Canonical Allele Identifier: CA379791213
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397032G>T , CM000673.2:g.17397032G>T GRCh38
NC_000011.9:g.17418579G>T , CM000673.1:g.17418579G>T GRCh37
NC_000011.8:g.17375155G>T NCBI36
NG_008867.1:g.84871C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3604C>A
ENST00000528374.2:c.594C>A
ENST00000529967.6:n.2342C>A
ENST00000532220.2:n.2251C>A
ENST00000642611.2:n.4218C>A
ENST00000644057.2:n.446C>A
ENST00000645004.2:n.1502C>A
ENST00000682051.1:n.4165C>A
ENST00000682110.1:n.4218C>A
ENST00000682140.1:c.3985+161C>A ENSP00000507829.1:n.3985+161C>A
ENST00000682185.1:n.5308C>A
ENST00000682204.1:c.*2141C>A ENSP00000507094.1:n.*2141C>A
ENST00000682215.1:n.4585C>A
ENST00000682288.1:c.*2434C>A ENSP00000507506.1:n.*2434C>A
ENST00000682442.1:n.4438C>A
ENST00000682528.1:n.4295C>A
ENST00000682673.1:n.4162C>A
ENST00000682805.1:n.4585C>A
ENST00000682965.1:c.*425C>A ENSP00000508229.1:n.*425C>A
ENST00000683093.1:n.4317C>A
ENST00000683136.1:c.3886C>A ENSP00000507768.1:p.Pro1296Thr
ENST00000683153.1:n.4260C>A
ENST00000683365.1:n.4320C>A
ENST00000683377.1:n.4218C>A
ENST00000683456.1:c.*1140C>A ENSP00000508318.1:n.*1140C>A
ENST00000683522.1:n.4218C>A
ENST00000683562.1:c.*2172C>A ENSP00000508265.1:n.*2172C>A
ENST00000683693.1:n.4665C>A
ENST00000683725.1:c.4003C>A ENSP00000507496.1:p.Pro1335Thr
ENST00000684010.1:n.4213C>A
ENST00000684157.1:n.4218C>A
ENST00000684253.1:n.4121C>A
ENST00000684288.1:c.*2175C>A ENSP00000507143.1:n.*2175C>A
ENST00000684313.1:n.3650C>A
ENST00000684332.1:n.4291C>A
ENST00000684371.1:n.4324C>A
ENST00000684404.1:n.4261C>A
ENST00000684442.1:n.4442C>A
ENST00000684555.1:c.*2215C>A ENSP00000507705.1:n.*2215C>A
ENST00000684571.1:c.3844C>A ENSP00000506935.1:p.Pro1282Thr
ENST00000684593.1:c.*3708C>A ENSP00000507005.1:n.*3708C>A
ENST00000684711.1:c.*2399C>A ENSP00000506841.1:n.*2399C>A
ENST00000302539.9:c.4006C>A ENSP00000303960.4:p.Pro1336Thr
ENST00000389817.8:c.4003C>A MANE Select ENSP00000374467.4:p.Pro1335Thr
ENST00000642271.1:c.4000C>A ENSP00000493749.1:p.Pro1334Thr
ENST00000642579.1:c.2073-16C>A
ENST00000642611.1:n.4103C>A
ENST00000642902.1:c.3785C>A
ENST00000643260.1:c.4003C>A ENSP00000494450.1:p.Pro1335Thr
ENST00000643562.1:c.*2125C>A ENSP00000496124.1:n.*2125C>A
ENST00000643925.1:c.2643C>A
ENST00000644057.1:n.80C>A
ENST00000644484.1:c.*2404C>A ENSP00000493558.1:n.*2404C>A
ENST00000644675.1:c.*2175C>A ENSP00000494567.1:n.*2175C>A
