Canonical Allele Identifier: CA2592398786
Gene: ABCC8 HGNC NCBI

Linked Data

gnomAD v3: 11-17404780-T-G
gnomAD v4: 11-17404780-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404780T>G , CM000673.2:g.17404780T>G GRCh38
NC_000011.9:g.17426327T>G , CM000673.1:g.17426327T>G GRCh37
NC_000011.8:g.17382903T>G NCBI36
NG_008867.1:g.77123A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2969-111A>C
ENST00000529967.6:n.1739-111A>C
ENST00000532220.2:n.1132-111A>C
ENST00000642611.2:n.3469-111A>C
ENST00000645004.2:n.899-111A>C
ENST00000682051.1:n.3416-111A>C
ENST00000682110.1:n.3469-111A>C
ENST00000682140.1:c.3397-111A>C ENSP00000507829.1:n.3397-111A>C
ENST00000682185.1:n.4705-111A>C
ENST00000682204.1:c.*1538-111A>C ENSP00000507094.1:n.*1538-111A>C
ENST00000682215.1:n.3466-111A>C
ENST00000682288.1:c.*1831-111A>C ENSP00000507506.1:n.*1831-111A>C
ENST00000682442.1:n.3689-111A>C
ENST00000682528.1:n.3546-111A>C
ENST00000682673.1:n.3413-111A>C
ENST00000682805.1:n.3466-111A>C
ENST00000682965.1:c.3396+714A>C ENSP00000508229.1:n.3396+714A>C
ENST00000683093.1:n.3568-111A>C
ENST00000683136.1:c.3397-111A>C ENSP00000507768.1:n.3397-111A>C
ENST00000683153.1:n.3625-111A>C
ENST00000683365.1:n.3571-111A>C
ENST00000683377.1:n.3469-111A>C
ENST00000683456.1:c.*537-111A>C ENSP00000508318.1:n.*537-111A>C
ENST00000683522.1:n.3469-111A>C
ENST00000683562.1:c.*1569-111A>C ENSP00000508265.1:n.*1569-111A>C
ENST00000683693.1:n.3546-111A>C
ENST00000683725.1:c.3400-111A>C ENSP00000507496.1:n.3400-111A>C
ENST00000684010.1:n.3464-111A>C
ENST00000684157.1:n.3469-111A>C
ENST00000684253.1:n.3372-111A>C
ENST00000684288.1:c.*1572-111A>C ENSP00000507143.1:n.*1572-111A>C
ENST00000684313.1:n.2901-111A>C
ENST00000684332.1:n.3542-111A>C
ENST00000684371.1:n.3575-111A>C
ENST00000684404.1:n.3512-111A>C
ENST00000684442.1:n.3469-111A>C
ENST00000684555.1:c.*1612-111A>C ENSP00000507705.1:n.*1612-111A>C
ENST00000684571.1:c.3241-111A>C ENSP00000506935.1:n.3241-111A>C
ENST00000684593.1:c.*3105-111A>C ENSP00000507005.1:n.*3105-111A>C
ENST00000684711.1:c.*1796-111A>C ENSP00000506841.1:n.*1796-111A>C
ENST00000302539.9:c.3403-111A>C ENSP00000303960.4:n.3403-111A>C
ENST00000389817.8:c.3400-111A>C MANE Select ENSP00000374467.4:n.3400-111A>C
ENST00000642271.1:c.3397-111A>C ENSP00000493749.1:n.3397-111A>C
ENST00000642579.1:c.1484-111A>C
ENST00000642611.1:n.3354-111A>C
ENST00000642902.1:c.3182-111A>C
ENST00000643260.1:c.3400-111A>C ENSP00000494450.1:n.3400-111A>C
ENST00000643562.1:c.*1376-111A>C ENSP00000496124.1:n.*1376-111A>C
ENST00000643925.1:c.1524-111A>C
ENST00000644447.1:c.1756-111A>C ENSP00000496282.1:n.1756-111A>C
ENST00000644484.1:c.*1655-111A>C ENSP00000493558.1:n.*1655-111A>C
