Canonical Allele Identifier: CA379781910
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393711C>T , CM000673.2:g.17393711C>T GRCh38
NC_000011.9:g.17415258C>T , CM000673.1:g.17415258C>T GRCh37
NC_000011.8:g.17371834C>T NCBI36
NG_008867.1:g.88192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4195G>A
ENST00000526037.6:n.529G>A
ENST00000528374.2:c.1185G>A
ENST00000529967.6:n.2933G>A
ENST00000532220.2:n.3827G>A
ENST00000642611.2:n.5927G>A
ENST00000644057.2:n.1170G>A
ENST00000645004.2:n.2093G>A
ENST00000682051.1:n.4756G>A
ENST00000682110.1:n.4809G>A
ENST00000682140.1:c.*380G>A ENSP00000507829.1:n.*380G>A
ENST00000682185.1:n.5899G>A
ENST00000682204.1:c.*2732G>A ENSP00000507094.1:n.*2732G>A
ENST00000682215.1:n.5176G>A
ENST00000682288.1:c.*3025G>A ENSP00000507506.1:n.*3025G>A
ENST00000682442.1:n.5029G>A
ENST00000682528.1:n.4886G>A
ENST00000682673.1:n.4753G>A
ENST00000682805.1:n.5214G>A
ENST00000682965.1:c.*1016G>A ENSP00000508229.1:n.*1016G>A
ENST00000683093.1:n.5789G>A
ENST00000683136.1:c.4477G>A ENSP00000507768.1:p.Val1493Met
ENST00000683153.1:n.4851G>A
ENST00000683365.1:n.4911G>A
ENST00000683377.1:n.4705G>A
ENST00000683456.1:c.*1731G>A ENSP00000508318.1:n.*1731G>A
ENST00000683522.1:n.4891G>A
ENST00000683562.1:c.*2659G>A ENSP00000508265.1:n.*2659G>A
ENST00000683693.1:n.6270G>A
ENST00000683725.1:c.*59G>A ENSP00000507496.1:n.*59G>A
ENST00000684010.1:n.4804G>A
ENST00000684014.1:n.781G>A
ENST00000684157.1:n.5794G>A
ENST00000684253.1:n.4712G>A
ENST00000684288.1:c.*2766G>A ENSP00000507143.1:n.*2766G>A
ENST00000684313.1:n.4241G>A
ENST00000684332.1:n.4882G>A
ENST00000684371.1:n.4915G>A
ENST00000684404.1:n.5837G>A
ENST00000684442.1:n.5033G>A
ENST00000684555.1:c.*2806G>A ENSP00000507705.1:n.*2806G>A
ENST00000684571.1:c.4435G>A ENSP00000506935.1:p.Val1479Met
ENST00000684593.1:c.*4299G>A ENSP00000507005.1:n.*4299G>A
ENST00000684711.1:c.*2990G>A ENSP00000506841.1:n.*2990G>A
ENST00000302539.9:c.4597G>A ENSP00000303960.4:p.Val1533Met
ENST00000389817.8:c.4594G>A MANE Select ENSP00000374467.4:p.Val1532Met
ENST00000642271.1:c.4591G>A ENSP00000493749.1:p.Val1531Met
ENST00000642579.1:c.2648G>A
ENST00000642611.1:n.5812G>A
ENST00000642902.1:c.4376G>A
ENST00000643260.1:c.4594G>A ENSP00000494450.1:p.Val1532Met
ENST00000643562.1:c.*2716G>A ENSP00000496124.1:n.*2716G>A
ENST00000643925.1:c.3185+555G>A
ENST00000644057.1:n.753G>A
ENST00000644484.1:c.*3980G>A ENSP00000493558.1:n.*3980G>A
ENST00000644675.1:c.*2766G>A ENSP00000494567.1:n.*2766G>A
ENST00000644757.1:c.*3203-731G>A ENSP00000495085.1:n.*3203-731G>A
ENST00000644772.1:c.4660G>A ENSP00000494321.1:p.Val1554Met
ENST00000645004.1:n.2287G>A
ENST00000645076.1:c.3689G>A
ENST00000645417.1:c.1782G>A
ENST00000645744.1:c.*4279G>A ENSP00000494564.1:n.*4279G>A
ENST00000645760.1:c.5015G>A
ENST00000645884.1:c.*1877G>A ENSP00000495516.1:n.*1877G>A
ENST00000646003.1:c.*2616G>A ENSP00000495259.1:n.*2616G>A
ENST00000646207.1:c.*3431G>A ENSP00000495025.1:n.*3431G>A
ENST00000646276.1:c.*3998G>A ENSP00000496070.1:n.*3998G>A
ENST00000646592.1:c.3900G>A
ENST00000646902.1:c.4561G>A ENSP00000494101.1:p.Val1521Met
ENST00000646993.1:c.*3032G>A ENSP00000493720.1:n.*3032G>A
ENST00000647015.1:c.4345G>A ENSP00000495389.1:p.Val1449Met
ENST00000647086.1:c.*4180G>A ENSP00000493677.1:n.*4180G>A
ENST00000647158.1:c.*2881G>A ENSP00000495744.1:n.*2881G>A
ENST00000302539.8:c.4597G>A ENSP00000303960.4:p.Val1533Met
ENST00000389817.7:c.4594G>A ENSP00000374467.3:p.Val1532Met
ENST00000525022.1:n.489G>A
ENST00000526037.5:n.354G>A
ENST00000526168.5:c.382G>A
ENST00000531642.5:c.625G>A
NM_000352.4:c.4594G>A NP_000343.2:p.Val1532Met
NM_001287174.1:c.4597G>A NP_001274103.1:p.Val1533Met
XM_011520331.1:c.4594G>A XP_011518633.1:p.Val1532Met
XM_011520333.1:c.3094G>A XP_011518635.1:p.Val1032Met
XR_930890.1:n.4556G>A
NM_001351295.1:c.4660G>A NP_001338224.1:p.Val1554Met
NM_001351296.1:c.4594G>A NP_001338225.1:p.Val1532Met
NM_001351297.1:c.4591G>A NP_001338226.1:p.Val1531Met
NR_147094.1:n.4889G>A
XM_017018197.2:c.4663G>A XP_016873686.1:p.Val1555Met
XM_017018199.1:c.4660G>A XP_016873688.1:p.Val1554Met
XM_017018202.1:c.3160G>A XP_016873691.1:p.Val1054Met
XM_017018204.1:c.2551G>A XP_016873693.1:p.Val851Met
XM_024448668.1:c.2962G>A XP_024304436.1:p.Val988Met
XR_001747945.2:n.4631G>A
XR_001747946.2:n.4562G>A
XR_002957189.1:n.6345G>A
NM_000352.6:c.4594G>A MANE Select NP_000343.2:p.Val1532Met
NM_001287174.2:c.4597G>A NP_001274103.1:p.Val1533Met
NM_001351295.2:c.4660G>A NP_001338224.1:p.Val1554Met
NM_001351296.2:c.4594G>A NP_001338225.1:p.Val1532Met
NM_001351297.2:c.4591G>A NP_001338226.1:p.Val1531Met
NR_147094.2:n.4889G>A
NM_001287174.3:c.4597G>A NP_001274103.1:p.Val1533Met