Canonical Allele Identifier: CA379807340
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412670A>C , CM000673.2:g.17412670A>C GRCh38
NC_000011.9:g.17434217A>C , CM000673.1:g.17434217A>C GRCh37
NC_000011.8:g.17390793A>C NCBI36
NG_008867.1:g.69233T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2221T>G
ENST00000529967.6:n.811T>G
ENST00000642611.2:n.2621T>G
ENST00000682051.1:n.2568T>G
ENST00000682110.1:n.2621T>G
ENST00000682140.1:c.2549T>G ENSP00000507829.1:p.Phe850Cys
ENST00000682185.1:n.3857T>G
ENST00000682204.1:c.*690T>G ENSP00000507094.1:n.*690T>G
ENST00000682215.1:n.2618T>G
ENST00000682288.1:c.*983T>G ENSP00000507506.1:n.*983T>G
ENST00000682442.1:n.2742T>G
ENST00000682528.1:n.2618T>G
ENST00000682673.1:n.2565T>G
ENST00000682805.1:n.2618T>G
ENST00000682965.1:c.2549T>G ENSP00000508229.1:p.Phe850Cys
ENST00000683093.1:n.2720T>G
ENST00000683136.1:c.2549T>G ENSP00000507768.1:p.Phe850Cys
ENST00000683153.1:n.2777T>G
ENST00000683365.1:n.2723T>G
ENST00000683377.1:n.2621T>G
ENST00000683456.1:c.2552T>G ENSP00000508318.1:p.Phe851Cys
ENST00000683522.1:n.2621T>G
ENST00000683562.1:c.*721T>G ENSP00000508265.1:n.*721T>G
ENST00000683693.1:n.2618T>G
ENST00000683725.1:c.2552T>G ENSP00000507496.1:p.Phe851Cys
ENST00000684010.1:n.2536T>G
ENST00000684157.1:n.2621T>G
ENST00000684253.1:n.2524T>G
ENST00000684288.1:c.*724T>G ENSP00000507143.1:n.*724T>G
ENST00000684313.1:n.2053T>G
ENST00000684332.1:n.2694T>G
ENST00000684371.1:n.2727T>G
ENST00000684404.1:n.2618T>G
ENST00000684442.1:n.2621T>G
ENST00000684555.1:c.*764T>G ENSP00000507705.1:n.*764T>G
ENST00000684571.1:c.2393T>G ENSP00000506935.1:p.Phe798Cys
ENST00000684593.1:c.*2257T>G ENSP00000507005.1:n.*2257T>G
ENST00000684711.1:c.*948T>G ENSP00000506841.1:n.*948T>G
ENST00000302539.9:c.2555T>G ENSP00000303960.4:p.Phe852Cys
ENST00000389817.8:c.2552T>G MANE Select ENSP00000374467.4:p.Phe851Cys
ENST00000642271.1:c.2549T>G ENSP00000493749.1:p.Phe850Cys
ENST00000642579.1:c.636T>G
ENST00000642611.1:n.2506T>G
ENST00000642902.1:c.2387T>G
ENST00000643260.1:c.2552T>G ENSP00000494450.1:p.Phe851Cys
ENST00000643562.1:c.*528T>G ENSP00000496124.1:n.*528T>G
ENST00000643925.1:c.596T>G
ENST00000644447.1:c.908T>G ENSP00000496282.1:p.Phe303Cys
ENST00000644472.1:c.*913T>G ENSP00000495378.1:n.*913T>G
ENST00000644484.1:c.*761T>G ENSP00000493558.1:n.*761T>G
ENST00000644542.1:c.*2257T>G ENSP00000495532.1:n.*2257T>G
ENST00000644675.1:c.*724T>G ENSP00000494567.1:n.*724T>G
