Canonical Allele Identifier: CA379783520
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394366C>T , CM000673.2:g.17394366C>T GRCh38
NC_000011.9:g.17415913C>T , CM000673.1:g.17415913C>T GRCh37
NC_000011.8:g.17372489C>T NCBI36
NG_008867.1:g.87537G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4046G>A
ENST00000526037.6:n.380G>A
ENST00000528374.2:c.1036G>A
ENST00000529967.6:n.2784G>A
ENST00000532220.2:n.3678G>A
ENST00000642611.2:n.5778G>A
ENST00000644057.2:n.1021G>A
ENST00000645004.2:n.1944G>A
ENST00000682051.1:n.4607G>A
ENST00000682110.1:n.4660G>A
ENST00000682140.1:c.*231G>A ENSP00000507829.1:n.*231G>A
ENST00000682185.1:n.5750G>A
ENST00000682204.1:c.*2583G>A ENSP00000507094.1:n.*2583G>A
ENST00000682215.1:n.5027G>A
ENST00000682288.1:c.*2876G>A ENSP00000507506.1:n.*2876G>A
ENST00000682442.1:n.4880G>A
ENST00000682528.1:n.4737G>A
ENST00000682673.1:n.4604G>A
ENST00000682805.1:n.5065G>A
ENST00000682965.1:c.*867G>A ENSP00000508229.1:n.*867G>A
ENST00000683093.1:n.5640G>A
ENST00000683136.1:c.4328G>A ENSP00000507768.1:p.Ser1443Asn
ENST00000683153.1:n.4702G>A
ENST00000683365.1:n.4762G>A
ENST00000683377.1:n.4556G>A
ENST00000683456.1:c.*1582G>A ENSP00000508318.1:n.*1582G>A
ENST00000683522.1:n.4742G>A
ENST00000683562.1:c.*2510G>A ENSP00000508265.1:n.*2510G>A
ENST00000683693.1:n.6121G>A
ENST00000683725.1:c.4341G>A ENSP00000507496.1:p.Gln1447=
ENST00000684010.1:n.4655G>A
ENST00000684014.1:n.632G>A
ENST00000684157.1:n.5645G>A
ENST00000684253.1:n.4563G>A
ENST00000684288.1:c.*2617G>A ENSP00000507143.1:n.*2617G>A
ENST00000684313.1:n.4092G>A
ENST00000684332.1:n.4733G>A
ENST00000684371.1:n.4766G>A
ENST00000684404.1:n.5688G>A
ENST00000684442.1:n.4884G>A
ENST00000684555.1:c.*2657G>A ENSP00000507705.1:n.*2657G>A
ENST00000684571.1:c.4286G>A ENSP00000506935.1:p.Ser1429Asn
ENST00000684593.1:c.*4150G>A ENSP00000507005.1:n.*4150G>A
ENST00000684711.1:c.*2841G>A ENSP00000506841.1:n.*2841G>A
ENST00000302539.9:c.4448G>A ENSP00000303960.4:p.Ser1483Asn
ENST00000389817.8:c.4445G>A MANE Select ENSP00000374467.4:p.Ser1482Asn
ENST00000642271.1:c.4442G>A ENSP00000493749.1:p.Ser1481Asn
ENST00000642579.1:c.2499G>A
ENST00000642611.1:n.5663G>A
ENST00000642902.1:c.4227G>A
ENST00000643260.1:c.4445G>A ENSP00000494450.1:p.Ser1482Asn
ENST00000643562.1:c.*2567G>A ENSP00000496124.1:n.*2567G>A
ENST00000643925.1:c.3085G>A
ENST00000644057.1:n.604G>A
ENST00000644484.1:c.*3831G>A ENSP00000493558.1:n.*3831G>A
ENST00000644675.1:c.*2617G>A ENSP00000494567.1:n.*2617G>A
ENST00000644757.1:c.*3203-1386G>A ENSP00000495085.1:n.*3203-1386G>A
ENST00000644772.1:c.4511G>A ENSP00000494321.1:p.Ser1504Asn
ENST00000645004.1:n.2138G>A
ENST00000645076.1:c.3540G>A
ENST00000645417.1:c.1633G>A
ENST00000645744.1:c.*4130G>A ENSP00000494564.1:n.*4130G>A
ENST00000645760.1:c.4866G>A
ENST00000645884.1:c.*1728G>A ENSP00000495516.1:n.*1728G>A
ENST00000646003.1:c.*2467G>A ENSP00000495259.1:n.*2467G>A
ENST00000646207.1:c.*3282G>A ENSP00000495025.1:n.*3282G>A
ENST00000646276.1:c.*3849G>A ENSP00000496070.1:n.*3849G>A
ENST00000646592.1:c.3751G>A
ENST00000646902.1:c.4412G>A ENSP00000494101.1:p.Ser1471Asn
ENST00000646993.1:c.*2883G>A ENSP00000493720.1:n.*2883G>A
ENST00000647013.1:c.4451G>A ENSP00000496741.1:n.4451G>A
ENST00000647015.1:c.4196G>A ENSP00000495389.1:p.Ser1399Asn
ENST00000647086.1:c.*4031G>A ENSP00000493677.1:n.*4031G>A
ENST00000647158.1:c.*2732G>A ENSP00000495744.1:n.*2732G>A
ENST00000302539.8:c.4448G>A ENSP00000303960.4:p.Ser1483Asn
ENST00000389817.7:c.4445G>A ENSP00000374467.3:p.Ser1482Asn
ENST00000525022.1:n.340G>A
ENST00000526037.5:n.205G>A
ENST00000526168.5:c.233G>A
ENST00000531642.5:c.476G>A
NM_000352.4:c.4445G>A NP_000343.2:p.Ser1482Asn
NM_001287174.1:c.4448G>A NP_001274103.1:p.Ser1483Asn
XM_011520331.1:c.4445G>A XP_011518633.1:p.Ser1482Asn
XM_011520332.1:c.4344G>A XP_011518634.1:p.Gln1448=
XM_011520333.1:c.2945G>A XP_011518635.1:p.Ser982Asn
XR_930890.1:n.4407G>A
NM_001351295.1:c.4511G>A NP_001338224.1:p.Ser1504Asn
NM_001351296.1:c.4445G>A NP_001338225.1:p.Ser1482Asn
NM_001351297.1:c.4442G>A NP_001338226.1:p.Ser1481Asn
NR_147094.1:n.4740G>A
XM_017018197.2:c.4514G>A XP_016873686.1:p.Ser1505Asn
XM_017018199.1:c.4511G>A XP_016873688.1:p.Ser1504Asn
XM_017018201.2:c.4410G>A XP_016873690.1:p.Gln1470=
XM_017018202.1:c.3011G>A XP_016873691.1:p.Ser1004Asn
XM_017018204.1:c.2402G>A XP_016873693.1:p.Ser801Asn
XM_024448668.1:c.2813G>A XP_024304436.1:p.Ser938Asn
XR_001747945.2:n.4482G>A
XR_001747946.2:n.4413G>A
XR_002957189.1:n.6196G>A
NM_000352.6:c.4445G>A MANE Select NP_000343.2:p.Ser1482Asn
NM_001287174.2:c.4448G>A NP_001274103.1:p.Ser1483Asn
NM_001351295.2:c.4511G>A NP_001338224.1:p.Ser1504Asn
NM_001351296.2:c.4445G>A NP_001338225.1:p.Ser1482Asn
NM_001351297.2:c.4442G>A NP_001338226.1:p.Ser1481Asn
NR_147094.2:n.4740G>A
NM_001287174.3:c.4448G>A NP_001274103.1:p.Ser1483Asn