Canonical Allele Identifier: CA473516155
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17428666A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17407119A>C , CM000673.2:g.17407119A>C GRCh38
NC_000011.9:g.17428666A>C , CM000673.1:g.17428666A>C GRCh37
NC_000011.8:g.17385242A>C NCBI36
NG_008867.1:g.74784T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2500T>G
ENST00000529967.6:n.1270T>G
ENST00000532220.2:n.663T>G
ENST00000642611.2:n.3000T>G
ENST00000645004.2:n.430T>G
ENST00000682051.1:n.2947T>G
ENST00000682110.1:n.3000T>G
ENST00000682140.1:c.2928T>G ENSP00000507829.1:p.Ala976=
ENST00000682185.1:n.4236T>G
ENST00000682204.1:c.*1069T>G ENSP00000507094.1:n.*1069T>G
ENST00000682215.1:n.2997T>G
ENST00000682288.1:c.*1362T>G ENSP00000507506.1:n.*1362T>G
ENST00000682442.1:n.3121T>G
ENST00000682528.1:n.3077T>G
ENST00000682673.1:n.2944T>G
ENST00000682805.1:n.2997T>G
ENST00000682965.1:c.2928T>G ENSP00000508229.1:p.Ala976=
ENST00000683093.1:n.3099T>G
ENST00000683136.1:c.2928T>G ENSP00000507768.1:p.Ala976=
ENST00000683153.1:n.3156T>G
ENST00000683365.1:n.3102T>G
ENST00000683377.1:n.3000T>G
ENST00000683456.1:c.*68T>G ENSP00000508318.1:n.*68T>G
ENST00000683522.1:n.3000T>G
ENST00000683562.1:c.*1100T>G ENSP00000508265.1:n.*1100T>G
ENST00000683693.1:n.3077T>G
ENST00000683725.1:c.2931T>G ENSP00000507496.1:p.Ala977=
ENST00000684010.1:n.2995T>G
ENST00000684157.1:n.3000T>G
ENST00000684253.1:n.2903T>G
ENST00000684288.1:c.*1103T>G ENSP00000507143.1:n.*1103T>G
ENST00000684313.1:n.2432T>G
ENST00000684332.1:n.3073T>G
ENST00000684371.1:n.3106T>G
ENST00000684404.1:n.3043T>G
ENST00000684442.1:n.3000T>G
ENST00000684555.1:c.*1143T>G ENSP00000507705.1:n.*1143T>G
ENST00000684571.1:c.2772T>G ENSP00000506935.1:p.Ala924=
ENST00000684593.1:c.*2636T>G ENSP00000507005.1:n.*2636T>G
ENST00000684711.1:c.*1327T>G ENSP00000506841.1:n.*1327T>G
ENST00000302539.9:c.2934T>G ENSP00000303960.4:p.Ala978=
ENST00000389817.8:c.2931T>G MANE Select ENSP00000374467.4:p.Ala977=
ENST00000642271.1:c.2928T>G ENSP00000493749.1:p.Ala976=
ENST00000642579.1:c.1015T>G
ENST00000642611.1:n.2885T>G
ENST00000642902.1:c.2756-43T>G
ENST00000643260.1:c.2931T>G ENSP00000494450.1:p.Ala977=
ENST00000643562.1:c.*907T>G ENSP00000496124.1:n.*907T>G
ENST00000643925.1:c.1055T>G
ENST00000644447.1:c.1287T>G ENSP00000496282.1:p.Ala429=
ENST00000644484.1:c.*1186T>G ENSP00000493558.1:n.*1186T>G
ENST00000644542.1:c.*2636T>G ENSP00000495532.1:n.*2636T>G
ENST00000644675.1:c.*1103T>G ENSP00000494567.1:n.*1103T>G
ENST00000644757.1:c.*1216T>G ENSP00000495085.1:n.*1216T>G
ENST00000644772.1:c.2997T>G ENSP00000494321.1:p.Ala999=
ENST00000645004.1:n.70T>G
ENST00000645076.1:c.2173-43T>G
ENST00000645417.1:c.97T>G
ENST00000645744.1:c.*1195T>G ENSP00000494564.1:n.*1195T>G
ENST00000645760.1:c.3206T>G
ENST00000645884.1:c.*68T>G ENSP00000495516.1:n.*68T>G
ENST00000646003.1:c.*887T>G ENSP00000495259.1:n.*887T>G
ENST00000646207.1:c.*1398T>G ENSP00000495025.1:n.*1398T>G
ENST00000646276.1:c.*1204T>G ENSP00000496070.1:n.*1204T>G
ENST00000646592.1:c.2237T>G
ENST00000646902.1:c.2928T>G ENSP00000494101.1:p.Ala976=
ENST00000646993.1:c.*1327T>G ENSP00000493720.1:n.*1327T>G
ENST00000647013.1:c.2937T>G ENSP00000496741.1:n.2937T>G
ENST00000647015.1:c.2682T>G ENSP00000495389.1:p.Ala894=
ENST00000647086.1:c.*2661T>G ENSP00000493677.1:n.*2661T>G
ENST00000647158.1:c.*1072T>G ENSP00000495744.1:n.*1072T>G
ENST00000302539.8:c.2934T>G ENSP00000303960.4:p.Ala978=
ENST00000389817.7:c.2931T>G ENSP00000374467.3:p.Ala977=
ENST00000524561.1:n.63T>G
ENST00000526921.5:n.615T>G
ENST00000527905.5:c.2801T>G ENSP00000431653.1:p.Leu934Arg
ENST00000529967.5:n.600T>G
NM_000352.4:c.2931T>G NP_000343.2:p.Ala977=
NM_001287174.1:c.2934T>G NP_001274103.1:p.Ala978=
XM_011520331.1:c.2931T>G XP_011518633.1:p.Ala977=
XM_011520332.1:c.2934T>G XP_011518634.1:p.Ala978=
XM_011520333.1:c.1431T>G XP_011518635.1:p.Ala477=
XR_930890.1:n.2997T>G
XR_930891.1:n.2997T>G
XR_930892.1:n.2897T>G
XR_930893.1:n.2894T>G
NM_001351295.1:c.2997T>G NP_001338224.1:p.Ala999=
NM_001351296.1:c.2931T>G NP_001338225.1:p.Ala977=
NM_001351297.1:c.2928T>G NP_001338226.1:p.Ala976=
NR_147094.1:n.3080T>G
XM_017018197.2:c.3000T>G XP_016873686.1:p.Ala1000=
XM_017018199.1:c.2997T>G XP_016873688.1:p.Ala999=
XM_017018201.2:c.3000T>G XP_016873690.1:p.Ala1000=
XM_017018202.1:c.1497T>G XP_016873691.1:p.Ala499=
XM_017018204.1:c.888T>G XP_016873693.1:p.Ala296=
XM_024448668.1:c.1299T>G XP_024304436.1:p.Ala433=
XR_001747945.2:n.3072T>G
XR_001747946.2:n.3003T>G
XR_002957189.1:n.3152T>G
NM_000352.6:c.2931T>G MANE Select NP_000343.2:p.Ala977=
NM_001287174.2:c.2934T>G NP_001274103.1:p.Ala978=
NM_001351295.2:c.2997T>G NP_001338224.1:p.Ala999=
NM_001351296.2:c.2931T>G NP_001338225.1:p.Ala977=
NM_001351297.2:c.2928T>G NP_001338226.1:p.Ala976=
NR_147094.2:n.3080T>G
NM_001287174.3:c.2934T>G NP_001274103.1:p.Ala978=