.3788T>G ENSP00000495389.1:p.Ile1263Ser
ENST00000647086.1:c.*3623T>G ENSP00000493677.1:n.*3623T>G
ENST00000647158.1:c.*2324T>G ENSP00000495744.1:n.*2324T>G
ENST00000302539.8:c.4040T>G ENSP00000303960.4:p.Ile1347Ser
ENST00000389817.7:c.4037T>G ENSP00000374467.3:p.Ile1346Ser
ENST00000527905.5:c.*1059T>G ENSP00000431653.1:n.*1059T>G
ENST00000528374.1:c.519T>G
ENST00000531137.1:n.602T>G
ENST00000531891.1:c.375T>G
ENST00000532220.1:n.511T>G
NM_000352.4:c.4037T>G NP_000343.2:p.Ile1346Ser
NM_001287174.1:c.4040T>G NP_001274103.1:p.Ile1347Ser
XM_011520331.1:c.4037T>G XP_011518633.1:p.Ile1346Ser
XM_011520332.1:c.4040T>G XP_011518634.1:p.Ile1347Ser
XM_011520333.1:c.2537T>G XP_011518635.1:p.Ile846Ser
XR_930890.1:n.4103T>G
NM_001351295.1:c.4103T>G NP_001338224.1:p.Ile1368Ser
NM_001351296.1:c.4037T>G NP_001338225.1:p.Ile1346Ser
NM_001351297.1:c.4034T>G NP_001338226.1:p.Ile1345Ser
NR_147094.1:n.4332T>G
XM_017018197.2:c.4106T>G XP_016873686.1:p.Ile1369Ser
XM_017018199.1:c.4103T>G XP_016873688.1:p.Ile1368Ser
XM_017018201.2:c.4106T>G XP_016873690.1:p.Ile1369Ser
XM_017018202.1:c.2603T>G XP_016873691.1:p.Ile868Ser
XM_017018204.1:c.1994T>G XP_016873693.1:p.Ile665Ser
XM_024448668.1:c.2405T>G XP_024304436.1:p.Ile802Ser
XR_001747945.2:n.4178T>G
XR_001747946.2:n.4109T>G
XR_002957189.1:n.4774T>G
NM_000352.6:c.4037T>G MANE Select NP_000343.2:p.Ile1346Ser
NM_001287174.2:c.4040T>G NP_001274103.1:p.Ile1347Ser
NM_001351295.2:c.4103T>G NP_001338224.1:p.Ile1368Ser
NM_001351296.2:c.4037T>G NP_001338225.1:p.Ile1346Ser
NM_001351297.2:c.4034T>G NP_001338226.1:p.Ile1345Ser
NR_147094.2:n.4332T>G
NM_001287174.3:c.4040T>G NP_001274103.1:p.Ile1347Ser