Canonical Allele Identifier: CA473298477
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17418511C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396964C>A , CM000673.2:g.17396964C>A GRCh38
NC_000011.9:g.17418511C>A , CM000673.1:g.17418511C>A GRCh37
NC_000011.8:g.17375087C>A NCBI36
NG_008867.1:g.84939G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3672G>T
ENST00000528374.2:c.662G>T
ENST00000529967.6:n.2410G>T
ENST00000532220.2:n.2319G>T
ENST00000642611.2:n.4286G>T
ENST00000644057.2:n.514G>T
ENST00000645004.2:n.1570G>T
ENST00000682051.1:n.4233G>T
ENST00000682110.1:n.4286G>T
ENST00000682140.1:c.3985+229G>T ENSP00000507829.1:n.3985+229G>T
ENST00000682185.1:n.5376G>T
ENST00000682204.1:c.*2209G>T ENSP00000507094.1:n.*2209G>T
ENST00000682215.1:n.4653G>T
ENST00000682288.1:c.*2502G>T ENSP00000507506.1:n.*2502G>T
ENST00000682442.1:n.4506G>T
ENST00000682528.1:n.4363G>T
ENST00000682673.1:n.4230G>T
ENST00000682805.1:n.4653G>T
ENST00000682965.1:c.*493G>T ENSP00000508229.1:n.*493G>T
ENST00000683093.1:n.4385G>T
ENST00000683136.1:c.3954G>T ENSP00000507768.1:p.Leu1318=
ENST00000683153.1:n.4328G>T
ENST00000683365.1:n.4388G>T
ENST00000683377.1:n.4286G>T
ENST00000683456.1:c.*1208G>T ENSP00000508318.1:n.*1208G>T
ENST00000683522.1:n.4286G>T
ENST00000683562.1:c.*2240G>T ENSP00000508265.1:n.*2240G>T
ENST00000683693.1:n.4733G>T
ENST00000683725.1:c.4071G>T ENSP00000507496.1:p.Leu1357=
ENST00000684010.1:n.4281G>T
ENST00000684157.1:n.4286G>T
ENST00000684253.1:n.4189G>T
ENST00000684288.1:c.*2243G>T ENSP00000507143.1:n.*2243G>T
ENST00000684313.1:n.3718G>T
ENST00000684332.1:n.4359G>T
ENST00000684371.1:n.4392G>T
ENST00000684404.1:n.4329G>T
ENST00000684442.1:n.4510G>T
ENST00000684555.1:c.*2283G>T ENSP00000507705.1:n.*2283G>T
ENST00000684571.1:c.3912G>T ENSP00000506935.1:p.Leu1304=
ENST00000684593.1:c.*3776G>T ENSP00000507005.1:n.*3776G>T
ENST00000684711.1:c.*2467G>T ENSP00000506841.1:n.*2467G>T
ENST00000302539.9:c.4074G>T ENSP00000303960.4:p.Leu1358=
ENST00000389817.8:c.4071G>T MANE Select ENSP00000374467.4:p.Leu1357=
ENST00000642271.1:c.4068G>T ENSP00000493749.1:p.Leu1356=
ENST00000642579.1:c.2125G>T
ENST00000642611.1:n.4171G>T
ENST00000642902.1:c.3853G>T
ENST00000643260.1:c.4071G>T ENSP00000494450.1:p.Leu1357=
ENST00000643562.1:c.*2193G>T ENSP00000496124.1:n.*2193G>T
ENST00000643925.1:c.2711G>T
ENST00000644057.1:n.148G>T
ENST00000644484.1:c.*2472G>T ENSP00000493558.1:n.*2472G>T
ENST00000644675.1:c.*2243G>T ENSP00000494567.1:n.*2243G>T
ENST00000644757.1:c.*2502G>T ENSP00000495085.1:n.*2502G>T
ENST00000644772.1:c.4137G>T ENSP00000494321.1:p.Leu1379=
ENST00000645004.1:n.1726G>T
ENST00000645076.1:c.3270G>T
ENST00000645417.1:c.1259G>T
ENST00000645744.1:c.*2851G>T ENSP00000494564.1:n.*2851G>T
ENST00000645760.1:c.4492G>T
ENST00000645884.1:c.*1354G>T ENSP00000495516.1:n.*1354G>T
ENST00000646003.1:c.*2173G>T ENSP00000495259.1:n.*2173G>T
ENST00000646207.1:c.*2908G>T ENSP00000495025.1:n.*2908G>T
ENST00000646276.1:c.*2490G>T ENSP00000496070.1:n.*2490G>T
ENST00000646592.1:c.3377G>T
ENST00000646902.1:c.4038G>T ENSP00000494101.1:p.Leu1346=
ENST00000646993.1:c.*2613G>T ENSP00000493720.1:n.*2613G>T
ENST00000647013.1:c.4077G>T ENSP00000496741.1:n.4077G>T
ENST00000647015.1:c.3822G>T ENSP00000495389.1:p.Leu1274=
ENST00000647086.1:c.*3657G>T ENSP00000493677.1:n.*3657G>T
ENST00000647158.1:c.*2358G>T ENSP00000495744.1:n.*2358G>T
ENST00000302539.8:c.4074G>T ENSP00000303960.4:p.Leu1358=
ENST00000389817.7:c.4071G>T ENSP00000374467.3:p.Leu1357=
ENST00000527905.5:c.*1093G>T ENSP00000431653.1:n.*1093G>T
ENST00000528374.1:c.553G>T
ENST00000531137.1:n.636G>T
ENST00000531891.1:c.409G>T
ENST00000532220.1:n.545G>T
NM_000352.4:c.4071G>T NP_000343.2:p.Leu1357=
NM_001287174.1:c.4074G>T NP_001274103.1:p.Leu1358=
XM_011520331.1:c.4071G>T XP_011518633.1:p.Leu1357=
XM_011520332.1:c.4074G>T XP_011518634.1:p.Leu1358=
XM_011520333.1:c.2571G>T XP_011518635.1:p.Leu857=
XR_930890.1:n.4137G>T
NM_001351295.1:c.4137G>T NP_001338224.1:p.Leu1379=
NM_001351296.1:c.4071G>T NP_001338225.1:p.Leu1357=
NM_001351297.1:c.4068G>T NP_001338226.1:p.Leu1356=
NR_147094.1:n.4366G>T
XM_017018197.2:c.4140G>T XP_016873686.1:p.Leu1380=
XM_017018199.1:c.4137G>T XP_016873688.1:p.Leu1379=
XM_017018201.2:c.4140G>T XP_016873690.1:p.Leu1380=
XM_017018202.1:c.2637G>T XP_016873691.1:p.Leu879=
XM_017018204.1:c.2028G>T XP_016873693.1:p.Leu676=
XM_024448668.1:c.2439G>T XP_024304436.1:p.Leu813=
XR_001747945.2:n.4212G>T
XR_001747946.2:n.4143G>T
XR_002957189.1:n.4808G>T
NM_000352.6:c.4071G>T MANE Select NP_000343.2:p.Leu1357=
NM_001287174.2:c.4074G>T NP_001274103.1:p.Leu1358=
NM_001351295.2:c.4137G>T NP_001338224.1:p.Leu1379=
NM_001351296.2:c.4071G>T NP_001338225.1:p.Leu1357=
NM_001351297.2:c.4068G>T NP_001338226.1:p.Leu1356=
NR_147094.2:n.4366G>T
NM_001287174.3:c.4074G>T NP_001274103.1:p.Leu1358=