Canonical Allele Identifier: CA379803138
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406904T>C , CM000673.2:g.17406904T>C GRCh38
NC_000011.9:g.17428451T>C , CM000673.1:g.17428451T>C GRCh37
NC_000011.8:g.17385027T>C NCBI36
NG_008867.1:g.74999A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2715A>G
ENST00000529967.6:n.1485A>G
ENST00000532220.2:n.878A>G
ENST00000642611.2:n.3215A>G
ENST00000645004.2:n.645A>G
ENST00000682051.1:n.3162A>G
ENST00000682110.1:n.3215A>G
ENST00000682140.1:c.3143A>G ENSP00000507829.1:p.Asn1048Ser
ENST00000682185.1:n.4451A>G
ENST00000682204.1:c.*1284A>G ENSP00000507094.1:n.*1284A>G
ENST00000682215.1:n.3212A>G
ENST00000682288.1:c.*1577A>G ENSP00000507506.1:n.*1577A>G
ENST00000682442.1:n.3336A>G
ENST00000682528.1:n.3292A>G
ENST00000682673.1:n.3159A>G
ENST00000682805.1:n.3212A>G
ENST00000682965.1:c.3143A>G ENSP00000508229.1:p.Asn1048Ser
ENST00000683093.1:n.3314A>G
ENST00000683136.1:c.3143A>G ENSP00000507768.1:p.Asn1048Ser
ENST00000683153.1:n.3371A>G
ENST00000683365.1:n.3317A>G
ENST00000683377.1:n.3215A>G
ENST00000683456.1:c.*283A>G ENSP00000508318.1:n.*283A>G
ENST00000683522.1:n.3215A>G
ENST00000683562.1:c.*1315A>G ENSP00000508265.1:n.*1315A>G
ENST00000683693.1:n.3292A>G
ENST00000683725.1:c.3146A>G ENSP00000507496.1:p.Asn1049Ser
ENST00000684010.1:n.3210A>G
ENST00000684157.1:n.3215A>G
ENST00000684253.1:n.3118A>G
ENST00000684288.1:c.*1318A>G ENSP00000507143.1:n.*1318A>G
ENST00000684313.1:n.2647A>G
ENST00000684332.1:n.3288A>G
ENST00000684371.1:n.3321A>G
ENST00000684404.1:n.3258A>G
ENST00000684442.1:n.3215A>G
ENST00000684555.1:c.*1358A>G ENSP00000507705.1:n.*1358A>G
ENST00000684571.1:c.2987A>G ENSP00000506935.1:p.Asn996Ser
ENST00000684593.1:c.*2851A>G ENSP00000507005.1:n.*2851A>G
ENST00000684711.1:c.*1542A>G ENSP00000506841.1:n.*1542A>G
ENST00000302539.9:c.3149A>G ENSP00000303960.4:p.Asn1050Ser
ENST00000389817.8:c.3146A>G MANE Select ENSP00000374467.4:p.Asn1049Ser
ENST00000642271.1:c.3143A>G ENSP00000493749.1:p.Asn1048Ser
ENST00000642579.1:c.1230A>G
ENST00000642611.1:n.3100A>G
ENST00000642902.1:c.2928A>G
ENST00000643260.1:c.3146A>G ENSP00000494450.1:p.Asn1049Ser
ENST00000643562.1:c.*1122A>G ENSP00000496124.1:n.*1122A>G
ENST00000643925.1:c.1270A>G
ENST00000644447.1:c.1502A>G ENSP00000496282.1:p.Asn501Ser
ENST00000644484.1:c.*1401A>G ENSP00000493558.1:n.*1401A>G
ENST00000644542.1:c.*2851A>G ENSP00000495532.1:n.*2851A>G
ENST00000644675.1:c.*1318A>G ENSP00000494567.1:n.*1318A>G
