Canonical Allele Identifier: CA218415447
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs990566119
gnomAD v4: 11-17402601-C-T
MyVariant Identifiers: chr11:g.17424148C>T (hg19) chr11:g.17402601C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17402601C>T , CM000673.2:g.17402601C>T GRCh38
NC_000011.9:g.17424148C>T , CM000673.1:g.17424148C>T GRCh37
NC_000011.8:g.17380724C>T NCBI36
NG_008867.1:g.79302G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3219+60G>A
ENST00000528374.2:c.229+60G>A
ENST00000529967.6:n.1989+60G>A
ENST00000532220.2:n.1382+60G>A
ENST00000642611.2:n.3719+60G>A
ENST00000644057.2:n.93+60G>A
ENST00000645004.2:n.1149+60G>A
ENST00000682051.1:n.3666+60G>A
ENST00000682110.1:n.3719+60G>A
ENST00000682140.1:c.3647+60G>A ENSP00000507829.1:n.3647+60G>A
ENST00000682185.1:n.4955+60G>A
ENST00000682204.1:c.*1788+60G>A ENSP00000507094.1:n.*1788+60G>A
ENST00000682215.1:n.3716+60G>A
ENST00000682288.1:c.*2081+60G>A ENSP00000507506.1:n.*2081+60G>A
ENST00000682442.1:n.3939+60G>A
ENST00000682528.1:n.3796+60G>A
ENST00000682673.1:n.3663+60G>A
ENST00000682805.1:n.3716+60G>A
ENST00000682965.1:c.*72+60G>A ENSP00000508229.1:n.*72+60G>A
ENST00000683093.1:n.3818+60G>A
ENST00000683136.1:c.3647+60G>A ENSP00000507768.1:n.3647+60G>A
ENST00000683153.1:n.3875+60G>A
ENST00000683365.1:n.3821+60G>A
ENST00000683377.1:n.3719+60G>A
ENST00000683456.1:c.*787+60G>A ENSP00000508318.1:n.*787+60G>A
ENST00000683522.1:n.3719+60G>A
ENST00000683562.1:c.*1819+60G>A ENSP00000508265.1:n.*1819+60G>A
ENST00000683693.1:n.3796+60G>A
ENST00000683725.1:c.3650+60G>A ENSP00000507496.1:n.3650+60G>A
ENST00000684010.1:n.3714+60G>A
ENST00000684157.1:n.3719+60G>A
ENST00000684253.1:n.3622+60G>A
ENST00000684288.1:c.*1822+60G>A ENSP00000507143.1:n.*1822+60G>A
ENST00000684313.1:n.3151+60G>A
ENST00000684332.1:n.3792+60G>A
ENST00000684371.1:n.3825+60G>A
ENST00000684404.1:n.3762+60G>A
ENST00000684442.1:n.3719+60G>A
ENST00000684555.1:c.*1862+60G>A ENSP00000507705.1:n.*1862+60G>A
ENST00000684571.1:c.3491+60G>A ENSP00000506935.1:n.3491+60G>A
ENST00000684593.1:c.*3355+60G>A ENSP00000507005.1:n.*3355+60G>A
ENST00000684711.1:c.*2046+60G>A ENSP00000506841.1:n.*2046+60G>A
ENST00000302539.9:c.3653+60G>A ENSP00000303960.4:n.3653+60G>A
ENST00000389817.8:c.3650+60G>A MANE Select ENSP00000374467.4:n.3650+60G>A
ENST00000642271.1:c.3647+60G>A ENSP00000493749.1:n.3647+60G>A
ENST00000642579.1:c.1734+60G>A
ENST00000642611.1:n.3604+60G>A
ENST00000642902.1:c.3432+60G>A
ENST00000643260.1:c.3650+60G>A ENSP00000494450.1:n.3650+60G>A
ENST00000643562.1:c.*1626+60G>A ENSP00000496124.1:n.*1626+60G>A
ENST00000643925.1:c.1774+60G>A
ENST00000644447.1:c.2006+60G>A ENSP00000496282.1:n.2006+60G>A
ENST00000644484.1:c.*1905+60G>A ENSP00000493558.1:n.*1905+60G>A
