Canonical Allele Identifier: CA2612661254
Gene: ABCC8 HGNC NCBI

Linked Data

gnomAD v4: 11-17404816-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404816C>T , CM000673.2:g.17404816C>T GRCh38
NC_000011.9:g.17426363C>T , CM000673.1:g.17426363C>T GRCh37
NC_000011.8:g.17382939C>T NCBI36
NG_008867.1:g.77087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2969-147G>A
ENST00000529967.6:n.1739-147G>A
ENST00000532220.2:n.1132-147G>A
ENST00000642611.2:n.3469-147G>A
ENST00000645004.2:n.899-147G>A
ENST00000682051.1:n.3416-147G>A
ENST00000682110.1:n.3469-147G>A
ENST00000682140.1:c.3397-147G>A ENSP00000507829.1:n.3397-147G>A
ENST00000682185.1:n.4705-147G>A
ENST00000682204.1:c.*1538-147G>A ENSP00000507094.1:n.*1538-147G>A
ENST00000682215.1:n.3466-147G>A
ENST00000682288.1:c.*1831-147G>A ENSP00000507506.1:n.*1831-147G>A
ENST00000682442.1:n.3689-147G>A
ENST00000682528.1:n.3546-147G>A
ENST00000682673.1:n.3413-147G>A
ENST00000682805.1:n.3466-147G>A
ENST00000682965.1:c.3396+678G>A ENSP00000508229.1:n.3396+678G>A
ENST00000683093.1:n.3568-147G>A
ENST00000683136.1:c.3397-147G>A ENSP00000507768.1:n.3397-147G>A
ENST00000683153.1:n.3625-147G>A
ENST00000683365.1:n.3571-147G>A
ENST00000683377.1:n.3469-147G>A
ENST00000683456.1:c.*537-147G>A ENSP00000508318.1:n.*537-147G>A
ENST00000683522.1:n.3469-147G>A
ENST00000683562.1:c.*1569-147G>A ENSP00000508265.1:n.*1569-147G>A
ENST00000683693.1:n.3546-147G>A
ENST00000683725.1:c.3400-147G>A ENSP00000507496.1:n.3400-147G>A
ENST00000684010.1:n.3464-147G>A
ENST00000684157.1:n.3469-147G>A
ENST00000684253.1:n.3372-147G>A
ENST00000684288.1:c.*1572-147G>A ENSP00000507143.1:n.*1572-147G>A
ENST00000684313.1:n.2901-147G>A
ENST00000684332.1:n.3542-147G>A
ENST00000684371.1:n.3575-147G>A
ENST00000684404.1:n.3512-147G>A
ENST00000684442.1:n.3469-147G>A
ENST00000684555.1:c.*1612-147G>A ENSP00000507705.1:n.*1612-147G>A
ENST00000684571.1:c.3241-147G>A ENSP00000506935.1:n.3241-147G>A
ENST00000684593.1:c.*3105-147G>A ENSP00000507005.1:n.*3105-147G>A
ENST00000684711.1:c.*1796-147G>A ENSP00000506841.1:n.*1796-147G>A
ENST00000302539.9:c.3403-147G>A ENSP00000303960.4:n.3403-147G>A
ENST00000389817.8:c.3400-147G>A MANE Select ENSP00000374467.4:n.3400-147G>A
ENST00000642271.1:c.3397-147G>A ENSP00000493749.1:n.3397-147G>A
ENST00000642579.1:c.1484-147G>A
ENST00000642611.1:n.3354-147G>A
ENST00000642902.1:c.3182-147G>A
ENST00000643260.1:c.3400-147G>A ENSP00000494450.1:n.3400-147G>A
ENST00000643562.1:c.*1376-147G>A ENSP00000496124.1:n.*1376-147G>A
ENST00000643925.1:c.1524-147G>A
ENST00000644447.1:c.1756-147G>A ENSP00000496282.1:n.1756-147G>A
ENST00000644484.1:c.*1655-147G>A ENSP00000493558.1:n.*1655-147G>A
ENST00000644675.1:c.*1572-147G>A ENSP00000494567.1:n.*1572-147G>A
