Canonical Allele Identifier: CA213467
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 35622
ClinVar RCV Id: RCV000029269
dbSNP Id: rs193922407

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393741C>T , CM000673.2:g.17393741C>T GRCh38
NC_000011.9:g.17415288C>T , CM000673.1:g.17415288C>T GRCh37
NC_000011.8:g.17371864C>T NCBI36
NG_008867.1:g.88162G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4165G>A
ENST00000526037.6:n.499G>A
ENST00000528374.2:c.1155G>A
ENST00000529967.6:n.2903G>A
ENST00000532220.2:n.3797G>A
ENST00000642611.2:n.5897G>A
ENST00000644057.2:n.1140G>A
ENST00000645004.2:n.2063G>A
ENST00000682051.1:n.4726G>A
ENST00000682110.1:n.4779G>A
ENST00000682140.1:c.*350G>A ENSP00000507829.1:n.*350G>A
ENST00000682185.1:n.5869G>A
ENST00000682204.1:c.*2702G>A ENSP00000507094.1:n.*2702G>A
ENST00000682215.1:n.5146G>A
ENST00000682288.1:c.*2995G>A ENSP00000507506.1:n.*2995G>A
ENST00000682442.1:n.4999G>A
ENST00000682528.1:n.4856G>A
ENST00000682673.1:n.4723G>A
ENST00000682805.1:n.5184G>A
ENST00000682965.1:c.*986G>A ENSP00000508229.1:n.*986G>A
ENST00000683093.1:n.5759G>A
ENST00000683136.1:c.4447G>A ENSP00000507768.1:p.Val1483Met
ENST00000683153.1:n.4821G>A
ENST00000683365.1:n.4881G>A
ENST00000683377.1:n.4675G>A
ENST00000683456.1:c.*1701G>A ENSP00000508318.1:n.*1701G>A
ENST00000683522.1:n.4861G>A
ENST00000683562.1:c.*2629G>A ENSP00000508265.1:n.*2629G>A
ENST00000683693.1:n.6240G>A
ENST00000683725.1:c.*29G>A ENSP00000507496.1:n.*29G>A
ENST00000684010.1:n.4774G>A
ENST00000684014.1:n.751G>A
ENST00000684157.1:n.5764G>A
ENST00000684253.1:n.4682G>A
ENST00000684288.1:c.*2736G>A ENSP00000507143.1:n.*2736G>A
ENST00000684313.1:n.4211G>A
ENST00000684332.1:n.4852G>A
ENST00000684371.1:n.4885G>A
ENST00000684404.1:n.5807G>A
ENST00000684442.1:n.5003G>A
ENST00000684555.1:c.*2776G>A ENSP00000507705.1:n.*2776G>A
ENST00000684571.1:c.4405G>A ENSP00000506935.1:p.Val1469Met
ENST00000684593.1:c.*4269G>A ENSP00000507005.1:n.*4269G>A
ENST00000684711.1:c.*2960G>A ENSP00000506841.1:n.*2960G>A
ENST00000302539.9:c.4567G>A ENSP00000303960.4:p.Val1523Met
ENST00000389817.8:c.4564G>A MANE Select ENSP00000374467.4:p.Val1522Met
ENST00000642271.1:c.4561G>A ENSP00000493749.1:p.Val1521Met
ENST00000642579.1:c.2618G>A
ENST00000642611.1:n.5782G>A
ENST00000642902.1:c.4346G>A
ENST00000643260.1:c.4564G>A ENSP00000494450.1:p.Val1522Met
ENST00000643562.1:c.*2686G>A ENSP00000496124.1:n.*2686G>A
ENST00000643925.1:c.3185+525G>A
ENST00000644057.1:n.723G>A
ENST00000644484.1:c.*3950G>A ENSP00000493558.1:n.*3950G>A
ENST00000644675.1:c.*2736G>A ENSP00000494567.1:n.*2736G>A
ENST00000644757.1:c.*3203-761G>A ENSP00000495085.1:n.*3203-761G>A
ENST00000644772.1:c.4630G>A ENSP00000494321.1:p.Val1544Met
ENST00000645004.1:n.2257G>A
ENST00000645076.1:c.3659G>A
ENST00000645417.1:c.1752G>A
ENST00000645744.1:c.*4249G>A ENSP00000494564.1:n.*4249G>A
ENST00000645760.1:c.4985G>A
ENST00000645884.1:c.*1847G>A ENSP00000495516.1:n.*1847G>A
ENST00000646003.1:c.*2586G>A ENSP00000495259.1:n.*2586G>A
ENST00000646207.1:c.*3401G>A ENSP00000495025.1:n.*3401G>A
ENST00000646276.1:c.*3968G>A ENSP00000496070.1:n.*3968G>A
ENST00000646592.1:c.3870G>A
ENST00000646902.1:c.4531G>A ENSP00000494101.1:p.Val1511Met
ENST00000646993.1:c.*3002G>A ENSP00000493720.1:n.*3002G>A
ENST00000647015.1:c.4315G>A ENSP00000495389.1:p.Val1439Met
ENST00000647086.1:c.*4150G>A ENSP00000493677.1:n.*4150G>A
ENST00000647158.1:c.*2851G>A ENSP00000495744.1:n.*2851G>A
ENST00000302539.8:c.4567G>A ENSP00000303960.4:p.Val1523Met
ENST00000389817.7:c.4564G>A ENSP00000374467.3:p.Val1522Met
ENST00000525022.1:n.459G>A
ENST00000526037.5:n.324G>A
ENST00000526168.5:c.352G>A
ENST00000531642.5:c.595G>A
NM_000352.4:c.4564G>A NP_000343.2:p.Val1522Met
NM_001287174.1:c.4567G>A NP_001274103.1:p.Val1523Met
XM_011520331.1:c.4564G>A XP_011518633.1:p.Val1522Met
XM_011520333.1:c.3064G>A XP_011518635.1:p.Val1022Met
XR_930890.1:n.4526G>A
NM_001351295.1:c.4630G>A NP_001338224.1:p.Val1544Met
NM_001351296.1:c.4564G>A NP_001338225.1:p.Val1522Met
NM_001351297.1:c.4561G>A NP_001338226.1:p.Val1521Met
NR_147094.1:n.4859G>A
XM_017018197.2:c.4633G>A XP_016873686.1:p.Val1545Met
XM_017018199.1:c.4630G>A XP_016873688.1:p.Val1544Met
XM_017018202.1:c.3130G>A XP_016873691.1:p.Val1044Met
XM_017018204.1:c.2521G>A XP_016873693.1:p.Val841Met
XM_024448668.1:c.2932G>A XP_024304436.1:p.Val978Met
XR_001747945.2:n.4601G>A
XR_001747946.2:n.4532G>A
XR_002957189.1:n.6315G>A
NM_000352.6:c.4564G>A MANE Select NP_000343.2:p.Val1522Met
NM_001287174.2:c.4567G>A NP_001274103.1:p.Val1523Met
NM_001351295.2:c.4630G>A NP_001338224.1:p.Val1544Met
NM_001351296.2:c.4564G>A NP_001338225.1:p.Val1522Met
NM_001351297.2:c.4561G>A NP_001338226.1:p.Val1521Met
NR_147094.2:n.4859G>A
NM_001287174.3:c.4567G>A NP_001274103.1:p.Val1523Met