Canonical Allele Identifier: CA1955122592

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394374C= , CM000673.2:g.17394374C=	GRCh38
NC_000011.9:g.17415921C= , CM000673.1:g.17415921C=	GRCh37
NC_000011.8:g.17372497C=	NCBI36
NG_008867.1:g.87529G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4038G=
ENST00000526037.6:n.372G=
ENST00000528374.2:c.1028G=
ENST00000529967.6:n.2776G=
ENST00000532220.2:n.3670G=
ENST00000642611.2:n.5770G=
ENST00000644057.2:n.1013G=
ENST00000645004.2:n.1936G=
ENST00000682051.1:n.4599G=
ENST00000682110.1:n.4652G=
ENST00000682140.1:c.*223G=	ENSP00000507829.1:n.*223G=
ENST00000682185.1:n.5742G=
ENST00000682204.1:c.*2575G=	ENSP00000507094.1:n.*2575G=
ENST00000682215.1:n.5019G=
ENST00000682288.1:c.*2868G=	ENSP00000507506.1:n.*2868G=
ENST00000682442.1:n.4872G=
ENST00000682528.1:n.4729G=
ENST00000682673.1:n.4596G=
ENST00000682805.1:n.5057G=
ENST00000682965.1:c.*859G=	ENSP00000508229.1:n.*859G=
ENST00000683093.1:n.5632G=
ENST00000683136.1:c.4320G=	ENSP00000507768.1:p.Glu1440=
ENST00000683153.1:n.4694G=
ENST00000683365.1:n.4754G=
ENST00000683377.1:n.4548G=
ENST00000683456.1:c.*1574G=	ENSP00000508318.1:n.*1574G=
ENST00000683522.1:n.4734G=
ENST00000683562.1:c.*2502G=	ENSP00000508265.1:n.*2502G=
ENST00000683693.1:n.6113G=
ENST00000683725.1:c.4333G=	ENSP00000507496.1:p.Glu1445=
ENST00000684010.1:n.4647G=
ENST00000684014.1:n.624G=
ENST00000684157.1:n.5637G=
ENST00000684253.1:n.4555G=
ENST00000684288.1:c.*2609G=	ENSP00000507143.1:n.*2609G=
ENST00000684313.1:n.4084G=
ENST00000684332.1:n.4725G=
ENST00000684371.1:n.4758G=
ENST00000684404.1:n.5680G=
ENST00000684442.1:n.4876G=
ENST00000684555.1:c.*2649G=	ENSP00000507705.1:n.*2649G=
ENST00000684571.1:c.4278G=	ENSP00000506935.1:p.Glu1426=
ENST00000684593.1:c.*4142G=	ENSP00000507005.1:n.*4142G=
ENST00000684711.1:c.*2833G=	ENSP00000506841.1:n.*2833G=
ENST00000302539.9:c.4440G=	ENSP00000303960.4:p.Glu1480=
ENST00000389817.8:c.4437G= MANE Select	ENSP00000374467.4:p.Glu1479=
ENST00000642271.1:c.4434G=	ENSP00000493749.1:p.Glu1478=
ENST00000642579.1:c.2491G=
ENST00000642611.1:n.5655G=
ENST00000642902.1:c.4219G=
ENST00000643260.1:c.4437G=	ENSP00000494450.1:p.Glu1479=
ENST00000643562.1:c.*2559G=	ENSP00000496124.1:n.*2559G=
ENST00000643925.1:c.3077G=
ENST00000644057.1:n.596G=
ENST00000644484.1:c.*3823G=	ENSP00000493558.1:n.*3823G=
ENST00000644675.1:c.*2609G=	ENSP00000494567.1:n.*2609G=
ENST00000644757.1:c.*3203-1394G=	ENSP00000495085.1:n.*3203-1394G=
ENST00000644772.1:c.4503G=	ENSP00000494321.1:p.Glu1501=
ENST00000645004.1:n.2130G=
ENST00000645076.1:c.3532G=
ENST00000645417.1:c.1625G=
ENST00000645744.1:c.*4122G=	ENSP00000494564.1:n.*4122G=
ENST00000645760.1:c.4858G=
ENST00000645884.1:c.*1720G=	ENSP00000495516.1:n.*1720G=
ENST00000646003.1:c.*2459G=	ENSP00000495259.1:n.*2459G=
ENST00000646207.1:c.*3274G=	ENSP00000495025.1:n.*3274G=
ENST00000646276.1:c.*3841G=	ENSP00000496070.1:n.*3841G=
ENST00000646592.1:c.3743G=
ENST00000646902.1:c.4404G=	ENSP00000494101.1:p.Glu1468=
ENST00000646993.1:c.*2875G=	ENSP00000493720.1:n.*2875G=
ENST00000647013.1:c.4443G=	ENSP00000496741.1:n.4443G=
ENST00000647015.1:c.4188G=	ENSP00000495389.1:p.Glu1396=
ENST00000647086.1:c.*4023G=	ENSP00000493677.1:n.*4023G=
ENST00000647158.1:c.*2724G=	ENSP00000495744.1:n.*2724G=
ENST00000302539.8:c.4440G=	ENSP00000303960.4:p.Glu1480=
ENST00000389817.7:c.4437G=	ENSP00000374467.3:p.Glu1479=
ENST00000525022.1:n.332G=
ENST00000526037.5:n.197G=
ENST00000526168.5:c.225G=
ENST00000531642.5:c.468G=
NM_000352.4:c.4437G=	NP_000343.2:p.Glu1479=
NM_001287174.1:c.4440G=	NP_001274103.1:p.Glu1480=
XM_011520331.1:c.4437G=	XP_011518633.1:p.Glu1479=
XM_011520332.1:c.4336G=	XP_011518634.1:p.Glu1446=
XM_011520333.1:c.2937G=	XP_011518635.1:p.Glu979=
XR_930890.1:n.4399G=
NM_001351295.1:c.4503G=	NP_001338224.1:p.Glu1501=
NM_001351296.1:c.4437G=	NP_001338225.1:p.Glu1479=
NM_001351297.1:c.4434G=	NP_001338226.1:p.Glu1478=
NR_147094.1:n.4732G=
XM_017018197.2:c.4506G=	XP_016873686.1:p.Glu1502=
XM_017018199.1:c.4503G=	XP_016873688.1:p.Glu1501=
XM_017018201.2:c.4402G=	XP_016873690.1:p.Glu1468=
XM_017018202.1:c.3003G=	XP_016873691.1:p.Glu1001=
XM_017018204.1:c.2394G=	XP_016873693.1:p.Glu798=
XM_024448668.1:c.2805G=	XP_024304436.1:p.Glu935=
XR_001747945.2:n.4474G=
XR_001747946.2:n.4405G=
XR_002957189.1:n.6188G=
NM_000352.6:c.4437G= MANE Select	NP_000343.2:p.Glu1479=
NM_001287174.2:c.4440G=	NP_001274103.1:p.Glu1480=
NM_001351295.2:c.4503G=	NP_001338224.1:p.Glu1501=
NM_001351296.2:c.4437G=	NP_001338225.1:p.Glu1479=
NM_001351297.2:c.4434G=	NP_001338226.1:p.Glu1478=
NR_147094.2:n.4732G=
NM_001287174.3:c.4440G=	NP_001274103.1:p.Glu1480=