ENST00000644675.1:c.*1572-111A>C ENSP00000494567.1:n.*1572-111A>C
ENST00000644757.1:c.*1685-111A>C ENSP00000495085.1:n.*1685-111A>C
ENST00000644772.1:c.3466-111A>C ENSP00000494321.1:n.3466-111A>C
ENST00000645004.1:n.539-111A>C
ENST00000645076.1:c.2599-111A>C
ENST00000645417.1:c.566-111A>C
ENST00000645744.1:c.*1664-111A>C ENSP00000494564.1:n.*1664-111A>C
ENST00000645760.1:c.3675-111A>C
ENST00000645884.1:c.*537-111A>C ENSP00000495516.1:n.*537-111A>C
ENST00000646003.1:c.*1356-111A>C ENSP00000495259.1:n.*1356-111A>C
ENST00000646207.1:c.*1867-111A>C ENSP00000495025.1:n.*1867-111A>C
ENST00000646276.1:c.*1673-111A>C ENSP00000496070.1:n.*1673-111A>C
ENST00000646592.1:c.2706-111A>C
ENST00000646902.1:c.3397-111A>C ENSP00000494101.1:n.3397-111A>C
ENST00000646993.1:c.*1796-111A>C ENSP00000493720.1:n.*1796-111A>C
ENST00000647013.1:c.3406-111A>C ENSP00000496741.1:n.3406-111A>C
ENST00000647015.1:c.3151-111A>C ENSP00000495389.1:n.3151-111A>C
ENST00000647086.1:c.*3130-111A>C ENSP00000493677.1:n.*3130-111A>C
ENST00000647158.1:c.*1541-111A>C ENSP00000495744.1:n.*1541-111A>C
ENST00000302539.8:c.3403-111A>C ENSP00000303960.4:n.3403-111A>C
ENST00000389817.7:c.3400-111A>C ENSP00000374467.3:n.3400-111A>C
ENST00000524561.1:n.532-111A>C
ENST00000527905.5:c.*276-111A>C ENSP00000431653.1:n.*276-111A>C
NM_000352.4:c.3400-111A>C NP_000343.2:n.3400-111A>C
NM_001287174.1:c.3403-111A>C NP_001274103.1:n.3403-111A>C
XM_011520331.1:c.3400-111A>C XP_011518633.1:n.3400-111A>C
XM_011520332.1:c.3403-111A>C XP_011518634.1:n.3403-111A>C
XM_011520333.1:c.1900-111A>C XP_011518635.1:n.1900-111A>C
XR_930890.1:n.3466-111A>C
XR_930891.1:n.3467-111A>C
XR_930892.1:n.3366-111A>C
XR_930893.1:n.3363-111A>C
NM_001351295.1:c.3466-111A>C NP_001338224.1:n.3466-111A>C
NM_001351296.1:c.3400-111A>C NP_001338225.1:n.3400-111A>C
NM_001351297.1:c.3397-111A>C NP_001338226.1:n.3397-111A>C
NR_147094.1:n.3549-111A>C
XM_017018197.2:c.3469-111A>C XP_016873686.1:n.3469-111A>C
XM_017018199.1:c.3466-111A>C XP_016873688.1:n.3466-111A>C
XM_017018201.2:c.3469-111A>C XP_016873690.1:n.3469-111A>C
XM_017018202.1:c.1966-111A>C XP_016873691.1:n.1966-111A>C
XM_017018204.1:c.1357-111A>C XP_016873693.1:n.1357-111A>C
XM_024448668.1:c.1768-111A>C XP_024304436.1:n.1768-111A>C
XR_001747945.2:n.3541-111A>C
XR_001747946.2:n.3472-111A>C
XR_002957189.1:n.3621-111A>C
NM_000352.6:c.3400-111A>C MANE Select NP_000343.2:n.3400-111A>C
NM_001287174.2:c.3403-111A>C NP_001274103.1:n.3403-111A>C
NM_001351295.2:c.3466-111A>C NP_001338224.1:n.3466-111A>C
NM_001351296.2:c.3400-111A>C NP_001338225.1:n.3400-111A>C
NM_001351297.2:c.3397-111A>C NP_001338226.1:n.3397-111A>C
NR_147094.2:n.3549-111A>C
NM_001287174.3:c.3403-111A>C NP_001274103.1:n.3403-111A>C
Search 100 bp 5'
Search 100 bp 3'