Canonical Allele Identifier: CA1955123240

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395658C= , CM000673.2:g.17395658C=	GRCh38
NC_000011.9:g.17417205C= , CM000673.1:g.17417205C=	GRCh37
NC_000011.8:g.17373781C=	NCBI36
NG_008867.1:g.86245G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3860G=
ENST00000528374.2:c.850G=
ENST00000529967.6:n.2598G=
ENST00000532220.2:n.3492G=
ENST00000642611.2:n.5592G=
ENST00000644057.2:n.835G=
ENST00000645004.2:n.1758G=
ENST00000682051.1:n.4421G=
ENST00000682110.1:n.4474G=
ENST00000682140.1:c.*45G=	ENSP00000507829.1:n.*45G=
ENST00000682185.1:n.5564G=
ENST00000682204.1:c.*2397G=	ENSP00000507094.1:n.*2397G=
ENST00000682215.1:n.4841G=
ENST00000682288.1:c.*2690G=	ENSP00000507506.1:n.*2690G=
ENST00000682442.1:n.4694G=
ENST00000682528.1:n.4551G=
ENST00000682673.1:n.4418G=
ENST00000682805.1:n.4879G=
ENST00000682965.1:c.*681G=	ENSP00000508229.1:n.*681G=
ENST00000683093.1:n.5558G=
ENST00000683136.1:c.4142G=	ENSP00000507768.1:p.Arg1381=
ENST00000683153.1:n.4516G=
ENST00000683365.1:n.4576G=
ENST00000683377.1:n.4474G=
ENST00000683456.1:c.*1396G=	ENSP00000508318.1:n.*1396G=
ENST00000683522.1:n.4474G=
ENST00000683562.1:c.*2428G=	ENSP00000508265.1:n.*2428G=
ENST00000683693.1:n.6039G=
ENST00000683725.1:c.4259G=	ENSP00000507496.1:p.Arg1420=
ENST00000684010.1:n.4469G=
ENST00000684157.1:n.5459G=
ENST00000684253.1:n.4377G=
ENST00000684288.1:c.*2431G=	ENSP00000507143.1:n.*2431G=
ENST00000684313.1:n.3906G=
ENST00000684332.1:n.4547G=
ENST00000684371.1:n.4580G=
ENST00000684404.1:n.5502G=
ENST00000684442.1:n.4698G=
ENST00000684555.1:c.*2471G=	ENSP00000507705.1:n.*2471G=
ENST00000684571.1:c.4100G=	ENSP00000506935.1:p.Arg1367=
ENST00000684593.1:c.*3964G=	ENSP00000507005.1:n.*3964G=
ENST00000684711.1:c.*2655G=	ENSP00000506841.1:n.*2655G=
ENST00000302539.9:c.4262G=	ENSP00000303960.4:p.Arg1421=
ENST00000389817.8:c.4259G= MANE Select	ENSP00000374467.4:p.Arg1420=
ENST00000642271.1:c.4256G=	ENSP00000493749.1:p.Arg1419=
ENST00000642579.1:c.2313G=
ENST00000642611.1:n.5477G=
ENST00000642902.1:c.4041G=
ENST00000643260.1:c.4259G=	ENSP00000494450.1:p.Arg1420=
ENST00000643562.1:c.*2381G=	ENSP00000496124.1:n.*2381G=
ENST00000643925.1:c.2899G=
ENST00000644057.1:n.336G=
ENST00000644484.1:c.*3645G=	ENSP00000493558.1:n.*3645G=
ENST00000644675.1:c.*2431G=	ENSP00000494567.1:n.*2431G=
ENST00000644757.1:c.*3202+606G=	ENSP00000495085.1:n.*3202+606G=
ENST00000644772.1:c.4325G=	ENSP00000494321.1:p.Arg1442=
ENST00000645004.1:n.1952G=
ENST00000645076.1:c.3458G=
ENST00000645417.1:c.1447G=
ENST00000645744.1:c.*3964-20G=	ENSP00000494564.1:n.*3964-20G=
ENST00000645760.1:c.4680G=
ENST00000645884.1:c.*1542G=	ENSP00000495516.1:n.*1542G=
ENST00000646003.1:c.*2301-20G=	ENSP00000495259.1:n.*2301-20G=
ENST00000646207.1:c.*3096G=	ENSP00000495025.1:n.*3096G=
ENST00000646276.1:c.*3663G=	ENSP00000496070.1:n.*3663G=
ENST00000646592.1:c.3565G=
ENST00000646902.1:c.4226G=	ENSP00000494101.1:p.Arg1409=
ENST00000646993.1:c.*2801G=	ENSP00000493720.1:n.*2801G=
ENST00000647013.1:c.4265G=	ENSP00000496741.1:n.4265G=
ENST00000647015.1:c.4010G=	ENSP00000495389.1:p.Arg1337=
ENST00000647086.1:c.*3845G=	ENSP00000493677.1:n.*3845G=
ENST00000647158.1:c.*2546G=	ENSP00000495744.1:n.*2546G=
ENST00000302539.8:c.4262G=	ENSP00000303960.4:p.Arg1421=
ENST00000389817.7:c.4259G=	ENSP00000374467.3:p.Arg1420=
ENST00000525022.1:n.258G=
ENST00000526037.5:n.123G=
ENST00000526168.5:c.67-20G=
ENST00000531642.5:c.95G=
NM_000352.4:c.4259G=	NP_000343.2:p.Arg1420=
NM_001287174.1:c.4262G=	NP_001274103.1:p.Arg1421=
XM_011520331.1:c.4259G=	XP_011518633.1:p.Arg1420=
XM_011520332.1:c.4262G=	XP_011518634.1:p.Arg1421=
XM_011520333.1:c.2759G=	XP_011518635.1:p.Arg920=
XR_930890.1:n.4325G=
NM_001351295.1:c.4325G=	NP_001338224.1:p.Arg1442=
NM_001351296.1:c.4259G=	NP_001338225.1:p.Arg1420=
NM_001351297.1:c.4256G=	NP_001338226.1:p.Arg1419=
NR_147094.1:n.4554G=
XM_017018197.2:c.4328G=	XP_016873686.1:p.Arg1443=
XM_017018199.1:c.4325G=	XP_016873688.1:p.Arg1442=
XM_017018201.2:c.4328G=	XP_016873690.1:p.Arg1443=
XM_017018202.1:c.2825G=	XP_016873691.1:p.Arg942=
XM_017018204.1:c.2216G=	XP_016873693.1:p.Arg739=
XM_024448668.1:c.2627G=	XP_024304436.1:p.Arg876=
XR_001747945.2:n.4400G=
XR_001747946.2:n.4331G=
XR_002957189.1:n.6114G=
NM_000352.6:c.4259G= MANE Select	NP_000343.2:p.Arg1420=
NM_001287174.2:c.4262G=	NP_001274103.1:p.Arg1421=
NM_001351295.2:c.4325G=	NP_001338224.1:p.Arg1442=
NM_001351296.2:c.4259G=	NP_001338225.1:p.Arg1420=
NM_001351297.2:c.4256G=	NP_001338226.1:p.Arg1419=
NR_147094.2:n.4554G=
NM_001287174.3:c.4262G=	NP_001274103.1:p.Arg1421=