Canonical Allele Identifier: CA2612662072
Gene: ABCC8 HGNC NCBI

Linked Data

gnomAD v4: 11-17407195-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17407195T>C , CM000673.2:g.17407195T>C GRCh38
NC_000011.9:g.17428742T>C , CM000673.1:g.17428742T>C GRCh37
NC_000011.8:g.17385318T>C NCBI36
NG_008867.1:g.74708A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2490-66A>G
ENST00000529967.6:n.1194A>G
ENST00000532220.2:n.653-66A>G
ENST00000642611.2:n.2990-66A>G
ENST00000645004.2:n.420-66A>G
ENST00000682051.1:n.2937-66A>G
ENST00000682110.1:n.2990-66A>G
ENST00000682140.1:c.2918-66A>G ENSP00000507829.1:n.2918-66A>G
ENST00000682185.1:n.4226-66A>G
ENST00000682204.1:c.*1059-66A>G ENSP00000507094.1:n.*1059-66A>G
ENST00000682215.1:n.2987-66A>G
ENST00000682288.1:c.*1352-66A>G ENSP00000507506.1:n.*1352-66A>G
ENST00000682442.1:n.3111-66A>G
ENST00000682528.1:n.3001A>G
ENST00000682673.1:n.2934-66A>G
ENST00000682805.1:n.2987-66A>G
ENST00000682965.1:c.2918-66A>G ENSP00000508229.1:n.2918-66A>G
ENST00000683093.1:n.3089-66A>G
ENST00000683136.1:c.2918-66A>G ENSP00000507768.1:n.2918-66A>G
ENST00000683153.1:n.3146-66A>G
ENST00000683365.1:n.3092-66A>G
ENST00000683377.1:n.2990-66A>G
ENST00000683456.1:c.2935A>G ENSP00000508318.1:p.Met979Val
ENST00000683522.1:n.2990-66A>G
ENST00000683562.1:c.*1090-66A>G ENSP00000508265.1:n.*1090-66A>G
ENST00000683693.1:n.3001A>G
ENST00000683725.1:c.2921-66A>G ENSP00000507496.1:n.2921-66A>G
ENST00000684010.1:n.2919A>G
ENST00000684157.1:n.2990-66A>G
ENST00000684253.1:n.2893-66A>G
ENST00000684288.1:c.*1093-66A>G ENSP00000507143.1:n.*1093-66A>G
ENST00000684313.1:n.2422-66A>G
ENST00000684332.1:n.3063-66A>G
ENST00000684371.1:n.3096-66A>G
ENST00000684404.1:n.2987-20A>G
ENST00000684442.1:n.2990-66A>G
ENST00000684555.1:c.*1133-66A>G ENSP00000507705.1:n.*1133-66A>G
ENST00000684571.1:c.2762-66A>G ENSP00000506935.1:n.2762-66A>G
ENST00000684593.1:c.*2626-66A>G ENSP00000507005.1:n.*2626-66A>G
ENST00000684711.1:c.*1317-66A>G ENSP00000506841.1:n.*1317-66A>G
ENST00000302539.9:c.2924-66A>G ENSP00000303960.4:n.2924-66A>G
ENST00000389817.8:c.2921-66A>G MANE Select ENSP00000374467.4:n.2921-66A>G
ENST00000642271.1:c.2918-66A>G ENSP00000493749.1:n.2918-66A>G
ENST00000642579.1:c.1005-66A>G
ENST00000642611.1:n.2875-66A>G
ENST00000642902.1:c.2756-119A>G
ENST00000643260.1:c.2921-66A>G ENSP00000494450.1:n.2921-66A>G
ENST00000643562.1:c.*897-66A>G ENSP00000496124.1:n.*897-66A>G
ENST00000643925.1:c.979A>G
ENST00000644447.1:c.1277-66A>G ENSP00000496282.1:n.1277-66A>G
ENST00000644484.1:c.*1130-20A>G ENSP00000493558.1:n.*1130-20A>G
ENST00000644542.1:c.*2626-66A>G ENSP00000495532.1:n.*2626-66A>G
ENST00000644675.1:c.*1093-66A>G ENSP00000494567.1:n.*1093-66A>G
