Canonical Allele Identifier: CA379798039
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404584A>C , CM000673.2:g.17404584A>C GRCh38
NC_000011.9:g.17426131A>C , CM000673.1:g.17426131A>C GRCh37
NC_000011.8:g.17382707A>C NCBI36
NG_008867.1:g.77319T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3054T>G
ENST00000528374.2:c.64T>G
ENST00000529967.6:n.1824T>G
ENST00000532220.2:n.1217T>G
ENST00000642611.2:n.3554T>G
ENST00000645004.2:n.984T>G
ENST00000682051.1:n.3501T>G
ENST00000682110.1:n.3554T>G
ENST00000682140.1:c.3482T>G ENSP00000507829.1:p.Val1161Gly
ENST00000682185.1:n.4790T>G
ENST00000682204.1:c.*1623T>G ENSP00000507094.1:n.*1623T>G
ENST00000682215.1:n.3551T>G
ENST00000682288.1:c.*1916T>G ENSP00000507506.1:n.*1916T>G
ENST00000682442.1:n.3774T>G
ENST00000682528.1:n.3631T>G
ENST00000682673.1:n.3498T>G
ENST00000682805.1:n.3551T>G
ENST00000682965.1:c.3396+910T>G ENSP00000508229.1:n.3396+910T>G
ENST00000683093.1:n.3653T>G
ENST00000683136.1:c.3482T>G ENSP00000507768.1:p.Val1161Gly
ENST00000683153.1:n.3710T>G
ENST00000683365.1:n.3656T>G
ENST00000683377.1:n.3554T>G
ENST00000683456.1:c.*622T>G ENSP00000508318.1:n.*622T>G
ENST00000683522.1:n.3554T>G
ENST00000683562.1:c.*1654T>G ENSP00000508265.1:n.*1654T>G
ENST00000683693.1:n.3631T>G
ENST00000683725.1:c.3485T>G ENSP00000507496.1:p.Val1162Gly
ENST00000684010.1:n.3549T>G
ENST00000684157.1:n.3554T>G
ENST00000684253.1:n.3457T>G
ENST00000684288.1:c.*1657T>G ENSP00000507143.1:n.*1657T>G
ENST00000684313.1:n.2986T>G
ENST00000684332.1:n.3627T>G
ENST00000684371.1:n.3660T>G
ENST00000684404.1:n.3597T>G
ENST00000684442.1:n.3554T>G
ENST00000684555.1:c.*1697T>G ENSP00000507705.1:n.*1697T>G
ENST00000684571.1:c.3326T>G ENSP00000506935.1:p.Val1109Gly
ENST00000684593.1:c.*3190T>G ENSP00000507005.1:n.*3190T>G
ENST00000684711.1:c.*1881T>G ENSP00000506841.1:n.*1881T>G
ENST00000302539.9:c.3488T>G ENSP00000303960.4:p.Val1163Gly
ENST00000389817.8:c.3485T>G MANE Select ENSP00000374467.4:p.Val1162Gly
ENST00000642271.1:c.3482T>G ENSP00000493749.1:p.Val1161Gly
ENST00000642579.1:c.1569T>G
ENST00000642611.1:n.3439T>G
ENST00000642902.1:c.3267T>G
ENST00000643260.1:c.3485T>G ENSP00000494450.1:p.Val1162Gly
ENST00000643562.1:c.*1461T>G ENSP00000496124.1:n.*1461T>G
ENST00000643925.1:c.1609T>G
ENST00000644447.1:c.1841T>G ENSP00000496282.1:p.Val614Gly
ENST00000644484.1:c.*1740T>G ENSP00000493558.1:n.*1740T>G
ENST00000644675.1:c.*1657T>G ENSP00000494567.1:n.*1657T>G
ENST00000644757.1:c.*1770T>G ENSP00000495085.1:n.*1770T>G
ENST00000644772.1:c.3551T>G ENSP00000494321.1:p.Val1184Gly
ENST00000645004.1:n.624T>G
ENST00000645076.1:c.2684T>G
ENST00000645417.1:c.651T>G
ENST00000645744.1:c.*1749T>G ENSP00000494564.1:n.*1749T>G
ENST00000645760.1:c.3760T>G
ENST00000645884.1:c.*622T>G ENSP00000495516.1:n.*622T>G
ENST00000646003.1:c.*1441T>G ENSP00000495259.1:n.*1441T>G
ENST00000646207.1:c.*1952T>G ENSP00000495025.1:n.*1952T>G
ENST00000646276.1:c.*1758T>G ENSP00000496070.1:n.*1758T>G
ENST00000646592.1:c.2791T>G
ENST00000646902.1:c.3482T>G ENSP00000494101.1:p.Val1161Gly
ENST00000646993.1:c.*1881T>G ENSP00000493720.1:n.*1881T>G
ENST00000647013.1:c.3491T>G ENSP00000496741.1:n.3491T>G
ENST00000647015.1:c.3236T>G ENSP00000495389.1:p.Val1079Gly
ENST00000647086.1:c.*3215T>G ENSP00000493677.1:n.*3215T>G
ENST00000647158.1:c.*1626T>G ENSP00000495744.1:n.*1626T>G
ENST00000302539.8:c.3488T>G ENSP00000303960.4:p.Val1163Gly
ENST00000389817.7:c.3485T>G ENSP00000374467.3:p.Val1162Gly
ENST00000524561.1:n.617T>G
ENST00000527905.5:c.*361T>G ENSP00000431653.1:n.*361T>G
NM_000352.4:c.3485T>G NP_000343.2:p.Val1162Gly
NM_001287174.1:c.3488T>G NP_001274103.1:p.Val1163Gly
XM_011520331.1:c.3485T>G XP_011518633.1:p.Val1162Gly
XM_011520332.1:c.3488T>G XP_011518634.1:p.Val1163Gly
XM_011520333.1:c.1985T>G XP_011518635.1:p.Val662Gly
XR_930890.1:n.3551T>G
XR_930892.1:n.3451T>G
XR_930893.1:n.3448T>G
NM_001351295.1:c.3551T>G NP_001338224.1:p.Val1184Gly
NM_001351296.1:c.3485T>G NP_001338225.1:p.Val1162Gly
NM_001351297.1:c.3482T>G NP_001338226.1:p.Val1161Gly
NR_147094.1:n.3634T>G
XM_017018197.2:c.3554T>G XP_016873686.1:p.Val1185Gly
XM_017018199.1:c.3551T>G XP_016873688.1:p.Val1184Gly
XM_017018201.2:c.3554T>G XP_016873690.1:p.Val1185Gly
XM_017018202.1:c.2051T>G XP_016873691.1:p.Val684Gly
XM_017018204.1:c.1442T>G XP_016873693.1:p.Val481Gly
XM_024448668.1:c.1853T>G XP_024304436.1:p.Val618Gly
XR_001747945.2:n.3626T>G
XR_001747946.2:n.3557T>G
XR_002957189.1:n.3706T>G
NM_000352.6:c.3485T>G MANE Select NP_000343.2:p.Val1162Gly
NM_001287174.2:c.3488T>G NP_001274103.1:p.Val1163Gly
NM_001351295.2:c.3551T>G NP_001338224.1:p.Val1184Gly
NM_001351296.2:c.3485T>G NP_001338225.1:p.Val1162Gly
NM_001351297.2:c.3482T>G NP_001338226.1:p.Val1161Gly
NR_147094.2:n.3634T>G
NM_001287174.3:c.3488T>G NP_001274103.1:p.Val1163Gly