Canonical Allele Identifier: CA473298225
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17417198G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395651G>C , CM000673.2:g.17395651G>C GRCh38
NC_000011.9:g.17417198G>C , CM000673.1:g.17417198G>C GRCh37
NC_000011.8:g.17373774G>C NCBI36
NG_008867.1:g.86252C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3867C>G
ENST00000528374.2:c.857C>G
ENST00000529967.6:n.2605C>G
ENST00000532220.2:n.3499C>G
ENST00000642611.2:n.5599C>G
ENST00000644057.2:n.842C>G
ENST00000645004.2:n.1765C>G
ENST00000682051.1:n.4428C>G
ENST00000682110.1:n.4481C>G
ENST00000682140.1:c.*52C>G ENSP00000507829.1:n.*52C>G
ENST00000682185.1:n.5571C>G
ENST00000682204.1:c.*2404C>G ENSP00000507094.1:n.*2404C>G
ENST00000682215.1:n.4848C>G
ENST00000682288.1:c.*2697C>G ENSP00000507506.1:n.*2697C>G
ENST00000682442.1:n.4701C>G
ENST00000682528.1:n.4558C>G
ENST00000682673.1:n.4425C>G
ENST00000682805.1:n.4886C>G
ENST00000682965.1:c.*688C>G ENSP00000508229.1:n.*688C>G
ENST00000683093.1:n.5565C>G
ENST00000683136.1:c.4149C>G ENSP00000507768.1:p.Ser1383=
ENST00000683153.1:n.4523C>G
ENST00000683365.1:n.4583C>G
ENST00000683377.1:n.4481C>G
ENST00000683456.1:c.*1403C>G ENSP00000508318.1:n.*1403C>G
ENST00000683522.1:n.4481C>G
ENST00000683562.1:c.*2435C>G ENSP00000508265.1:n.*2435C>G
ENST00000683693.1:n.6046C>G
ENST00000683725.1:c.4266C>G ENSP00000507496.1:p.Ser1422=
ENST00000684010.1:n.4476C>G
ENST00000684157.1:n.5466C>G
ENST00000684253.1:n.4384C>G
ENST00000684288.1:c.*2438C>G ENSP00000507143.1:n.*2438C>G
ENST00000684313.1:n.3913C>G
ENST00000684332.1:n.4554C>G
ENST00000684371.1:n.4587C>G
ENST00000684404.1:n.5509C>G
ENST00000684442.1:n.4705C>G
ENST00000684555.1:c.*2478C>G ENSP00000507705.1:n.*2478C>G
ENST00000684571.1:c.4107C>G ENSP00000506935.1:p.Ser1369=
ENST00000684593.1:c.*3971C>G ENSP00000507005.1:n.*3971C>G
ENST00000684711.1:c.*2662C>G ENSP00000506841.1:n.*2662C>G
ENST00000302539.9:c.4269C>G ENSP00000303960.4:p.Ser1423=
ENST00000389817.8:c.4266C>G MANE Select ENSP00000374467.4:p.Ser1422=
ENST00000642271.1:c.4263C>G ENSP00000493749.1:p.Ser1421=
ENST00000642579.1:c.2320C>G
ENST00000642611.1:n.5484C>G
ENST00000642902.1:c.4048C>G
ENST00000643260.1:c.4266C>G ENSP00000494450.1:p.Ser1422=
ENST00000643562.1:c.*2388C>G ENSP00000496124.1:n.*2388C>G
ENST00000643925.1:c.2906C>G
ENST00000644057.1:n.343C>G
ENST00000644484.1:c.*3652C>G ENSP00000493558.1:n.*3652C>G
ENST00000644675.1:c.*2438C>G ENSP00000494567.1:n.*2438C>G
ENST00000644757.1:c.*3202+613C>G ENSP00000495085.1:n.*3202+613C>G
ENST00000644772.1:c.4332C>G ENSP00000494321.1:p.Ser1444=
ENST00000645004.1:n.1959C>G
ENST00000645076.1:c.3465C>G
ENST00000645417.1:c.1454C>G
ENST00000645744.1:c.*3964-13C>G ENSP00000494564.1:n.*3964-13C>G
ENST00000645760.1:c.4687C>G
ENST00000645884.1:c.*1549C>G ENSP00000495516.1:n.*1549C>G
ENST00000646003.1:c.*2301-13C>G ENSP00000495259.1:n.*2301-13C>G
ENST00000646207.1:c.*3103C>G ENSP00000495025.1:n.*3103C>G
ENST00000646276.1:c.*3670C>G ENSP00000496070.1:n.*3670C>G
ENST00000646592.1:c.3572C>G
ENST00000646902.1:c.4233C>G ENSP00000494101.1:p.Ser1411=
ENST00000646993.1:c.*2808C>G ENSP00000493720.1:n.*2808C>G
ENST00000647013.1:c.4272C>G ENSP00000496741.1:n.4272C>G
ENST00000647015.1:c.4017C>G ENSP00000495389.1:p.Ser1339=
ENST00000647086.1:c.*3852C>G ENSP00000493677.1:n.*3852C>G
ENST00000647158.1:c.*2553C>G ENSP00000495744.1:n.*2553C>G
ENST00000302539.8:c.4269C>G ENSP00000303960.4:p.Ser1423=
ENST00000389817.7:c.4266C>G ENSP00000374467.3:p.Ser1422=
ENST00000525022.1:n.265C>G
ENST00000526037.5:n.130C>G
ENST00000526168.5:c.67-13C>G
ENST00000531642.5:c.102C>G
NM_000352.4:c.4266C>G NP_000343.2:p.Ser1422=
NM_001287174.1:c.4269C>G NP_001274103.1:p.Ser1423=
XM_011520331.1:c.4266C>G XP_011518633.1:p.Ser1422=
XM_011520332.1:c.4269C>G XP_011518634.1:p.Ser1423=
XM_011520333.1:c.2766C>G XP_011518635.1:p.Ser922=
XR_930890.1:n.4332C>G
NM_001351295.1:c.4332C>G NP_001338224.1:p.Ser1444=
NM_001351296.1:c.4266C>G NP_001338225.1:p.Ser1422=
NM_001351297.1:c.4263C>G NP_001338226.1:p.Ser1421=
NR_147094.1:n.4561C>G
XM_017018197.2:c.4335C>G XP_016873686.1:p.Ser1445=
XM_017018199.1:c.4332C>G XP_016873688.1:p.Ser1444=
XM_017018201.2:c.4335C>G XP_016873690.1:p.Ser1445=
XM_017018202.1:c.2832C>G XP_016873691.1:p.Ser944=
XM_017018204.1:c.2223C>G XP_016873693.1:p.Ser741=
XM_024448668.1:c.2634C>G XP_024304436.1:p.Ser878=
XR_001747945.2:n.4407C>G
XR_001747946.2:n.4338C>G
XR_002957189.1:n.6121C>G
NM_000352.6:c.4266C>G MANE Select NP_000343.2:p.Ser1422=
NM_001287174.2:c.4269C>G NP_001274103.1:p.Ser1423=
NM_001351295.2:c.4332C>G NP_001338224.1:p.Ser1444=
NM_001351296.2:c.4266C>G NP_001338225.1:p.Ser1422=
NM_001351297.2:c.4263C>G NP_001338226.1:p.Ser1421=
NR_147094.2:n.4561C>G
NM_001287174.3:c.4269C>G NP_001274103.1:p.Ser1423=