ENST00000644757.1:c.*1140A>G ENSP00000495085.1:n.*1140A>G
ENST00000644772.1:c.2987-66A>G ENSP00000494321.1:n.2987-66A>G
ENST00000645004.1:n.60-66A>G
ENST00000645076.1:c.2173-119A>G
ENST00000645417.1:c.87-66A>G
ENST00000645744.1:c.*1185-66A>G ENSP00000494564.1:n.*1185-66A>G
ENST00000645760.1:c.3196-66A>G
ENST00000645884.1:c.2935A>G ENSP00000495516.1:p.Met979Val
ENST00000646003.1:c.*877-66A>G ENSP00000495259.1:n.*877-66A>G
ENST00000646207.1:c.*1388-66A>G ENSP00000495025.1:n.*1388-66A>G
ENST00000646276.1:c.*1194-66A>G ENSP00000496070.1:n.*1194-66A>G
ENST00000646592.1:c.2161A>G
ENST00000646902.1:c.2918-66A>G ENSP00000494101.1:n.2918-66A>G
ENST00000646993.1:c.*1317-66A>G ENSP00000493720.1:n.*1317-66A>G
ENST00000647013.1:c.2927-66A>G ENSP00000496741.1:n.2927-66A>G
ENST00000647015.1:c.2672-66A>G ENSP00000495389.1:n.2672-66A>G
ENST00000647086.1:c.*2651-66A>G ENSP00000493677.1:n.*2651-66A>G
ENST00000647158.1:c.*1062-66A>G ENSP00000495744.1:n.*1062-66A>G
ENST00000302539.8:c.2924-66A>G ENSP00000303960.4:n.2924-66A>G
ENST00000389817.7:c.2921-66A>G ENSP00000374467.3:n.2921-66A>G
ENST00000526921.5:n.605-66A>G
ENST00000527905.5:c.2791-66A>G ENSP00000431653.1:n.2791-66A>G
ENST00000529967.5:n.590-66A>G
NM_000352.4:c.2921-66A>G NP_000343.2:n.2921-66A>G
NM_001287174.1:c.2924-66A>G NP_001274103.1:n.2924-66A>G
XM_011520331.1:c.2921-66A>G XP_011518633.1:n.2921-66A>G
XM_011520332.1:c.2924-66A>G XP_011518634.1:n.2924-66A>G
XM_011520333.1:c.1421-66A>G XP_011518635.1:n.1421-66A>G
XM_011520334.1:c.2938A>G XP_011518636.1:p.Met980Val
XR_930890.1:n.2987-66A>G
XR_930891.1:n.2987-66A>G
XR_930892.1:n.2887-66A>G
XR_930893.1:n.2884-66A>G
NM_001351295.1:c.2987-66A>G NP_001338224.1:n.2987-66A>G
NM_001351296.1:c.2921-66A>G NP_001338225.1:n.2921-66A>G
NM_001351297.1:c.2918-66A>G NP_001338226.1:n.2918-66A>G
NR_147094.1:n.3004A>G
XM_017018197.2:c.2990-66A>G XP_016873686.1:n.2990-66A>G
XM_017018199.1:c.2987-66A>G XP_016873688.1:n.2987-66A>G
XM_017018201.2:c.2990-66A>G XP_016873690.1:n.2990-66A>G
XM_017018202.1:c.1487-66A>G XP_016873691.1:n.1487-66A>G
XM_017018204.1:c.878-66A>G XP_016873693.1:n.878-66A>G
XM_024448668.1:c.1289-66A>G XP_024304436.1:n.1289-66A>G
XR_001747945.2:n.3062-66A>G
XR_001747946.2:n.2993-66A>G
XR_002957189.1:n.3076A>G
NM_000352.6:c.2921-66A>G MANE Select NP_000343.2:n.2921-66A>G
NM_001287174.2:c.2924-66A>G NP_001274103.1:n.2924-66A>G
NM_001351295.2:c.2987-66A>G NP_001338224.1:n.2987-66A>G
NM_001351296.2:c.2921-66A>G NP_001338225.1:n.2921-66A>G
NM_001351297.2:c.2918-66A>G NP_001338226.1:n.2918-66A>G
NR_147094.2:n.3004A>G
NM_001287174.3:c.2924-66A>G NP_001274103.1:n.2924-66A>G
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