Canonical Allele Identifier: CA340874
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 9109
dbSNP Id: rs193929369

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404515G>T , CM000673.2:g.17404515G>T GRCh38
NC_000011.9:g.17426062G>T , CM000673.1:g.17426062G>T GRCh37
NC_000011.8:g.17382638G>T NCBI36
NG_008867.1:g.77388C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3123C>A
ENST00000528374.2:c.133C>A
ENST00000529967.6:n.1893C>A
ENST00000532220.2:n.1286C>A
ENST00000642611.2:n.3623C>A
ENST00000645004.2:n.1053C>A
ENST00000682051.1:n.3570C>A
ENST00000682110.1:n.3623C>A
ENST00000682140.1:c.3551C>A ENSP00000507829.1:p.Ser1184Tyr
ENST00000682185.1:n.4859C>A
ENST00000682204.1:c.*1692C>A ENSP00000507094.1:n.*1692C>A
ENST00000682215.1:n.3620C>A
ENST00000682288.1:c.*1985C>A ENSP00000507506.1:n.*1985C>A
ENST00000682442.1:n.3843C>A
ENST00000682528.1:n.3700C>A
ENST00000682673.1:n.3567C>A
ENST00000682805.1:n.3620C>A
ENST00000682965.1:c.3396+979C>A ENSP00000508229.1:n.3396+979C>A
ENST00000683093.1:n.3722C>A
ENST00000683136.1:c.3551C>A ENSP00000507768.1:p.Ser1184Tyr
ENST00000683153.1:n.3779C>A
ENST00000683365.1:n.3725C>A
ENST00000683377.1:n.3623C>A
ENST00000683456.1:c.*691C>A ENSP00000508318.1:n.*691C>A
ENST00000683522.1:n.3623C>A
ENST00000683562.1:c.*1723C>A ENSP00000508265.1:n.*1723C>A
ENST00000683693.1:n.3700C>A
ENST00000683725.1:c.3554C>A ENSP00000507496.1:p.Ser1185Tyr
ENST00000684010.1:n.3618C>A
ENST00000684157.1:n.3623C>A
ENST00000684253.1:n.3526C>A
ENST00000684288.1:c.*1726C>A ENSP00000507143.1:n.*1726C>A
ENST00000684313.1:n.3055C>A
ENST00000684332.1:n.3696C>A
ENST00000684371.1:n.3729C>A
ENST00000684404.1:n.3666C>A
ENST00000684442.1:n.3623C>A
ENST00000684555.1:c.*1766C>A ENSP00000507705.1:n.*1766C>A
ENST00000684571.1:c.3395C>A ENSP00000506935.1:p.Ser1132Tyr
ENST00000684593.1:c.*3259C>A ENSP00000507005.1:n.*3259C>A
ENST00000684711.1:c.*1950C>A ENSP00000506841.1:n.*1950C>A
ENST00000302539.9:c.3557C>A ENSP00000303960.4:p.Ser1186Tyr
ENST00000389817.8:c.3554C>A MANE Select ENSP00000374467.4:p.Ser1185Tyr
ENST00000642271.1:c.3551C>A ENSP00000493749.1:p.Ser1184Tyr
ENST00000642579.1:c.1638C>A
ENST00000642611.1:n.3508C>A
ENST00000642902.1:c.3336C>A
ENST00000643260.1:c.3554C>A ENSP00000494450.1:p.Ser1185Tyr
ENST00000643562.1:c.*1530C>A ENSP00000496124.1:n.*1530C>A
ENST00000643925.1:c.1678C>A
ENST00000644447.1:c.1910C>A ENSP00000496282.1:p.Ser637Tyr
ENST00000644484.1:c.*1809C>A ENSP00000493558.1:n.*1809C>A
