Canonical Allele Identifier: CA1955127585

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404573C= , CM000673.2:g.17404573C=	GRCh38
NC_000011.9:g.17426120C= , CM000673.1:g.17426120C=	GRCh37
NC_000011.8:g.17382696C=	NCBI36
NG_008867.1:g.77330G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3065G=
ENST00000528374.2:c.75G=
ENST00000529967.6:n.1835G=
ENST00000532220.2:n.1228G=
ENST00000642611.2:n.3565G=
ENST00000645004.2:n.995G=
ENST00000682051.1:n.3512G=
ENST00000682110.1:n.3565G=
ENST00000682140.1:c.3493G=	ENSP00000507829.1:p.Ala1165=
ENST00000682185.1:n.4801G=
ENST00000682204.1:c.*1634G=	ENSP00000507094.1:n.*1634G=
ENST00000682215.1:n.3562G=
ENST00000682288.1:c.*1927G=	ENSP00000507506.1:n.*1927G=
ENST00000682442.1:n.3785G=
ENST00000682528.1:n.3642G=
ENST00000682673.1:n.3509G=
ENST00000682805.1:n.3562G=
ENST00000682965.1:c.3396+921G=	ENSP00000508229.1:n.3396+921G=
ENST00000683093.1:n.3664G=
ENST00000683136.1:c.3493G=	ENSP00000507768.1:p.Ala1165=
ENST00000683153.1:n.3721G=
ENST00000683365.1:n.3667G=
ENST00000683377.1:n.3565G=
ENST00000683456.1:c.*633G=	ENSP00000508318.1:n.*633G=
ENST00000683522.1:n.3565G=
ENST00000683562.1:c.*1665G=	ENSP00000508265.1:n.*1665G=
ENST00000683693.1:n.3642G=
ENST00000683725.1:c.3496G=	ENSP00000507496.1:p.Ala1166=
ENST00000684010.1:n.3560G=
ENST00000684157.1:n.3565G=
ENST00000684253.1:n.3468G=
ENST00000684288.1:c.*1668G=	ENSP00000507143.1:n.*1668G=
ENST00000684313.1:n.2997G=
ENST00000684332.1:n.3638G=
ENST00000684371.1:n.3671G=
ENST00000684404.1:n.3608G=
ENST00000684442.1:n.3565G=
ENST00000684555.1:c.*1708G=	ENSP00000507705.1:n.*1708G=
ENST00000684571.1:c.3337G=	ENSP00000506935.1:p.Ala1113=
ENST00000684593.1:c.*3201G=	ENSP00000507005.1:n.*3201G=
ENST00000684711.1:c.*1892G=	ENSP00000506841.1:n.*1892G=
ENST00000302539.9:c.3499G=	ENSP00000303960.4:p.Ala1167=
ENST00000389817.8:c.3496G= MANE Select	ENSP00000374467.4:p.Ala1166=
ENST00000642271.1:c.3493G=	ENSP00000493749.1:p.Ala1165=
ENST00000642579.1:c.1580G=
ENST00000642611.1:n.3450G=
ENST00000642902.1:c.3278G=
ENST00000643260.1:c.3496G=	ENSP00000494450.1:p.Ala1166=
ENST00000643562.1:c.*1472G=	ENSP00000496124.1:n.*1472G=
ENST00000643925.1:c.1620G=
ENST00000644447.1:c.1852G=	ENSP00000496282.1:p.Ala618=
ENST00000644484.1:c.*1751G=	ENSP00000493558.1:n.*1751G=
ENST00000644675.1:c.*1668G=	ENSP00000494567.1:n.*1668G=
ENST00000644757.1:c.*1781G=	ENSP00000495085.1:n.*1781G=
ENST00000644772.1:c.3562G=	ENSP00000494321.1:p.Ala1188=
ENST00000645004.1:n.635G=
ENST00000645076.1:c.2695G=
ENST00000645417.1:c.662G=
ENST00000645744.1:c.*1760G=	ENSP00000494564.1:n.*1760G=
ENST00000645760.1:c.3771G=
ENST00000645884.1:c.*633G=	ENSP00000495516.1:n.*633G=
ENST00000646003.1:c.*1452G=	ENSP00000495259.1:n.*1452G=
ENST00000646207.1:c.*1963G=	ENSP00000495025.1:n.*1963G=
ENST00000646276.1:c.*1769G=	ENSP00000496070.1:n.*1769G=
ENST00000646592.1:c.2802G=
ENST00000646902.1:c.3493G=	ENSP00000494101.1:p.Ala1165=
ENST00000646993.1:c.*1892G=	ENSP00000493720.1:n.*1892G=
ENST00000647013.1:c.3502G=	ENSP00000496741.1:n.3502G=
ENST00000647015.1:c.3247G=	ENSP00000495389.1:p.Ala1083=
ENST00000647086.1:c.*3226G=	ENSP00000493677.1:n.*3226G=
ENST00000647158.1:c.*1637G=	ENSP00000495744.1:n.*1637G=
ENST00000302539.8:c.3499G=	ENSP00000303960.4:p.Ala1167=
ENST00000389817.7:c.3496G=	ENSP00000374467.3:p.Ala1166=
ENST00000524561.1:n.628G=
ENST00000527905.5:c.*372G=	ENSP00000431653.1:n.*372G=
NM_000352.4:c.3496G=	NP_000343.2:p.Ala1166=
NM_001287174.1:c.3499G=	NP_001274103.1:p.Ala1167=
XM_011520331.1:c.3496G=	XP_011518633.1:p.Ala1166=
XM_011520332.1:c.3499G=	XP_011518634.1:p.Ala1167=
XM_011520333.1:c.1996G=	XP_011518635.1:p.Ala666=
XR_930890.1:n.3562G=
XR_930892.1:n.3462G=
XR_930893.1:n.3459G=
NM_001351295.1:c.3562G=	NP_001338224.1:p.Ala1188=
NM_001351296.1:c.3496G=	NP_001338225.1:p.Ala1166=
NM_001351297.1:c.3493G=	NP_001338226.1:p.Ala1165=
NR_147094.1:n.3645G=
XM_017018197.2:c.3565G=	XP_016873686.1:p.Ala1189=
XM_017018199.1:c.3562G=	XP_016873688.1:p.Ala1188=
XM_017018201.2:c.3565G=	XP_016873690.1:p.Ala1189=
XM_017018202.1:c.2062G=	XP_016873691.1:p.Ala688=
XM_017018204.1:c.1453G=	XP_016873693.1:p.Ala485=
XM_024448668.1:c.1864G=	XP_024304436.1:p.Ala622=
XR_001747945.2:n.3637G=
XR_001747946.2:n.3568G=
XR_002957189.1:n.3717G=
NM_000352.6:c.3496G= MANE Select	NP_000343.2:p.Ala1166=
NM_001287174.2:c.3499G=	NP_001274103.1:p.Ala1167=
NM_001351295.2:c.3562G=	NP_001338224.1:p.Ala1188=
NM_001351296.2:c.3496G=	NP_001338225.1:p.Ala1166=
NM_001351297.2:c.3493G=	NP_001338226.1:p.Ala1165=
NR_147094.2:n.3645G=
NM_001287174.3:c.3499G=	NP_001274103.1:p.Ala1167=