ENST00000644757.1:c.*857T>G ENSP00000495085.1:n.*857T>G
ENST00000644772.1:c.2618T>G ENSP00000494321.1:p.Phe873Cys
ENST00000645076.1:c.1804T>G
ENST00000645744.1:c.*916T>G ENSP00000494564.1:n.*916T>G
ENST00000645760.1:c.2827T>G
ENST00000645884.1:c.2552T>G ENSP00000495516.1:p.Phe851Cys
ENST00000646003.1:c.*608T>G ENSP00000495259.1:n.*608T>G
ENST00000646207.1:c.*916T>G ENSP00000495025.1:n.*916T>G
ENST00000646276.1:c.*825T>G ENSP00000496070.1:n.*825T>G
ENST00000646592.1:c.1778T>G
ENST00000646902.1:c.2549T>G ENSP00000494101.1:p.Phe850Cys
ENST00000646993.1:c.*948T>G ENSP00000493720.1:n.*948T>G
ENST00000647013.1:c.2558T>G ENSP00000496741.1:n.2558T>G
ENST00000647015.1:c.2303T>G ENSP00000495389.1:p.Phe768Cys
ENST00000647086.1:c.*2282T>G ENSP00000493677.1:n.*2282T>G
ENST00000647158.1:c.*693T>G ENSP00000495744.1:n.*693T>G
ENST00000302539.8:c.2555T>G ENSP00000303960.4:p.Phe852Cys
ENST00000389817.7:c.2552T>G ENSP00000374467.3:p.Phe851Cys
ENST00000526921.5:n.236T>G
ENST00000527905.5:c.2522T>G ENSP00000431653.1:p.Phe841Cys
ENST00000529967.5:n.221T>G
ENST00000530147.5:n.135T>G
ENST00000531911.1:n.666T>G
NM_000352.4:c.2552T>G NP_000343.2:p.Phe851Cys
NM_001287174.1:c.2555T>G NP_001274103.1:p.Phe852Cys
XM_011520331.1:c.2552T>G XP_011518633.1:p.Phe851Cys
XM_011520332.1:c.2555T>G XP_011518634.1:p.Phe852Cys
XM_011520333.1:c.1052T>G XP_011518635.1:p.Phe351Cys
XM_011520334.1:c.2555T>G XP_011518636.1:p.Phe852Cys
XR_930890.1:n.2618T>G
XR_930891.1:n.2618T>G
XR_930892.1:n.2618T>G
XR_930893.1:n.2615T>G
NM_001351295.1:c.2618T>G NP_001338224.1:p.Phe873Cys
NM_001351296.1:c.2552T>G NP_001338225.1:p.Phe851Cys
NM_001351297.1:c.2549T>G NP_001338226.1:p.Phe850Cys
NR_147094.1:n.2621T>G
XM_017018197.2:c.2621T>G XP_016873686.1:p.Phe874Cys
XM_017018199.1:c.2618T>G XP_016873688.1:p.Phe873Cys
XM_017018201.2:c.2621T>G XP_016873690.1:p.Phe874Cys
XM_017018202.1:c.1118T>G XP_016873691.1:p.Phe373Cys
XM_017018204.1:c.509T>G XP_016873693.1:p.Phe170Cys
XM_024448668.1:c.920T>G XP_024304436.1:p.Phe307Cys
XR_001747945.2:n.2693T>G
XR_001747946.2:n.2624T>G
XR_002957189.1:n.2693T>G
NM_000352.6:c.2552T>G MANE Select NP_000343.2:p.Phe851Cys
NM_001287174.2:c.2555T>G NP_001274103.1:p.Phe852Cys
NM_001351295.2:c.2618T>G NP_001338224.1:p.Phe873Cys
NM_001351296.2:c.2552T>G NP_001338225.1:p.Phe851Cys
NM_001351297.2:c.2549T>G NP_001338226.1:p.Phe850Cys
NR_147094.2:n.2621T>G
NM_001287174.3:c.2555T>G NP_001274103.1:p.Phe852Cys