Canonical Allele Identifier: CA473299645
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17426103G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404556G>C , CM000673.2:g.17404556G>C GRCh38
NC_000011.9:g.17426103G>C , CM000673.1:g.17426103G>C GRCh37
NC_000011.8:g.17382679G>C NCBI36
NG_008867.1:g.77347C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3082C>G
ENST00000528374.2:c.92C>G
ENST00000529967.6:n.1852C>G
ENST00000532220.2:n.1245C>G
ENST00000642611.2:n.3582C>G
ENST00000645004.2:n.1012C>G
ENST00000682051.1:n.3529C>G
ENST00000682110.1:n.3582C>G
ENST00000682140.1:c.3510C>G ENSP00000507829.1:p.Ala1170=
ENST00000682185.1:n.4818C>G
ENST00000682204.1:c.*1651C>G ENSP00000507094.1:n.*1651C>G
ENST00000682215.1:n.3579C>G
ENST00000682288.1:c.*1944C>G ENSP00000507506.1:n.*1944C>G
ENST00000682442.1:n.3802C>G
ENST00000682528.1:n.3659C>G
ENST00000682673.1:n.3526C>G
ENST00000682805.1:n.3579C>G
ENST00000682965.1:c.3396+938C>G ENSP00000508229.1:n.3396+938C>G
ENST00000683093.1:n.3681C>G
ENST00000683136.1:c.3510C>G ENSP00000507768.1:p.Ala1170=
ENST00000683153.1:n.3738C>G
ENST00000683365.1:n.3684C>G
ENST00000683377.1:n.3582C>G
ENST00000683456.1:c.*650C>G ENSP00000508318.1:n.*650C>G
ENST00000683522.1:n.3582C>G
ENST00000683562.1:c.*1682C>G ENSP00000508265.1:n.*1682C>G
ENST00000683693.1:n.3659C>G
ENST00000683725.1:c.3513C>G ENSP00000507496.1:p.Ala1171=
ENST00000684010.1:n.3577C>G
ENST00000684157.1:n.3582C>G
ENST00000684253.1:n.3485C>G
ENST00000684288.1:c.*1685C>G ENSP00000507143.1:n.*1685C>G
ENST00000684313.1:n.3014C>G
ENST00000684332.1:n.3655C>G
ENST00000684371.1:n.3688C>G
ENST00000684404.1:n.3625C>G
ENST00000684442.1:n.3582C>G
ENST00000684555.1:c.*1725C>G ENSP00000507705.1:n.*1725C>G
ENST00000684571.1:c.3354C>G ENSP00000506935.1:p.Ala1118=
ENST00000684593.1:c.*3218C>G ENSP00000507005.1:n.*3218C>G
ENST00000684711.1:c.*1909C>G ENSP00000506841.1:n.*1909C>G
ENST00000302539.9:c.3516C>G ENSP00000303960.4:p.Ala1172=
ENST00000389817.8:c.3513C>G MANE Select ENSP00000374467.4:p.Ala1171=
ENST00000642271.1:c.3510C>G ENSP00000493749.1:p.Ala1170=
ENST00000642579.1:c.1597C>G
ENST00000642611.1:n.3467C>G
ENST00000642902.1:c.3295C>G
ENST00000643260.1:c.3513C>G ENSP00000494450.1:p.Ala1171=
ENST00000643562.1:c.*1489C>G ENSP00000496124.1:n.*1489C>G
ENST00000643925.1:c.1637C>G
ENST00000644447.1:c.1869C>G ENSP00000496282.1:p.Ala623=
ENST00000644484.1:c.*1768C>G ENSP00000493558.1:n.*1768C>G
ENST00000644675.1:c.*1685C>G ENSP00000494567.1:n.*1685C>G
ENST00000644757.1:c.*1798C>G ENSP00000495085.1:n.*1798C>G
ENST00000644772.1:c.3579C>G ENSP00000494321.1:p.Ala1193=
ENST00000645004.1:n.652C>G
ENST00000645076.1:c.2712C>G
ENST00000645417.1:c.679C>G
ENST00000645744.1:c.*1777C>G ENSP00000494564.1:n.*1777C>G
ENST00000645760.1:c.3788C>G
ENST00000645884.1:c.*650C>G ENSP00000495516.1:n.*650C>G
ENST00000646003.1:c.*1469C>G ENSP00000495259.1:n.*1469C>G
ENST00000646207.1:c.*1980C>G ENSP00000495025.1:n.*1980C>G
ENST00000646276.1:c.*1786C>G ENSP00000496070.1:n.*1786C>G
ENST00000646592.1:c.2819C>G
ENST00000646902.1:c.3510C>G ENSP00000494101.1:p.Ala1170=
ENST00000646993.1:c.*1909C>G ENSP00000493720.1:n.*1909C>G
ENST00000647013.1:c.3519C>G ENSP00000496741.1:n.3519C>G
ENST00000647015.1:c.3264C>G ENSP00000495389.1:p.Ala1088=
ENST00000647086.1:c.*3243C>G ENSP00000493677.1:n.*3243C>G
ENST00000647158.1:c.*1654C>G ENSP00000495744.1:n.*1654C>G
ENST00000302539.8:c.3516C>G ENSP00000303960.4:p.Ala1172=
ENST00000389817.7:c.3513C>G ENSP00000374467.3:p.Ala1171=
ENST00000524561.1:n.645C>G
ENST00000527905.5:c.*389C>G ENSP00000431653.1:n.*389C>G
ENST00000531137.1:n.6C>G
NM_000352.4:c.3513C>G NP_000343.2:p.Ala1171=
NM_001287174.1:c.3516C>G NP_001274103.1:p.Ala1172=
XM_011520331.1:c.3513C>G XP_011518633.1:p.Ala1171=
XM_011520332.1:c.3516C>G XP_011518634.1:p.Ala1172=
XM_011520333.1:c.2013C>G XP_011518635.1:p.Ala671=
XR_930890.1:n.3579C>G
XR_930892.1:n.3479C>G
XR_930893.1:n.3476C>G
NM_001351295.1:c.3579C>G NP_001338224.1:p.Ala1193=
NM_001351296.1:c.3513C>G NP_001338225.1:p.Ala1171=
NM_001351297.1:c.3510C>G NP_001338226.1:p.Ala1170=
NR_147094.1:n.3662C>G
XM_017018197.2:c.3582C>G XP_016873686.1:p.Ala1194=
XM_017018199.1:c.3579C>G XP_016873688.1:p.Ala1193=
XM_017018201.2:c.3582C>G XP_016873690.1:p.Ala1194=
XM_017018202.1:c.2079C>G XP_016873691.1:p.Ala693=
XM_017018204.1:c.1470C>G XP_016873693.1:p.Ala490=
XM_024448668.1:c.1881C>G XP_024304436.1:p.Ala627=
XR_001747945.2:n.3654C>G
XR_001747946.2:n.3585C>G
XR_002957189.1:n.3734C>G
NM_000352.6:c.3513C>G MANE Select NP_000343.2:p.Ala1171=
NM_001287174.2:c.3516C>G NP_001274103.1:p.Ala1172=
NM_001351295.2:c.3579C>G NP_001338224.1:p.Ala1193=
NM_001351296.2:c.3513C>G NP_001338225.1:p.Ala1171=
NM_001351297.2:c.3510C>G NP_001338226.1:p.Ala1170=
NR_147094.2:n.3662C>G
NM_001287174.3:c.3516C>G NP_001274103.1:p.Ala1172=