Canonical Allele Identifier: CA379794069

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17398359T>A , CM000673.2:g.17398359T>A	GRCh38
NC_000011.9:g.17419906T>A , CM000673.1:g.17419906T>A	GRCh37
NC_000011.8:g.17376482T>A	NCBI36
NG_008867.1:g.83544A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3733A>T MANE Select	NP_000343.2:p.Arg1245Ter
ENST00000389817.8:c.3733A>T MANE Select	ENSP00000374467.4:p.Arg1245Ter
NM_000352.4:c.3733A>T	NP_000343.2:p.Arg1245Ter
NM_001287174.1:c.3736A>T	NP_001274103.1:p.Arg1246Ter
NM_001287174.2:c.3736A>T	NP_001274103.1:p.Arg1246Ter
NM_001287174.3:c.3736A>T	NP_001274103.1:p.Arg1246Ter
NM_001351295.1:c.3799A>T	NP_001338224.1:p.Arg1267Ter
NM_001351295.2:c.3799A>T	NP_001338224.1:p.Arg1267Ter
NM_001351296.1:c.3733A>T	NP_001338225.1:p.Arg1245Ter
NM_001351296.2:c.3733A>T	NP_001338225.1:p.Arg1245Ter
NM_001351297.1:c.3730A>T	NP_001338226.1:p.Arg1244Ter
NM_001351297.2:c.3730A>T	NP_001338226.1:p.Arg1244Ter
NR_147094.1:n.3882A>T
NR_147094.2:n.3882A>T
ENST00000302539.8:c.3736A>T	ENSP00000303960.4:p.Arg1246Ter
ENST00000302539.9:c.3736A>T	ENSP00000303960.4:p.Arg1246Ter
ENST00000389817.7:c.3733A>T	ENSP00000374467.3:p.Arg1245Ter
ENST00000524561.2:n.3302A>T
ENST00000527905.5:c.*609A>T	ENSP00000431653.1:n.*609A>T
ENST00000528374.1:c.203A>T
ENST00000528374.2:c.312A>T
ENST00000529967.6:n.2072A>T
ENST00000531137.1:n.152A>T
ENST00000531891.1:c.101A>T
ENST00000532220.2:n.1465A>T
ENST00000642271.1:c.3730A>T	ENSP00000493749.1:p.Arg1244Ter
ENST00000642579.1:c.1817A>T
ENST00000642611.1:n.3687A>T
ENST00000642611.2:n.3802A>T
ENST00000642902.1:c.3515A>T
ENST00000643260.1:c.3733A>T	ENSP00000494450.1:p.Arg1245Ter
ENST00000643562.1:c.*1709A>T	ENSP00000496124.1:n.*1709A>T
ENST00000643925.1:c.1857A>T
ENST00000644057.2:n.176A>T
ENST00000644447.1:c.2184A>T	ENSP00000496282.1:n.2184A>T
ENST00000644484.1:c.*1988A>T	ENSP00000493558.1:n.*1988A>T
ENST00000644675.1:c.*1905A>T	ENSP00000494567.1:n.*1905A>T
ENST00000644757.1:c.*2018A>T	ENSP00000495085.1:n.*2018A>T
ENST00000644772.1:c.3799A>T	ENSP00000494321.1:p.Arg1267Ter
ENST00000645004.1:n.872A>T
ENST00000645004.2:n.1232A>T
ENST00000645076.1:c.2932A>T
ENST00000645417.1:c.921A>T
ENST00000645744.1:c.*1997A>T	ENSP00000494564.1:n.*1997A>T
ENST00000645760.1:c.4008A>T
ENST00000645884.1:c.*870A>T	ENSP00000495516.1:n.*870A>T
ENST00000646003.1:c.*1689A>T	ENSP00000495259.1:n.*1689A>T
ENST00000646207.1:c.*2200A>T	ENSP00000495025.1:n.*2200A>T
