Canonical Allele Identifier: CA473298015
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17415253G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393706G>C , CM000673.2:g.17393706G>C GRCh38
NC_000011.9:g.17415253G>C , CM000673.1:g.17415253G>C GRCh37
NC_000011.8:g.17371829G>C NCBI36
NG_008867.1:g.88197C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4200C>G
ENST00000526037.6:n.534C>G
ENST00000528374.2:c.1190C>G
ENST00000529967.6:n.2938C>G
ENST00000532220.2:n.3832C>G
ENST00000642611.2:n.5932C>G
ENST00000644057.2:n.1175C>G
ENST00000645004.2:n.2098C>G
ENST00000682051.1:n.4761C>G
ENST00000682110.1:n.4814C>G
ENST00000682140.1:c.*385C>G ENSP00000507829.1:n.*385C>G
ENST00000682185.1:n.5904C>G
ENST00000682204.1:c.*2737C>G ENSP00000507094.1:n.*2737C>G
ENST00000682215.1:n.5181C>G
ENST00000682288.1:c.*3030C>G ENSP00000507506.1:n.*3030C>G
ENST00000682442.1:n.5034C>G
ENST00000682528.1:n.4891C>G
ENST00000682673.1:n.4758C>G
ENST00000682805.1:n.5219C>G
ENST00000682965.1:c.*1021C>G ENSP00000508229.1:n.*1021C>G
ENST00000683093.1:n.5794C>G
ENST00000683136.1:c.4482C>G ENSP00000507768.1:p.Val1494=
ENST00000683153.1:n.4856C>G
ENST00000683365.1:n.4916C>G
ENST00000683377.1:n.4710C>G
ENST00000683456.1:c.*1736C>G ENSP00000508318.1:n.*1736C>G
ENST00000683522.1:n.4896C>G
ENST00000683562.1:c.*2664C>G ENSP00000508265.1:n.*2664C>G
ENST00000683693.1:n.6275C>G
ENST00000683725.1:c.*64C>G ENSP00000507496.1:n.*64C>G
ENST00000684010.1:n.4809C>G
ENST00000684014.1:n.786C>G
ENST00000684157.1:n.5799C>G
ENST00000684253.1:n.4717C>G
ENST00000684288.1:c.*2771C>G ENSP00000507143.1:n.*2771C>G
ENST00000684313.1:n.4246C>G
ENST00000684332.1:n.4887C>G
ENST00000684371.1:n.4920C>G
ENST00000684404.1:n.5842C>G
ENST00000684442.1:n.5038C>G
ENST00000684555.1:c.*2811C>G ENSP00000507705.1:n.*2811C>G
ENST00000684571.1:c.4440C>G ENSP00000506935.1:p.Val1480=
ENST00000684593.1:c.*4304C>G ENSP00000507005.1:n.*4304C>G
ENST00000684711.1:c.*2995C>G ENSP00000506841.1:n.*2995C>G
ENST00000302539.9:c.4602C>G ENSP00000303960.4:p.Val1534=
ENST00000389817.8:c.4599C>G MANE Select ENSP00000374467.4:p.Val1533=
ENST00000642271.1:c.4596C>G ENSP00000493749.1:p.Val1532=
ENST00000642579.1:c.2653C>G
ENST00000642611.1:n.5817C>G
ENST00000642902.1:c.4381C>G
ENST00000643260.1:c.4599C>G ENSP00000494450.1:p.Val1533=
ENST00000643562.1:c.*2721C>G ENSP00000496124.1:n.*2721C>G
ENST00000643925.1:c.3185+560C>G
ENST00000644057.1:n.758C>G
ENST00000644484.1:c.*3985C>G ENSP00000493558.1:n.*3985C>G
ENST00000644675.1:c.*2771C>G ENSP00000494567.1:n.*2771C>G
ENST00000644757.1:c.*3203-726C>G ENSP00000495085.1:n.*3203-726C>G
ENST00000644772.1:c.4665C>G ENSP00000494321.1:p.Val1555=
ENST00000645004.1:n.2292C>G
ENST00000645076.1:c.3694C>G
ENST00000645417.1:c.1787C>G
ENST00000645744.1:c.*4284C>G ENSP00000494564.1:n.*4284C>G
ENST00000645760.1:c.5020C>G
ENST00000645884.1:c.*1882C>G ENSP00000495516.1:n.*1882C>G
ENST00000646003.1:c.*2621C>G ENSP00000495259.1:n.*2621C>G
ENST00000646207.1:c.*3436C>G ENSP00000495025.1:n.*3436C>G
ENST00000646276.1:c.*4003C>G ENSP00000496070.1:n.*4003C>G
ENST00000646592.1:c.3905C>G
ENST00000646902.1:c.4566C>G ENSP00000494101.1:p.Val1522=
ENST00000646993.1:c.*3037C>G ENSP00000493720.1:n.*3037C>G
ENST00000647015.1:c.4350C>G ENSP00000495389.1:p.Val1450=
ENST00000647086.1:c.*4185C>G ENSP00000493677.1:n.*4185C>G
ENST00000647158.1:c.*2886C>G ENSP00000495744.1:n.*2886C>G
ENST00000302539.8:c.4602C>G ENSP00000303960.4:p.Val1534=
ENST00000389817.7:c.4599C>G ENSP00000374467.3:p.Val1533=
ENST00000525022.1:n.494C>G
ENST00000526037.5:n.359C>G
ENST00000526168.5:c.387C>G
ENST00000531642.5:c.630C>G
NM_000352.4:c.4599C>G NP_000343.2:p.Val1533=
NM_001287174.1:c.4602C>G NP_001274103.1:p.Val1534=
XM_011520331.1:c.4599C>G XP_011518633.1:p.Val1533=
XM_011520333.1:c.3099C>G XP_011518635.1:p.Val1033=
XR_930890.1:n.4561C>G
NM_001351295.1:c.4665C>G NP_001338224.1:p.Val1555=
NM_001351296.1:c.4599C>G NP_001338225.1:p.Val1533=
NM_001351297.1:c.4596C>G NP_001338226.1:p.Val1532=
NR_147094.1:n.4894C>G
XM_017018197.2:c.4668C>G XP_016873686.1:p.Val1556=
XM_017018199.1:c.4665C>G XP_016873688.1:p.Val1555=
XM_017018202.1:c.3165C>G XP_016873691.1:p.Val1055=
XM_017018204.1:c.2556C>G XP_016873693.1:p.Val852=
XM_024448668.1:c.2967C>G XP_024304436.1:p.Val989=
XR_001747945.2:n.4636C>G
XR_001747946.2:n.4567C>G
XR_002957189.1:n.6350C>G
NM_000352.6:c.4599C>G MANE Select NP_000343.2:p.Val1533=
NM_001287174.2:c.4602C>G NP_001274103.1:p.Val1534=
NM_001351295.2:c.4665C>G NP_001338224.1:p.Val1555=
NM_001351296.2:c.4599C>G NP_001338225.1:p.Val1533=
NM_001351297.2:c.4596C>G NP_001338226.1:p.Val1532=
NR_147094.2:n.4894C>G
NM_001287174.3:c.4602C>G NP_001274103.1:p.Val1534=