Canonical Allele Identifier: CA5902755

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17402670C>T , CM000673.2:g.17402670C>T	GRCh38
NC_000011.9:g.17424217C>T , CM000673.1:g.17424217C>T	GRCh37
NC_000011.8:g.17380793C>T	NCBI36
NG_008867.1:g.79233G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3641G>A MANE Select	NP_000343.2:p.Arg1214Gln
ENST00000389817.8:c.3641G>A MANE Select	ENSP00000374467.4:p.Arg1214Gln
NM_000352.4:c.3641G>A	NP_000343.2:p.Arg1214Gln
NM_001287174.1:c.3644G>A	NP_001274103.1:p.Arg1215Gln
NM_001287174.2:c.3644G>A	NP_001274103.1:p.Arg1215Gln
NM_001287174.3:c.3644G>A	NP_001274103.1:p.Arg1215Gln
NM_001351295.1:c.3707G>A	NP_001338224.1:p.Arg1236Gln
NM_001351295.2:c.3707G>A	NP_001338224.1:p.Arg1236Gln
NM_001351296.1:c.3641G>A	NP_001338225.1:p.Arg1214Gln
NM_001351296.2:c.3641G>A	NP_001338225.1:p.Arg1214Gln
NM_001351297.1:c.3638G>A	NP_001338226.1:p.Arg1213Gln
NM_001351297.2:c.3638G>A	NP_001338226.1:p.Arg1213Gln
NR_147094.1:n.3790G>A
NR_147094.2:n.3790G>A
ENST00000302539.8:c.3644G>A	ENSP00000303960.4:p.Arg1215Gln
ENST00000302539.9:c.3644G>A	ENSP00000303960.4:p.Arg1215Gln
ENST00000389817.7:c.3641G>A	ENSP00000374467.3:p.Arg1214Gln
ENST00000524561.2:n.3210G>A
ENST00000527905.5:c.*517G>A	ENSP00000431653.1:n.*517G>A
ENST00000528374.1:c.111G>A
ENST00000528374.2:c.220G>A
ENST00000529967.6:n.1980G>A
ENST00000531137.1:n.134G>A
ENST00000531891.1:c.9G>A
ENST00000532220.2:n.1373G>A
ENST00000642271.1:c.3638G>A	ENSP00000493749.1:p.Arg1213Gln
ENST00000642579.1:c.1725G>A
ENST00000642611.1:n.3595G>A
ENST00000642611.2:n.3710G>A
ENST00000642902.1:c.3423G>A
ENST00000643260.1:c.3641G>A	ENSP00000494450.1:p.Arg1214Gln
ENST00000643562.1:c.*1617G>A	ENSP00000496124.1:n.*1617G>A
ENST00000643925.1:c.1765G>A
ENST00000644057.2:n.84G>A
ENST00000644447.1:c.1997G>A	ENSP00000496282.1:p.Arg666Gln
ENST00000644484.1:c.*1896G>A	ENSP00000493558.1:n.*1896G>A
ENST00000644675.1:c.*1813G>A	ENSP00000494567.1:n.*1813G>A
ENST00000644757.1:c.*1926G>A	ENSP00000495085.1:n.*1926G>A
ENST00000644772.1:c.3707G>A	ENSP00000494321.1:p.Arg1236Gln
ENST00000645004.1:n.780G>A
ENST00000645004.2:n.1140G>A
ENST00000645076.1:c.2840G>A
ENST00000645417.1:c.807G>A
ENST00000645744.1:c.*1905G>A	ENSP00000494564.1:n.*1905G>A
ENST00000645760.1:c.3916G>A
ENST00000645884.1:c.*778G>A	ENSP00000495516.1:n.*778G>A
ENST00000646003.1:c.*1597G>A	ENSP00000495259.1:n.*1597G>A
ENST00000646207.1:c.*2108G>A	ENSP00000495025.1:n.*2108G>A