ENST00000644757.1:c.*1431A>G ENSP00000495085.1:n.*1431A>G
ENST00000644772.1:c.3212A>G ENSP00000494321.1:p.Asn1071Ser
ENST00000645004.1:n.285A>G
ENST00000645076.1:c.2345A>G
ENST00000645417.1:c.312A>G
ENST00000645744.1:c.*1410A>G ENSP00000494564.1:n.*1410A>G
ENST00000645760.1:c.3421A>G
ENST00000645884.1:c.*283A>G ENSP00000495516.1:n.*283A>G
ENST00000646003.1:c.*1102A>G ENSP00000495259.1:n.*1102A>G
ENST00000646207.1:c.*1613A>G ENSP00000495025.1:n.*1613A>G
ENST00000646276.1:c.*1419A>G ENSP00000496070.1:n.*1419A>G
ENST00000646592.1:c.2452A>G
ENST00000646902.1:c.3143A>G ENSP00000494101.1:p.Asn1048Ser
ENST00000646993.1:c.*1542A>G ENSP00000493720.1:n.*1542A>G
ENST00000647013.1:c.3152A>G ENSP00000496741.1:n.3152A>G
ENST00000647015.1:c.2897A>G ENSP00000495389.1:p.Asn966Ser
ENST00000647086.1:c.*2876A>G ENSP00000493677.1:n.*2876A>G
ENST00000647158.1:c.*1287A>G ENSP00000495744.1:n.*1287A>G
ENST00000302539.8:c.3149A>G ENSP00000303960.4:p.Asn1050Ser
ENST00000389817.7:c.3146A>G ENSP00000374467.3:p.Asn1049Ser
ENST00000524561.1:n.278A>G
ENST00000526921.5:n.830A>G
ENST00000527905.5:c.*22A>G ENSP00000431653.1:n.*22A>G
ENST00000529967.5:n.815A>G
NM_000352.4:c.3146A>G NP_000343.2:p.Asn1049Ser
NM_001287174.1:c.3149A>G NP_001274103.1:p.Asn1050Ser
XM_011520331.1:c.3146A>G XP_011518633.1:p.Asn1049Ser
XM_011520332.1:c.3149A>G XP_011518634.1:p.Asn1050Ser
XM_011520333.1:c.1646A>G XP_011518635.1:p.Asn549Ser
XR_930890.1:n.3212A>G
XR_930891.1:n.3212A>G
XR_930892.1:n.3112A>G
XR_930893.1:n.3109A>G
NM_001351295.1:c.3212A>G NP_001338224.1:p.Asn1071Ser
NM_001351296.1:c.3146A>G NP_001338225.1:p.Asn1049Ser
NM_001351297.1:c.3143A>G NP_001338226.1:p.Asn1048Ser
NR_147094.1:n.3295A>G
XM_017018197.2:c.3215A>G XP_016873686.1:p.Asn1072Ser
XM_017018199.1:c.3212A>G XP_016873688.1:p.Asn1071Ser
XM_017018201.2:c.3215A>G XP_016873690.1:p.Asn1072Ser
XM_017018202.1:c.1712A>G XP_016873691.1:p.Asn571Ser
XM_017018204.1:c.1103A>G XP_016873693.1:p.Asn368Ser
XM_024448668.1:c.1514A>G XP_024304436.1:p.Asn505Ser
XR_001747945.2:n.3287A>G
XR_001747946.2:n.3218A>G
XR_002957189.1:n.3367A>G
NM_000352.6:c.3146A>G MANE Select NP_000343.2:p.Asn1049Ser
NM_001287174.2:c.3149A>G NP_001274103.1:p.Asn1050Ser
NM_001351295.2:c.3212A>G NP_001338224.1:p.Asn1071Ser
NM_001351296.2:c.3146A>G NP_001338225.1:p.Asn1049Ser
NM_001351297.2:c.3143A>G NP_001338226.1:p.Asn1048Ser
NR_147094.2:n.3295A>G
NM_001287174.3:c.3149A>G NP_001274103.1:p.Asn1050Ser