Canonical Allele Identifier: CA379801456
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406665G>C , CM000673.2:g.17406665G>C GRCh38
NC_000011.9:g.17428212G>C , CM000673.1:g.17428212G>C GRCh37
NC_000011.8:g.17384788G>C NCBI36
NG_008867.1:g.75238C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2855C>G
ENST00000529967.6:n.1625C>G
ENST00000532220.2:n.1018C>G
ENST00000642611.2:n.3355C>G
ENST00000645004.2:n.785C>G
ENST00000682051.1:n.3302C>G
ENST00000682110.1:n.3355C>G
ENST00000682140.1:c.3283C>G ENSP00000507829.1:p.Leu1095Val
ENST00000682185.1:n.4591C>G
ENST00000682204.1:c.*1424C>G ENSP00000507094.1:n.*1424C>G
ENST00000682215.1:n.3352C>G
ENST00000682288.1:c.*1717C>G ENSP00000507506.1:n.*1717C>G
ENST00000682442.1:n.3575C>G
ENST00000682528.1:n.3432C>G
ENST00000682673.1:n.3299C>G
ENST00000682805.1:n.3352C>G
ENST00000682965.1:c.3283C>G ENSP00000508229.1:p.Leu1095Val
ENST00000683093.1:n.3454C>G
ENST00000683136.1:c.3283C>G ENSP00000507768.1:p.Leu1095Val
ENST00000683153.1:n.3511C>G
ENST00000683365.1:n.3457C>G
ENST00000683377.1:n.3355C>G
ENST00000683456.1:c.*423C>G ENSP00000508318.1:n.*423C>G
ENST00000683522.1:n.3355C>G
ENST00000683562.1:c.*1455C>G ENSP00000508265.1:n.*1455C>G
ENST00000683693.1:n.3432C>G
ENST00000683725.1:c.3286C>G ENSP00000507496.1:p.Leu1096Val
ENST00000684010.1:n.3350C>G
ENST00000684157.1:n.3355C>G
ENST00000684253.1:n.3258C>G
ENST00000684288.1:c.*1458C>G ENSP00000507143.1:n.*1458C>G
ENST00000684313.1:n.2787C>G
ENST00000684332.1:n.3428C>G
ENST00000684371.1:n.3461C>G
ENST00000684404.1:n.3398C>G
ENST00000684442.1:n.3355C>G
ENST00000684555.1:c.*1498C>G ENSP00000507705.1:n.*1498C>G
ENST00000684571.1:c.3127C>G ENSP00000506935.1:p.Leu1043Val
ENST00000684593.1:c.*2991C>G ENSP00000507005.1:n.*2991C>G
ENST00000684711.1:c.*1682C>G ENSP00000506841.1:n.*1682C>G
ENST00000302539.9:c.3289C>G ENSP00000303960.4:p.Leu1097Val
ENST00000389817.8:c.3286C>G MANE Select ENSP00000374467.4:p.Leu1096Val
ENST00000642271.1:c.3283C>G ENSP00000493749.1:p.Leu1095Val
ENST00000642579.1:c.1370C>G
ENST00000642611.1:n.3240C>G
ENST00000642902.1:c.3068C>G
ENST00000643260.1:c.3286C>G ENSP00000494450.1:p.Leu1096Val
ENST00000643562.1:c.*1262C>G ENSP00000496124.1:n.*1262C>G
ENST00000643925.1:c.1410C>G
ENST00000644447.1:c.1642C>G ENSP00000496282.1:p.Leu548Val
ENST00000644484.1:c.*1541C>G ENSP00000493558.1:n.*1541C>G
ENST00000644542.1:c.*3090C>G ENSP00000495532.1:n.*3090C>G
ENST00000644675.1:c.*1458C>G ENSP00000494567.1:n.*1458C>G
ENST00000644757.1:c.*1571C>G ENSP00000495085.1:n.*1571C>G
ENST00000644772.1:c.3352C>G ENSP00000494321.1:p.Leu1118Val
ENST00000645004.1:n.425C>G
ENST00000645076.1:c.2485C>G
ENST00000645417.1:c.452C>G
ENST00000645744.1:c.*1550C>G ENSP00000494564.1:n.*1550C>G
ENST00000645760.1:c.3561C>G
ENST00000645884.1:c.*423C>G ENSP00000495516.1:n.*423C>G
ENST00000646003.1:c.*1242C>G ENSP00000495259.1:n.*1242C>G
ENST00000646207.1:c.*1753C>G ENSP00000495025.1:n.*1753C>G
ENST00000646276.1:c.*1559C>G ENSP00000496070.1:n.*1559C>G
ENST00000646592.1:c.2592C>G
ENST00000646902.1:c.3283C>G ENSP00000494101.1:p.Leu1095Val
ENST00000646993.1:c.*1682C>G ENSP00000493720.1:n.*1682C>G
ENST00000647013.1:c.3292C>G ENSP00000496741.1:n.3292C>G
ENST00000647015.1:c.3037C>G ENSP00000495389.1:p.Leu1013Val
ENST00000647086.1:c.*3016C>G ENSP00000493677.1:n.*3016C>G
ENST00000647158.1:c.*1427C>G ENSP00000495744.1:n.*1427C>G
ENST00000302539.8:c.3289C>G ENSP00000303960.4:p.Leu1097Val
ENST00000389817.7:c.3286C>G ENSP00000374467.3:p.Leu1096Val
ENST00000524561.1:n.418C>G
ENST00000527905.5:c.*162C>G ENSP00000431653.1:n.*162C>G
NM_000352.4:c.3286C>G NP_000343.2:p.Leu1096Val
NM_001287174.1:c.3289C>G NP_001274103.1:p.Leu1097Val
XM_011520331.1:c.3286C>G XP_011518633.1:p.Leu1096Val
XM_011520332.1:c.3289C>G XP_011518634.1:p.Leu1097Val
XM_011520333.1:c.1786C>G XP_011518635.1:p.Leu596Val
XR_930890.1:n.3352C>G
XR_930891.1:n.3352C>G
XR_930892.1:n.3252C>G
XR_930893.1:n.3249C>G
NM_001351295.1:c.3352C>G NP_001338224.1:p.Leu1118Val
NM_001351296.1:c.3286C>G NP_001338225.1:p.Leu1096Val
NM_001351297.1:c.3283C>G NP_001338226.1:p.Leu1095Val
NR_147094.1:n.3435C>G
XM_017018197.2:c.3355C>G XP_016873686.1:p.Leu1119Val
XM_017018199.1:c.3352C>G XP_016873688.1:p.Leu1118Val
XM_017018201.2:c.3355C>G XP_016873690.1:p.Leu1119Val
XM_017018202.1:c.1852C>G XP_016873691.1:p.Leu618Val
XM_017018204.1:c.1243C>G XP_016873693.1:p.Leu415Val
XM_024448668.1:c.1654C>G XP_024304436.1:p.Leu552Val
XR_001747945.2:n.3427C>G
XR_001747946.2:n.3358C>G
XR_002957189.1:n.3507C>G
NM_000352.6:c.3286C>G MANE Select NP_000343.2:p.Leu1096Val
NM_001287174.2:c.3289C>G NP_001274103.1:p.Leu1097Val
NM_001351295.2:c.3352C>G NP_001338224.1:p.Leu1118Val
NM_001351296.2:c.3286C>G NP_001338225.1:p.Leu1096Val
NM_001351297.2:c.3283C>G NP_001338226.1:p.Leu1095Val
NR_147094.2:n.3435C>G
NM_001287174.3:c.3289C>G NP_001274103.1:p.Leu1097Val