Canonical Allele Identifier: CA473298319
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17417460G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395913G>C , CM000673.2:g.17395913G>C GRCh38
NC_000011.9:g.17417460G>C , CM000673.1:g.17417460G>C GRCh37
NC_000011.8:g.17374036G>C NCBI36
NG_008867.1:g.85990C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3738C>G
ENST00000528374.2:c.728C>G
ENST00000529967.6:n.2476C>G
ENST00000532220.2:n.3370C>G
ENST00000642611.2:n.5337C>G
ENST00000644057.2:n.580C>G
ENST00000645004.2:n.1636C>G
ENST00000682051.1:n.4299C>G
ENST00000682110.1:n.4352C>G
ENST00000682140.1:c.4003C>G ENSP00000507829.1:p.His1335Asp
ENST00000682185.1:n.5442C>G
ENST00000682204.1:c.*2275C>G ENSP00000507094.1:n.*2275C>G
ENST00000682215.1:n.4719C>G
ENST00000682288.1:c.*2568C>G ENSP00000507506.1:n.*2568C>G
ENST00000682442.1:n.4572C>G
ENST00000682528.1:n.4429C>G
ENST00000682673.1:n.4296C>G
ENST00000682805.1:n.4757C>G
ENST00000682965.1:c.*559C>G ENSP00000508229.1:n.*559C>G
ENST00000683093.1:n.5436C>G
ENST00000683136.1:c.4020C>G ENSP00000507768.1:p.Arg1340=
ENST00000683153.1:n.4394C>G
ENST00000683365.1:n.4454C>G
ENST00000683377.1:n.4352C>G
ENST00000683456.1:c.*1274C>G ENSP00000508318.1:n.*1274C>G
ENST00000683522.1:n.4352C>G
ENST00000683562.1:c.*2306C>G ENSP00000508265.1:n.*2306C>G
ENST00000683693.1:n.5784C>G
ENST00000683725.1:c.4137C>G ENSP00000507496.1:p.Arg1379=
ENST00000684010.1:n.4347C>G
ENST00000684157.1:n.5337C>G
ENST00000684253.1:n.4255C>G
ENST00000684288.1:c.*2309C>G ENSP00000507143.1:n.*2309C>G
ENST00000684313.1:n.3784C>G
ENST00000684332.1:n.4425C>G
ENST00000684371.1:n.4458C>G
ENST00000684404.1:n.5380C>G
ENST00000684442.1:n.4576C>G
ENST00000684555.1:c.*2349C>G ENSP00000507705.1:n.*2349C>G
ENST00000684571.1:c.3978C>G ENSP00000506935.1:p.Arg1326=
ENST00000684593.1:c.*3842C>G ENSP00000507005.1:n.*3842C>G
ENST00000684711.1:c.*2533C>G ENSP00000506841.1:n.*2533C>G
ENST00000302539.9:c.4140C>G ENSP00000303960.4:p.Arg1380=
ENST00000389817.8:c.4137C>G MANE Select ENSP00000374467.4:p.Arg1379=
ENST00000642271.1:c.4134C>G ENSP00000493749.1:p.Arg1378=
ENST00000642579.1:c.2191C>G
ENST00000642611.1:n.5222C>G
ENST00000642902.1:c.3919C>G
ENST00000643260.1:c.4137C>G ENSP00000494450.1:p.Arg1379=
ENST00000643562.1:c.*2259C>G ENSP00000496124.1:n.*2259C>G
ENST00000643925.1:c.2777C>G
ENST00000644057.1:n.214C>G
ENST00000644484.1:c.*3523C>G ENSP00000493558.1:n.*3523C>G
ENST00000644675.1:c.*2309C>G ENSP00000494567.1:n.*2309C>G
ENST00000644757.1:c.*3202+351C>G ENSP00000495085.1:n.*3202+351C>G
ENST00000644772.1:c.4203C>G ENSP00000494321.1:p.Arg1401=
ENST00000645004.1:n.1830C>G
ENST00000645076.1:c.3336C>G
ENST00000645417.1:c.1325C>G
ENST00000645744.1:c.*3902C>G ENSP00000494564.1:n.*3902C>G
ENST00000645760.1:c.4558C>G
ENST00000645884.1:c.*1420C>G ENSP00000495516.1:n.*1420C>G
ENST00000646003.1:c.*2239C>G ENSP00000495259.1:n.*2239C>G
ENST00000646207.1:c.*2974C>G ENSP00000495025.1:n.*2974C>G
ENST00000646276.1:c.*3541C>G ENSP00000496070.1:n.*3541C>G
ENST00000646592.1:c.3443C>G
ENST00000646902.1:c.4104C>G ENSP00000494101.1:p.Arg1368=
ENST00000646993.1:c.*2679C>G ENSP00000493720.1:n.*2679C>G
ENST00000647013.1:c.4143C>G ENSP00000496741.1:n.4143C>G
ENST00000647015.1:c.3888C>G ENSP00000495389.1:p.Arg1296=
ENST00000647086.1:c.*3723C>G ENSP00000493677.1:n.*3723C>G
ENST00000647158.1:c.*2424C>G ENSP00000495744.1:n.*2424C>G
ENST00000302539.8:c.4140C>G ENSP00000303960.4:p.Arg1380=
ENST00000389817.7:c.4137C>G ENSP00000374467.3:p.Arg1379=
ENST00000525022.1:n.3C>G
ENST00000526168.5:c.5C>G
ENST00000532220.1:n.611C>G
NM_000352.4:c.4137C>G NP_000343.2:p.Arg1379=
NM_001287174.1:c.4140C>G NP_001274103.1:p.Arg1380=
XM_011520331.1:c.4137C>G XP_011518633.1:p.Arg1379=
XM_011520332.1:c.4140C>G XP_011518634.1:p.Arg1380=
XM_011520333.1:c.2637C>G XP_011518635.1:p.Arg879=
XR_930890.1:n.4203C>G
NM_001351295.1:c.4203C>G NP_001338224.1:p.Arg1401=
NM_001351296.1:c.4137C>G NP_001338225.1:p.Arg1379=
NM_001351297.1:c.4134C>G NP_001338226.1:p.Arg1378=
NR_147094.1:n.4432C>G
XM_017018197.2:c.4206C>G XP_016873686.1:p.Arg1402=
XM_017018199.1:c.4203C>G XP_016873688.1:p.Arg1401=
XM_017018201.2:c.4206C>G XP_016873690.1:p.Arg1402=
XM_017018202.1:c.2703C>G XP_016873691.1:p.Arg901=
XM_017018204.1:c.2094C>G XP_016873693.1:p.Arg698=
XM_024448668.1:c.2505C>G XP_024304436.1:p.Arg835=
XR_001747945.2:n.4278C>G
XR_001747946.2:n.4209C>G
XR_002957189.1:n.5859C>G
NM_000352.6:c.4137C>G MANE Select NP_000343.2:p.Arg1379=
NM_001287174.2:c.4140C>G NP_001274103.1:p.Arg1380=
NM_001351295.2:c.4203C>G NP_001338224.1:p.Arg1401=
NM_001351296.2:c.4137C>G NP_001338225.1:p.Arg1379=
NM_001351297.2:c.4134C>G NP_001338226.1:p.Arg1378=
NR_147094.2:n.4432C>G
NM_001287174.3:c.4140C>G NP_001274103.1:p.Arg1380=