Canonical Allele Identifier: CA379782825
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394291G>C , CM000673.2:g.17394291G>C GRCh38
NC_000011.9:g.17415838G>C , CM000673.1:g.17415838G>C GRCh37
NC_000011.8:g.17372414G>C NCBI36
NG_008867.1:g.87612C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4121C>G
ENST00000526037.6:n.455C>G
ENST00000528374.2:c.1111C>G
ENST00000529967.6:n.2859C>G
ENST00000532220.2:n.3753C>G
ENST00000642611.2:n.5853C>G
ENST00000644057.2:n.1096C>G
ENST00000645004.2:n.2019C>G
ENST00000682051.1:n.4682C>G
ENST00000682110.1:n.4735C>G
ENST00000682140.1:c.*306C>G ENSP00000507829.1:n.*306C>G
ENST00000682185.1:n.5825C>G
ENST00000682204.1:c.*2658C>G ENSP00000507094.1:n.*2658C>G
ENST00000682215.1:n.5102C>G
ENST00000682288.1:c.*2951C>G ENSP00000507506.1:n.*2951C>G
ENST00000682442.1:n.4955C>G
ENST00000682528.1:n.4812C>G
ENST00000682673.1:n.4679C>G
ENST00000682805.1:n.5140C>G
ENST00000682965.1:c.*942C>G ENSP00000508229.1:n.*942C>G
ENST00000683093.1:n.5715C>G
ENST00000683136.1:c.4403C>G ENSP00000507768.1:p.Ala1468Gly
ENST00000683153.1:n.4777C>G
ENST00000683365.1:n.4837C>G
ENST00000683377.1:n.4631C>G
ENST00000683456.1:c.*1657C>G ENSP00000508318.1:n.*1657C>G
ENST00000683522.1:n.4817C>G
ENST00000683562.1:c.*2585C>G ENSP00000508265.1:n.*2585C>G
ENST00000683693.1:n.6196C>G
ENST00000683725.1:c.4416C>G ENSP00000507496.1:p.Gly1472=
ENST00000684010.1:n.4730C>G
ENST00000684014.1:n.707C>G
ENST00000684157.1:n.5720C>G
ENST00000684253.1:n.4638C>G
ENST00000684288.1:c.*2692C>G ENSP00000507143.1:n.*2692C>G
ENST00000684313.1:n.4167C>G
ENST00000684332.1:n.4808C>G
ENST00000684371.1:n.4841C>G
ENST00000684404.1:n.5763C>G
ENST00000684442.1:n.4959C>G
ENST00000684555.1:c.*2732C>G ENSP00000507705.1:n.*2732C>G
ENST00000684571.1:c.4361C>G ENSP00000506935.1:p.Ala1454Gly
ENST00000684593.1:c.*4225C>G ENSP00000507005.1:n.*4225C>G
ENST00000684711.1:c.*2916C>G ENSP00000506841.1:n.*2916C>G
ENST00000302539.9:c.4523C>G ENSP00000303960.4:p.Ala1508Gly
ENST00000389817.8:c.4520C>G MANE Select ENSP00000374467.4:p.Ala1507Gly
ENST00000642271.1:c.4517C>G ENSP00000493749.1:p.Ala1506Gly
ENST00000642579.1:c.2574C>G
ENST00000642611.1:n.5738C>G
ENST00000642902.1:c.4302C>G
ENST00000643260.1:c.4520C>G ENSP00000494450.1:p.Ala1507Gly
ENST00000643562.1:c.*2642C>G ENSP00000496124.1:n.*2642C>G
ENST00000643925.1:c.3160C>G
ENST00000644057.1:n.679C>G
ENST00000644484.1:c.*3906C>G ENSP00000493558.1:n.*3906C>G
ENST00000644675.1:c.*2692C>G ENSP00000494567.1:n.*2692C>G
ENST00000644757.1:c.*3203-1311C>G ENSP00000495085.1:n.*3203-1311C>G
ENST00000644772.1:c.4586C>G ENSP00000494321.1:p.Ala1529Gly
ENST00000645004.1:n.2213C>G
ENST00000645076.1:c.3615C>G
ENST00000645417.1:c.1708C>G
ENST00000645744.1:c.*4205C>G ENSP00000494564.1:n.*4205C>G
ENST00000645760.1:c.4941C>G
ENST00000645884.1:c.*1803C>G ENSP00000495516.1:n.*1803C>G
ENST00000646003.1:c.*2542C>G ENSP00000495259.1:n.*2542C>G
ENST00000646207.1:c.*3357C>G ENSP00000495025.1:n.*3357C>G
ENST00000646276.1:c.*3924C>G ENSP00000496070.1:n.*3924C>G
ENST00000646592.1:c.3826C>G
ENST00000646902.1:c.4487C>G ENSP00000494101.1:p.Ala1496Gly
ENST00000646993.1:c.*2958C>G ENSP00000493720.1:n.*2958C>G
ENST00000647013.1:c.4526C>G ENSP00000496741.1:n.4526C>G
ENST00000647015.1:c.4271C>G ENSP00000495389.1:p.Ala1424Gly
ENST00000647086.1:c.*4106C>G ENSP00000493677.1:n.*4106C>G
ENST00000647158.1:c.*2807C>G ENSP00000495744.1:n.*2807C>G
ENST00000302539.8:c.4523C>G ENSP00000303960.4:p.Ala1508Gly
ENST00000389817.7:c.4520C>G ENSP00000374467.3:p.Ala1507Gly
ENST00000525022.1:n.415C>G
ENST00000526037.5:n.280C>G
ENST00000526168.5:c.308C>G
ENST00000531642.5:c.551C>G
NM_000352.4:c.4520C>G NP_000343.2:p.Ala1507Gly
NM_001287174.1:c.4523C>G NP_001274103.1:p.Ala1508Gly
XM_011520331.1:c.4520C>G XP_011518633.1:p.Ala1507Gly
XM_011520332.1:c.4419C>G XP_011518634.1:p.Gly1473=
XM_011520333.1:c.3020C>G XP_011518635.1:p.Ala1007Gly
XR_930890.1:n.4482C>G
NM_001351295.1:c.4586C>G NP_001338224.1:p.Ala1529Gly
NM_001351296.1:c.4520C>G NP_001338225.1:p.Ala1507Gly
NM_001351297.1:c.4517C>G NP_001338226.1:p.Ala1506Gly
NR_147094.1:n.4815C>G
XM_017018197.2:c.4589C>G XP_016873686.1:p.Ala1530Gly
XM_017018199.1:c.4586C>G XP_016873688.1:p.Ala1529Gly
XM_017018201.2:c.4485C>G XP_016873690.1:p.Gly1495=
XM_017018202.1:c.3086C>G XP_016873691.1:p.Ala1029Gly
XM_017018204.1:c.2477C>G XP_016873693.1:p.Ala826Gly
XM_024448668.1:c.2888C>G XP_024304436.1:p.Ala963Gly
XR_001747945.2:n.4557C>G
XR_001747946.2:n.4488C>G
XR_002957189.1:n.6271C>G
NM_000352.6:c.4520C>G MANE Select NP_000343.2:p.Ala1507Gly
NM_001287174.2:c.4523C>G NP_001274103.1:p.Ala1508Gly
NM_001351295.2:c.4586C>G NP_001338224.1:p.Ala1529Gly
NM_001351296.2:c.4520C>G NP_001338225.1:p.Ala1507Gly
NM_001351297.2:c.4517C>G NP_001338226.1:p.Ala1506Gly
NR_147094.2:n.4815C>G
NM_001287174.3:c.4523C>G NP_001274103.1:p.Ala1508Gly