ENST00000644757.1:c.*2434C>A ENSP00000495085.1:n.*2434C>A
ENST00000644772.1:c.4069C>A ENSP00000494321.1:p.Pro1357Thr
ENST00000645004.1:n.1658C>A
ENST00000645076.1:c.3202C>A
ENST00000645417.1:c.1191C>A
ENST00000645744.1:c.*2783C>A ENSP00000494564.1:n.*2783C>A
ENST00000645760.1:c.4424C>A
ENST00000645884.1:c.*1286C>A ENSP00000495516.1:n.*1286C>A
ENST00000646003.1:c.*2105C>A ENSP00000495259.1:n.*2105C>A
ENST00000646207.1:c.*2840C>A ENSP00000495025.1:n.*2840C>A
ENST00000646276.1:c.*2422C>A ENSP00000496070.1:n.*2422C>A
ENST00000646592.1:c.3309C>A
ENST00000646902.1:c.3986-16C>A ENSP00000494101.1:n.3986-16C>A
ENST00000646993.1:c.*2545C>A ENSP00000493720.1:n.*2545C>A
ENST00000647013.1:c.4009C>A ENSP00000496741.1:n.4009C>A
ENST00000647015.1:c.3754C>A ENSP00000495389.1:p.Pro1252Thr
ENST00000647086.1:c.*3605-16C>A ENSP00000493677.1:n.*3605-16C>A
ENST00000647158.1:c.*2290C>A ENSP00000495744.1:n.*2290C>A
ENST00000302539.8:c.4006C>A ENSP00000303960.4:p.Pro1336Thr
ENST00000389817.7:c.4003C>A ENSP00000374467.3:p.Pro1335Thr
ENST00000527905.5:c.*1025C>A ENSP00000431653.1:n.*1025C>A
ENST00000528374.1:c.485C>A
ENST00000531137.1:n.568C>A
ENST00000531891.1:c.357-16C>A
ENST00000532220.1:n.477C>A
NM_000352.4:c.4003C>A NP_000343.2:p.Pro1335Thr
NM_001287174.1:c.4006C>A NP_001274103.1:p.Pro1336Thr
XM_011520331.1:c.4003C>A XP_011518633.1:p.Pro1335Thr
XM_011520332.1:c.4006C>A XP_011518634.1:p.Pro1336Thr
XM_011520333.1:c.2503C>A XP_011518635.1:p.Pro835Thr
XR_930890.1:n.4069C>A
NM_001351295.1:c.4069C>A NP_001338224.1:p.Pro1357Thr
NM_001351296.1:c.4003C>A NP_001338225.1:p.Pro1335Thr
NM_001351297.1:c.4000C>A NP_001338226.1:p.Pro1334Thr
NR_147094.1:n.4298C>A
XM_017018197.2:c.4072C>A XP_016873686.1:p.Pro1358Thr
XM_017018199.1:c.4069C>A XP_016873688.1:p.Pro1357Thr
XM_017018201.2:c.4072C>A XP_016873690.1:p.Pro1358Thr
XM_017018202.1:c.2569C>A XP_016873691.1:p.Pro857Thr
XM_017018204.1:c.1960C>A XP_016873693.1:p.Pro654Thr
XM_024448668.1:c.2371C>A XP_024304436.1:p.Pro791Thr
XR_001747945.2:n.4144C>A
XR_001747946.2:n.4075C>A
XR_002957189.1:n.4740C>A
NM_000352.6:c.4003C>A MANE Select NP_000343.2:p.Pro1335Thr
NM_001287174.2:c.4006C>A NP_001274103.1:p.Pro1336Thr
NM_001351295.2:c.4069C>A NP_001338224.1:p.Pro1357Thr
NM_001351296.2:c.4003C>A NP_001338225.1:p.Pro1335Thr
NM_001351297.2:c.4000C>A NP_001338226.1:p.Pro1334Thr
NR_147094.2:n.4298C>A
NM_001287174.3:c.4006C>A NP_001274103.1:p.Pro1336Thr