ENST00000644757.1:c.*1685-147G>A ENSP00000495085.1:n.*1685-147G>A
ENST00000644772.1:c.3466-147G>A ENSP00000494321.1:n.3466-147G>A
ENST00000645004.1:n.539-147G>A
ENST00000645076.1:c.2599-147G>A
ENST00000645417.1:c.566-147G>A
ENST00000645744.1:c.*1664-147G>A ENSP00000494564.1:n.*1664-147G>A
ENST00000645760.1:c.3675-147G>A
ENST00000645884.1:c.*537-147G>A ENSP00000495516.1:n.*537-147G>A
ENST00000646003.1:c.*1356-147G>A ENSP00000495259.1:n.*1356-147G>A
ENST00000646207.1:c.*1867-147G>A ENSP00000495025.1:n.*1867-147G>A
ENST00000646276.1:c.*1673-147G>A ENSP00000496070.1:n.*1673-147G>A
ENST00000646592.1:c.2706-147G>A
ENST00000646902.1:c.3397-147G>A ENSP00000494101.1:n.3397-147G>A
ENST00000646993.1:c.*1796-147G>A ENSP00000493720.1:n.*1796-147G>A
ENST00000647013.1:c.3406-147G>A ENSP00000496741.1:n.3406-147G>A
ENST00000647015.1:c.3151-147G>A ENSP00000495389.1:n.3151-147G>A
ENST00000647086.1:c.*3130-147G>A ENSP00000493677.1:n.*3130-147G>A
ENST00000647158.1:c.*1541-147G>A ENSP00000495744.1:n.*1541-147G>A
ENST00000302539.8:c.3403-147G>A ENSP00000303960.4:n.3403-147G>A
ENST00000389817.7:c.3400-147G>A ENSP00000374467.3:n.3400-147G>A
ENST00000524561.1:n.532-147G>A
ENST00000527905.5:c.*276-147G>A ENSP00000431653.1:n.*276-147G>A
NM_000352.4:c.3400-147G>A NP_000343.2:n.3400-147G>A
NM_001287174.1:c.3403-147G>A NP_001274103.1:n.3403-147G>A
XM_011520331.1:c.3400-147G>A XP_011518633.1:n.3400-147G>A
XM_011520332.1:c.3403-147G>A XP_011518634.1:n.3403-147G>A
XM_011520333.1:c.1900-147G>A XP_011518635.1:n.1900-147G>A
XR_930890.1:n.3466-147G>A
XR_930891.1:n.3467-147G>A
XR_930892.1:n.3366-147G>A
XR_930893.1:n.3363-147G>A
NM_001351295.1:c.3466-147G>A NP_001338224.1:n.3466-147G>A
NM_001351296.1:c.3400-147G>A NP_001338225.1:n.3400-147G>A
NM_001351297.1:c.3397-147G>A NP_001338226.1:n.3397-147G>A
NR_147094.1:n.3549-147G>A
XM_017018197.2:c.3469-147G>A XP_016873686.1:n.3469-147G>A
XM_017018199.1:c.3466-147G>A XP_016873688.1:n.3466-147G>A
XM_017018201.2:c.3469-147G>A XP_016873690.1:n.3469-147G>A
XM_017018202.1:c.1966-147G>A XP_016873691.1:n.1966-147G>A
XM_017018204.1:c.1357-147G>A XP_016873693.1:n.1357-147G>A
XM_024448668.1:c.1768-147G>A XP_024304436.1:n.1768-147G>A
XR_001747945.2:n.3541-147G>A
XR_001747946.2:n.3472-147G>A
XR_002957189.1:n.3621-147G>A
NM_000352.6:c.3400-147G>A MANE Select NP_000343.2:n.3400-147G>A
NM_001287174.2:c.3403-147G>A NP_001274103.1:n.3403-147G>A
NM_001351295.2:c.3466-147G>A NP_001338224.1:n.3466-147G>A
NM_001351296.2:c.3400-147G>A NP_001338225.1:n.3400-147G>A
NM_001351297.2:c.3397-147G>A NP_001338226.1:n.3397-147G>A
NR_147094.2:n.3549-147G>A
NM_001287174.3:c.3403-147G>A NP_001274103.1:n.3403-147G>A
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