ENST00000644675.1:c.*1726C>A ENSP00000494567.1:n.*1726C>A
ENST00000644757.1:c.*1839C>A ENSP00000495085.1:n.*1839C>A
ENST00000644772.1:c.3620C>A ENSP00000494321.1:p.Ser1207Tyr
ENST00000645004.1:n.693C>A
ENST00000645076.1:c.2753C>A
ENST00000645417.1:c.720C>A
ENST00000645744.1:c.*1818C>A ENSP00000494564.1:n.*1818C>A
ENST00000645760.1:c.3829C>A
ENST00000645884.1:c.*691C>A ENSP00000495516.1:n.*691C>A
ENST00000646003.1:c.*1510C>A ENSP00000495259.1:n.*1510C>A
ENST00000646207.1:c.*2021C>A ENSP00000495025.1:n.*2021C>A
ENST00000646276.1:c.*1827C>A ENSP00000496070.1:n.*1827C>A
ENST00000646592.1:c.2860C>A
ENST00000646902.1:c.3551C>A ENSP00000494101.1:p.Ser1184Tyr
ENST00000646993.1:c.*1950C>A ENSP00000493720.1:n.*1950C>A
ENST00000647013.1:c.3560C>A ENSP00000496741.1:n.3560C>A
ENST00000647015.1:c.3305C>A ENSP00000495389.1:p.Ser1102Tyr
ENST00000647086.1:c.*3284C>A ENSP00000493677.1:n.*3284C>A
ENST00000647158.1:c.*1695C>A ENSP00000495744.1:n.*1695C>A
ENST00000302539.8:c.3557C>A ENSP00000303960.4:p.Ser1186Tyr
ENST00000389817.7:c.3554C>A ENSP00000374467.3:p.Ser1185Tyr
ENST00000524561.1:n.686C>A
ENST00000527905.5:c.*430C>A ENSP00000431653.1:n.*430C>A
ENST00000528374.1:c.24C>A
ENST00000531137.1:n.47C>A
NM_000352.4:c.3554C>A NP_000343.2:p.Ser1185Tyr
NM_001287174.1:c.3557C>A NP_001274103.1:p.Ser1186Tyr
XM_011520331.1:c.3554C>A XP_011518633.1:p.Ser1185Tyr
XM_011520332.1:c.3557C>A XP_011518634.1:p.Ser1186Tyr
XM_011520333.1:c.2054C>A XP_011518635.1:p.Ser685Tyr
XR_930890.1:n.3620C>A
XR_930892.1:n.3520C>A
XR_930893.1:n.3517C>A
NM_001351295.1:c.3620C>A NP_001338224.1:p.Ser1207Tyr
NM_001351296.1:c.3554C>A NP_001338225.1:p.Ser1185Tyr
NM_001351297.1:c.3551C>A NP_001338226.1:p.Ser1184Tyr
NR_147094.1:n.3703C>A
XM_017018197.2:c.3623C>A XP_016873686.1:p.Ser1208Tyr
XM_017018199.1:c.3620C>A XP_016873688.1:p.Ser1207Tyr
XM_017018201.2:c.3623C>A XP_016873690.1:p.Ser1208Tyr
XM_017018202.1:c.2120C>A XP_016873691.1:p.Ser707Tyr
XM_017018204.1:c.1511C>A XP_016873693.1:p.Ser504Tyr
XM_024448668.1:c.1922C>A XP_024304436.1:p.Ser641Tyr
XR_001747945.2:n.3695C>A
XR_001747946.2:n.3626C>A
XR_002957189.1:n.3775C>A
NM_000352.6:c.3554C>A MANE Select NP_000343.2:p.Ser1185Tyr
NM_001287174.2:c.3557C>A NP_001274103.1:p.Ser1186Tyr
NM_001351295.2:c.3620C>A NP_001338224.1:p.Ser1207Tyr
NM_001351296.2:c.3554C>A NP_001338225.1:p.Ser1185Tyr
NM_001351297.2:c.3551C>A NP_001338226.1:p.Ser1184Tyr
NR_147094.2:n.3703C>A
NM_001287174.3:c.3557C>A NP_001274103.1:p.Ser1186Tyr