Canonical Allele Identifier: CA473299713
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17426178G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404631G>C , CM000673.2:g.17404631G>C GRCh38
NC_000011.9:g.17426178G>C , CM000673.1:g.17426178G>C GRCh37
NC_000011.8:g.17382754G>C NCBI36
NG_008867.1:g.77272C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3007C>G
ENST00000528374.2:c.17C>G
ENST00000529967.6:n.1777C>G
ENST00000532220.2:n.1170C>G
ENST00000642611.2:n.3507C>G
ENST00000645004.2:n.937C>G
ENST00000682051.1:n.3454C>G
ENST00000682110.1:n.3507C>G
ENST00000682140.1:c.3435C>G ENSP00000507829.1:p.Thr1145=
ENST00000682185.1:n.4743C>G
ENST00000682204.1:c.*1576C>G ENSP00000507094.1:n.*1576C>G
ENST00000682215.1:n.3504C>G
ENST00000682288.1:c.*1869C>G ENSP00000507506.1:n.*1869C>G
ENST00000682442.1:n.3727C>G
ENST00000682528.1:n.3584C>G
ENST00000682673.1:n.3451C>G
ENST00000682805.1:n.3504C>G
ENST00000682965.1:c.3396+863C>G ENSP00000508229.1:n.3396+863C>G
ENST00000683093.1:n.3606C>G
ENST00000683136.1:c.3435C>G ENSP00000507768.1:p.Thr1145=
ENST00000683153.1:n.3663C>G
ENST00000683365.1:n.3609C>G
ENST00000683377.1:n.3507C>G
ENST00000683456.1:c.*575C>G ENSP00000508318.1:n.*575C>G
ENST00000683522.1:n.3507C>G
ENST00000683562.1:c.*1607C>G ENSP00000508265.1:n.*1607C>G
ENST00000683693.1:n.3584C>G
ENST00000683725.1:c.3438C>G ENSP00000507496.1:p.Thr1146=
ENST00000684010.1:n.3502C>G
ENST00000684157.1:n.3507C>G
ENST00000684253.1:n.3410C>G
ENST00000684288.1:c.*1610C>G ENSP00000507143.1:n.*1610C>G
ENST00000684313.1:n.2939C>G
ENST00000684332.1:n.3580C>G
ENST00000684371.1:n.3613C>G
ENST00000684404.1:n.3550C>G
ENST00000684442.1:n.3507C>G
ENST00000684555.1:c.*1650C>G ENSP00000507705.1:n.*1650C>G
ENST00000684571.1:c.3279C>G ENSP00000506935.1:p.Thr1093=
ENST00000684593.1:c.*3143C>G ENSP00000507005.1:n.*3143C>G
ENST00000684711.1:c.*1834C>G ENSP00000506841.1:n.*1834C>G
ENST00000302539.9:c.3441C>G ENSP00000303960.4:p.Thr1147=
ENST00000389817.8:c.3438C>G MANE Select ENSP00000374467.4:p.Thr1146=
ENST00000642271.1:c.3435C>G ENSP00000493749.1:p.Thr1145=
ENST00000642579.1:c.1522C>G
ENST00000642611.1:n.3392C>G
ENST00000642902.1:c.3220C>G
ENST00000643260.1:c.3438C>G ENSP00000494450.1:p.Thr1146=
ENST00000643562.1:c.*1414C>G ENSP00000496124.1:n.*1414C>G
ENST00000643925.1:c.1562C>G
ENST00000644447.1:c.1794C>G ENSP00000496282.1:p.Thr598=
ENST00000644484.1:c.*1693C>G ENSP00000493558.1:n.*1693C>G
ENST00000644675.1:c.*1610C>G ENSP00000494567.1:n.*1610C>G
ENST00000644757.1:c.*1723C>G ENSP00000495085.1:n.*1723C>G
ENST00000644772.1:c.3504C>G ENSP00000494321.1:p.Thr1168=
ENST00000645004.1:n.577C>G
ENST00000645076.1:c.2637C>G
ENST00000645417.1:c.604C>G
ENST00000645744.1:c.*1702C>G ENSP00000494564.1:n.*1702C>G
ENST00000645760.1:c.3713C>G
ENST00000645884.1:c.*575C>G ENSP00000495516.1:n.*575C>G
ENST00000646003.1:c.*1394C>G ENSP00000495259.1:n.*1394C>G
ENST00000646207.1:c.*1905C>G ENSP00000495025.1:n.*1905C>G
ENST00000646276.1:c.*1711C>G ENSP00000496070.1:n.*1711C>G
ENST00000646592.1:c.2744C>G
ENST00000646902.1:c.3435C>G ENSP00000494101.1:p.Thr1145=
ENST00000646993.1:c.*1834C>G ENSP00000493720.1:n.*1834C>G
ENST00000647013.1:c.3444C>G ENSP00000496741.1:n.3444C>G
ENST00000647015.1:c.3189C>G ENSP00000495389.1:p.Thr1063=
ENST00000647086.1:c.*3168C>G ENSP00000493677.1:n.*3168C>G
ENST00000647158.1:c.*1579C>G ENSP00000495744.1:n.*1579C>G
ENST00000302539.8:c.3441C>G ENSP00000303960.4:p.Thr1147=
ENST00000389817.7:c.3438C>G ENSP00000374467.3:p.Thr1146=
ENST00000524561.1:n.570C>G
ENST00000527905.5:c.*314C>G ENSP00000431653.1:n.*314C>G
NM_000352.4:c.3438C>G NP_000343.2:p.Thr1146=
NM_001287174.1:c.3441C>G NP_001274103.1:p.Thr1147=
XM_011520331.1:c.3438C>G XP_011518633.1:p.Thr1146=
XM_011520332.1:c.3441C>G XP_011518634.1:p.Thr1147=
XM_011520333.1:c.1938C>G XP_011518635.1:p.Thr646=
XR_930890.1:n.3504C>G
XR_930892.1:n.3404C>G
XR_930893.1:n.3401C>G
NM_001351295.1:c.3504C>G NP_001338224.1:p.Thr1168=
NM_001351296.1:c.3438C>G NP_001338225.1:p.Thr1146=
NM_001351297.1:c.3435C>G NP_001338226.1:p.Thr1145=
NR_147094.1:n.3587C>G
XM_017018197.2:c.3507C>G XP_016873686.1:p.Thr1169=
XM_017018199.1:c.3504C>G XP_016873688.1:p.Thr1168=
XM_017018201.2:c.3507C>G XP_016873690.1:p.Thr1169=
XM_017018202.1:c.2004C>G XP_016873691.1:p.Thr668=
XM_017018204.1:c.1395C>G XP_016873693.1:p.Thr465=
XM_024448668.1:c.1806C>G XP_024304436.1:p.Thr602=
XR_001747945.2:n.3579C>G
XR_001747946.2:n.3510C>G
XR_002957189.1:n.3659C>G
NM_000352.6:c.3438C>G MANE Select NP_000343.2:p.Thr1146=
NM_001287174.2:c.3441C>G NP_001274103.1:p.Thr1147=
NM_001351295.2:c.3504C>G NP_001338224.1:p.Thr1168=
NM_001351296.2:c.3438C>G NP_001338225.1:p.Thr1146=
NM_001351297.2:c.3435C>G NP_001338226.1:p.Thr1145=
NR_147094.2:n.3587C>G
NM_001287174.3:c.3441C>G NP_001274103.1:p.Thr1147=