ENST00000644675.1:c.*1822+60G>A ENSP00000494567.1:n.*1822+60G>A
ENST00000644757.1:c.*1935+60G>A ENSP00000495085.1:n.*1935+60G>A
ENST00000644772.1:c.3716+60G>A ENSP00000494321.1:n.3716+60G>A
ENST00000645004.1:n.789+60G>A
ENST00000645076.1:c.2849+60G>A
ENST00000645417.1:c.816+60G>A
ENST00000645744.1:c.*1914+60G>A ENSP00000494564.1:n.*1914+60G>A
ENST00000645760.1:c.3925+60G>A
ENST00000645884.1:c.*787+60G>A ENSP00000495516.1:n.*787+60G>A
ENST00000646003.1:c.*1606+60G>A ENSP00000495259.1:n.*1606+60G>A
ENST00000646207.1:c.*2117+60G>A ENSP00000495025.1:n.*2117+60G>A
ENST00000646276.1:c.*1923+60G>A ENSP00000496070.1:n.*1923+60G>A
ENST00000646592.1:c.2956+60G>A
ENST00000646902.1:c.3647+60G>A ENSP00000494101.1:n.3647+60G>A
ENST00000646993.1:c.*2046+60G>A ENSP00000493720.1:n.*2046+60G>A
ENST00000647013.1:c.3656+60G>A ENSP00000496741.1:n.3656+60G>A
ENST00000647015.1:c.3401+60G>A ENSP00000495389.1:n.3401+60G>A
ENST00000647086.1:c.*3380+60G>A ENSP00000493677.1:n.*3380+60G>A
ENST00000647158.1:c.*1791+60G>A ENSP00000495744.1:n.*1791+60G>A
ENST00000302539.8:c.3653+60G>A ENSP00000303960.4:n.3653+60G>A
ENST00000389817.7:c.3650+60G>A ENSP00000374467.3:n.3650+60G>A
ENST00000527905.5:c.*526+60G>A ENSP00000431653.1:n.*526+60G>A
ENST00000528374.1:c.120+60G>A
ENST00000531137.1:n.143+60G>A
ENST00000531891.1:c.18+60G>A
NM_000352.4:c.3650+60G>A NP_000343.2:n.3650+60G>A
NM_001287174.1:c.3653+60G>A NP_001274103.1:n.3653+60G>A
XM_011520331.1:c.3650+60G>A XP_011518633.1:n.3650+60G>A
XM_011520332.1:c.3653+60G>A XP_011518634.1:n.3653+60G>A
XM_011520333.1:c.2150+60G>A XP_011518635.1:n.2150+60G>A
XR_930890.1:n.3716+60G>A
XR_930892.1:n.3616+60G>A
XR_930893.1:n.3613+60G>A
NM_001351295.1:c.3716+60G>A NP_001338224.1:n.3716+60G>A
NM_001351296.1:c.3650+60G>A NP_001338225.1:n.3650+60G>A
NM_001351297.1:c.3647+60G>A NP_001338226.1:n.3647+60G>A
NR_147094.1:n.3799+60G>A
XM_017018197.2:c.3719+60G>A XP_016873686.1:n.3719+60G>A
XM_017018199.1:c.3716+60G>A XP_016873688.1:n.3716+60G>A
XM_017018201.2:c.3719+60G>A XP_016873690.1:n.3719+60G>A
XM_017018202.1:c.2216+60G>A XP_016873691.1:n.2216+60G>A
XM_017018204.1:c.1607+60G>A XP_016873693.1:n.1607+60G>A
XM_024448668.1:c.2018+60G>A XP_024304436.1:n.2018+60G>A
XR_001747945.2:n.3791+60G>A
XR_001747946.2:n.3722+60G>A
XR_002957189.1:n.3871+60G>A
NM_000352.6:c.3650+60G>A MANE Select NP_000343.2:n.3650+60G>A
NM_001287174.2:c.3653+60G>A NP_001274103.1:n.3653+60G>A
NM_001351295.2:c.3716+60G>A NP_001338224.1:n.3716+60G>A
NM_001351296.2:c.3650+60G>A NP_001338225.1:n.3650+60G>A
NM_001351297.2:c.3647+60G>A NP_001338226.1:n.3647+60G>A
NR_147094.2:n.3799+60G>A
NM_001287174.3:c.3653+60G>A NP_001274103.1:n.3653+60G>A
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