Canonical Allele Identifier: CA379782282
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1338496
ClinVar RCV Id: RCV001817867
dbSNP Id: rs2133393241

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393758T>C , CM000673.2:g.17393758T>C GRCh38
NC_000011.9:g.17415305T>C , CM000673.1:g.17415305T>C GRCh37
NC_000011.8:g.17371881T>C NCBI36
NG_008867.1:g.88145A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4148A>G
ENST00000526037.6:n.482A>G
ENST00000528374.2:c.1138A>G
ENST00000529967.6:n.2886A>G
ENST00000532220.2:n.3780A>G
ENST00000642611.2:n.5880A>G
ENST00000644057.2:n.1123A>G
ENST00000645004.2:n.2046A>G
ENST00000682051.1:n.4709A>G
ENST00000682110.1:n.4762A>G
ENST00000682140.1:c.*333A>G ENSP00000507829.1:n.*333A>G
ENST00000682185.1:n.5852A>G
ENST00000682204.1:c.*2685A>G ENSP00000507094.1:n.*2685A>G
ENST00000682215.1:n.5129A>G
ENST00000682288.1:c.*2978A>G ENSP00000507506.1:n.*2978A>G
ENST00000682442.1:n.4982A>G
ENST00000682528.1:n.4839A>G
ENST00000682673.1:n.4706A>G
ENST00000682805.1:n.5167A>G
ENST00000682965.1:c.*969A>G ENSP00000508229.1:n.*969A>G
ENST00000683093.1:n.5742A>G
ENST00000683136.1:c.4430A>G ENSP00000507768.1:p.Glu1477Gly
ENST00000683153.1:n.4804A>G
ENST00000683365.1:n.4864A>G
ENST00000683377.1:n.4658A>G
ENST00000683456.1:c.*1684A>G ENSP00000508318.1:n.*1684A>G
ENST00000683522.1:n.4844A>G
ENST00000683562.1:c.*2612A>G ENSP00000508265.1:n.*2612A>G
ENST00000683693.1:n.6223A>G
ENST00000683725.1:c.*12A>G ENSP00000507496.1:n.*12A>G
ENST00000684010.1:n.4757A>G
ENST00000684014.1:n.734A>G
ENST00000684157.1:n.5747A>G
ENST00000684253.1:n.4665A>G
ENST00000684288.1:c.*2719A>G ENSP00000507143.1:n.*2719A>G
ENST00000684313.1:n.4194A>G
ENST00000684332.1:n.4835A>G
ENST00000684371.1:n.4868A>G
ENST00000684404.1:n.5790A>G
ENST00000684442.1:n.4986A>G
ENST00000684555.1:c.*2759A>G ENSP00000507705.1:n.*2759A>G
ENST00000684571.1:c.4388A>G ENSP00000506935.1:p.Glu1463Gly
ENST00000684593.1:c.*4252A>G ENSP00000507005.1:n.*4252A>G
ENST00000684711.1:c.*2943A>G ENSP00000506841.1:n.*2943A>G
ENST00000302539.9:c.4550A>G ENSP00000303960.4:p.Glu1517Gly
ENST00000389817.8:c.4547A>G MANE Select ENSP00000374467.4:p.Glu1516Gly
ENST00000642271.1:c.4544A>G ENSP00000493749.1:p.Glu1515Gly
ENST00000642579.1:c.2601A>G
ENST00000642611.1:n.5765A>G
ENST00000642902.1:c.4329A>G
ENST00000643260.1:c.4547A>G ENSP00000494450.1:p.Glu1516Gly
ENST00000643562.1:c.*2669A>G ENSP00000496124.1:n.*2669A>G
ENST00000643925.1:c.3185+508A>G
ENST00000644057.1:n.706A>G
ENST00000644484.1:c.*3933A>G ENSP00000493558.1:n.*3933A>G
ENST00000644675.1:c.*2719A>G ENSP00000494567.1:n.*2719A>G
ENST00000644757.1:c.*3203-778A>G ENSP00000495085.1:n.*3203-778A>G
ENST00000644772.1:c.4613A>G ENSP00000494321.1:p.Glu1538Gly
ENST00000645004.1:n.2240A>G
ENST00000645076.1:c.3642A>G
ENST00000645417.1:c.1735A>G
ENST00000645744.1:c.*4232A>G ENSP00000494564.1:n.*4232A>G
ENST00000645760.1:c.4968A>G
ENST00000645884.1:c.*1830A>G ENSP00000495516.1:n.*1830A>G
ENST00000646003.1:c.*2569A>G ENSP00000495259.1:n.*2569A>G
ENST00000646207.1:c.*3384A>G ENSP00000495025.1:n.*3384A>G
ENST00000646276.1:c.*3951A>G ENSP00000496070.1:n.*3951A>G
ENST00000646592.1:c.3853A>G
ENST00000646902.1:c.4514A>G ENSP00000494101.1:p.Glu1505Gly
ENST00000646993.1:c.*2985A>G ENSP00000493720.1:n.*2985A>G
ENST00000647015.1:c.4298A>G ENSP00000495389.1:p.Glu1433Gly
ENST00000647086.1:c.*4133A>G ENSP00000493677.1:n.*4133A>G
ENST00000647158.1:c.*2834A>G ENSP00000495744.1:n.*2834A>G
ENST00000302539.8:c.4550A>G ENSP00000303960.4:p.Glu1517Gly
ENST00000389817.7:c.4547A>G ENSP00000374467.3:p.Glu1516Gly
ENST00000525022.1:n.442A>G
ENST00000526037.5:n.307A>G
ENST00000526168.5:c.335A>G
ENST00000531642.5:c.578A>G
NM_000352.4:c.4547A>G NP_000343.2:p.Glu1516Gly
NM_001287174.1:c.4550A>G NP_001274103.1:p.Glu1517Gly
XM_011520331.1:c.4547A>G XP_011518633.1:p.Glu1516Gly
XM_011520333.1:c.3047A>G XP_011518635.1:p.Glu1016Gly
XR_930890.1:n.4509A>G
NM_001351295.1:c.4613A>G NP_001338224.1:p.Glu1538Gly
NM_001351296.1:c.4547A>G NP_001338225.1:p.Glu1516Gly
NM_001351297.1:c.4544A>G NP_001338226.1:p.Glu1515Gly
NR_147094.1:n.4842A>G
XM_017018197.2:c.4616A>G XP_016873686.1:p.Glu1539Gly
XM_017018199.1:c.4613A>G XP_016873688.1:p.Glu1538Gly
XM_017018202.1:c.3113A>G XP_016873691.1:p.Glu1038Gly
XM_017018204.1:c.2504A>G XP_016873693.1:p.Glu835Gly
XM_024448668.1:c.2915A>G XP_024304436.1:p.Glu972Gly
XR_001747945.2:n.4584A>G
XR_001747946.2:n.4515A>G
XR_002957189.1:n.6298A>G
NM_000352.6:c.4547A>G MANE Select NP_000343.2:p.Glu1516Gly
NM_001287174.2:c.4550A>G NP_001274103.1:p.Glu1517Gly
NM_001351295.2:c.4613A>G NP_001338224.1:p.Glu1538Gly
NM_001351296.2:c.4547A>G NP_001338225.1:p.Glu1516Gly
NM_001351297.2:c.4544A>G NP_001338226.1:p.Glu1515Gly
NR_147094.2:n.4842A>G
NM_001287174.3:c.4550A>G NP_001274103.1:p.Glu1517Gly