ENST00000646276.1:c.*1914G>A	ENSP00000496070.1:n.*1914G>A
ENST00000646592.1:c.2947G>A
ENST00000646902.1:c.3638G>A	ENSP00000494101.1:p.Arg1213Gln
ENST00000646993.1:c.*2037G>A	ENSP00000493720.1:n.*2037G>A
ENST00000647013.1:c.3647G>A	ENSP00000496741.1:n.3647G>A
ENST00000647015.1:c.3392G>A	ENSP00000495389.1:p.Arg1131Gln
ENST00000647086.1:c.*3371G>A	ENSP00000493677.1:n.*3371G>A
ENST00000647158.1:c.*1782G>A	ENSP00000495744.1:n.*1782G>A
ENST00000682051.1:n.3657G>A
ENST00000682110.1:n.3710G>A
ENST00000682140.1:c.3638G>A	ENSP00000507829.1:p.Arg1213Gln
ENST00000682185.1:n.4946G>A
ENST00000682204.1:c.*1779G>A	ENSP00000507094.1:n.*1779G>A
ENST00000682215.1:n.3707G>A
ENST00000682288.1:c.*2072G>A	ENSP00000507506.1:n.*2072G>A
ENST00000682442.1:n.3930G>A
ENST00000682528.1:n.3787G>A
ENST00000682673.1:n.3654G>A
ENST00000682805.1:n.3707G>A
ENST00000682965.1:c.*63G>A	ENSP00000508229.1:n.*63G>A
ENST00000683093.1:n.3809G>A
ENST00000683136.1:c.3638G>A	ENSP00000507768.1:p.Arg1213Gln
ENST00000683153.1:n.3866G>A
ENST00000683365.1:n.3812G>A
ENST00000683377.1:n.3710G>A
ENST00000683456.1:c.*778G>A	ENSP00000508318.1:n.*778G>A
ENST00000683522.1:n.3710G>A
ENST00000683562.1:c.*1810G>A	ENSP00000508265.1:n.*1810G>A
ENST00000683693.1:n.3787G>A
ENST00000683725.1:c.3641G>A	ENSP00000507496.1:p.Arg1214Gln
ENST00000684010.1:n.3705G>A
ENST00000684157.1:n.3710G>A
ENST00000684253.1:n.3613G>A
ENST00000684288.1:c.*1813G>A	ENSP00000507143.1:n.*1813G>A
ENST00000684313.1:n.3142G>A
ENST00000684332.1:n.3783G>A
ENST00000684371.1:n.3816G>A
ENST00000684404.1:n.3753G>A
ENST00000684442.1:n.3710G>A
ENST00000684555.1:c.*1853G>A	ENSP00000507705.1:n.*1853G>A
ENST00000684571.1:c.3482G>A	ENSP00000506935.1:p.Arg1161Gln
ENST00000684593.1:c.*3346G>A	ENSP00000507005.1:n.*3346G>A
ENST00000684711.1:c.*2037G>A	ENSP00000506841.1:n.*2037G>A
XM_011520331.1:c.3641G>A	XP_011518633.1:p.Arg1214Gln
XM_011520332.1:c.3644G>A	XP_011518634.1:p.Arg1215Gln
XM_011520333.1:c.2141G>A	XP_011518635.1:p.Arg714Gln
XM_017018197.2:c.3710G>A	XP_016873686.1:p.Arg1237Gln
XM_017018199.1:c.3707G>A	XP_016873688.1:p.Arg1236Gln
XM_017018201.2:c.3710G>A	XP_016873690.1:p.Arg1237Gln
XM_017018202.1:c.2207G>A	XP_016873691.1:p.Arg736Gln
XM_017018204.1:c.1598G>A	XP_016873693.1:p.Arg533Gln
XM_024448668.1:c.2009G>A	XP_024304436.1:p.Arg670Gln
XR_001747945.2:n.3782G>A
XR_001747946.2:n.3713G>A
XR_002957189.1:n.3862G>A
XR_930890.1:n.3707G>A
XR_930892.1:n.3607G>A
XR_930893.1:n.3604G>A