ENST00000646276.1:c.*2006A>T	ENSP00000496070.1:n.*2006A>T
ENST00000646592.1:c.3039A>T
ENST00000646902.1:c.3730A>T	ENSP00000494101.1:p.Arg1244Ter
ENST00000646993.1:c.*2129A>T	ENSP00000493720.1:n.*2129A>T
ENST00000647013.1:c.3739A>T	ENSP00000496741.1:n.3739A>T
ENST00000647015.1:c.3484A>T	ENSP00000495389.1:p.Arg1162Ter
ENST00000647086.1:c.*3463A>T	ENSP00000493677.1:n.*3463A>T
ENST00000647158.1:c.*1874A>T	ENSP00000495744.1:n.*1874A>T
ENST00000682051.1:n.3749A>T
ENST00000682110.1:n.3802A>T
ENST00000682140.1:c.3730A>T	ENSP00000507829.1:p.Arg1244Ter
ENST00000682185.1:n.5038A>T
ENST00000682204.1:c.*1871A>T	ENSP00000507094.1:n.*1871A>T
ENST00000682215.1:n.3799A>T
ENST00000682288.1:c.*2164A>T	ENSP00000507506.1:n.*2164A>T
ENST00000682442.1:n.4022A>T
ENST00000682528.1:n.3879A>T
ENST00000682673.1:n.3746A>T
ENST00000682805.1:n.3799A>T
ENST00000682965.1:c.*155A>T	ENSP00000508229.1:n.*155A>T
ENST00000683093.1:n.3901A>T
ENST00000683136.1:c.3730A>T	ENSP00000507768.1:p.Arg1244Ter
ENST00000683153.1:n.3958A>T
ENST00000683365.1:n.3904A>T
ENST00000683377.1:n.3802A>T
ENST00000683456.1:c.*870A>T	ENSP00000508318.1:n.*870A>T
ENST00000683522.1:n.3802A>T
ENST00000683562.1:c.*1902A>T	ENSP00000508265.1:n.*1902A>T
ENST00000683693.1:n.3879A>T
ENST00000683725.1:c.3733A>T	ENSP00000507496.1:p.Arg1245Ter
ENST00000684010.1:n.3797A>T
ENST00000684157.1:n.3802A>T
ENST00000684253.1:n.3705A>T
ENST00000684288.1:c.*1905A>T	ENSP00000507143.1:n.*1905A>T
ENST00000684313.1:n.3234A>T
ENST00000684332.1:n.3875A>T
ENST00000684371.1:n.3908A>T
ENST00000684404.1:n.3845A>T
ENST00000684442.1:n.3802A>T
ENST00000684555.1:c.*1945A>T	ENSP00000507705.1:n.*1945A>T
ENST00000684571.1:c.3574A>T	ENSP00000506935.1:p.Arg1192Ter
ENST00000684593.1:c.*3438A>T	ENSP00000507005.1:n.*3438A>T
ENST00000684711.1:c.*2129A>T	ENSP00000506841.1:n.*2129A>T
XM_011520331.1:c.3733A>T	XP_011518633.1:p.Arg1245Ter
XM_011520332.1:c.3736A>T	XP_011518634.1:p.Arg1246Ter
XM_011520333.1:c.2233A>T	XP_011518635.1:p.Arg745Ter
XM_017018197.2:c.3802A>T	XP_016873686.1:p.Arg1268Ter
XM_017018199.1:c.3799A>T	XP_016873688.1:p.Arg1267Ter
XM_017018201.2:c.3802A>T	XP_016873690.1:p.Arg1268Ter
XM_017018202.1:c.2299A>T	XP_016873691.1:p.Arg767Ter
XM_017018204.1:c.1690A>T	XP_016873693.1:p.Arg564Ter
XM_024448668.1:c.2101A>T	XP_024304436.1:p.Arg701Ter
XR_001747945.2:n.3874A>T
XR_001747946.2:n.3805A>T
XR_002957189.1:n.3954A>T
XR_930890.1:n.3799A>T
XR_930892.1:n.3699A>T
XR_930893.1:n.3696A>T