Canonical Allele Identifier: CA5902801

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 879518
• ClinVar RCV Id: RCV001107095 ; RCV001107094 ; RCV001107096 ; RCV001278394 ; RCV001435820 ; RCV002245860 ; RCV002245859
• dbSNP Id: rs540122589
• ExAC: 11:17426154 G / A
• gnomAD v2: 11-17426154-G-A
• gnomAD v3: 11-17404607-G-A
• gnomAD v4: 11-17404607-G-A
• MyVariant Identifiers: chr11:g.17426154G>A (hg19) ; chr11:g.17404607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404607G>A , CM000673.2:g.17404607G>A	GRCh38
NC_000011.9:g.17426154G>A , CM000673.1:g.17426154G>A	GRCh37
NC_000011.8:g.17382730G>A	NCBI36
NG_008867.1:g.77296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3031C>T
ENST00000528374.2:c.41C>T
ENST00000529967.6:n.1801C>T
ENST00000532220.2:n.1194C>T
ENST00000642611.2:n.3531C>T
ENST00000645004.2:n.961C>T
ENST00000682051.1:n.3478C>T
ENST00000682110.1:n.3531C>T
ENST00000682140.1:c.3459C>T	ENSP00000507829.1:p.Ala1153=
ENST00000682185.1:n.4767C>T
ENST00000682204.1:c.*1600C>T	ENSP00000507094.1:n.*1600C>T
ENST00000682215.1:n.3528C>T
ENST00000682288.1:c.*1893C>T	ENSP00000507506.1:n.*1893C>T
ENST00000682442.1:n.3751C>T
ENST00000682528.1:n.3608C>T
ENST00000682673.1:n.3475C>T
ENST00000682805.1:n.3528C>T
ENST00000682965.1:c.3396+887C>T	ENSP00000508229.1:n.3396+887C>T
ENST00000683093.1:n.3630C>T
ENST00000683136.1:c.3459C>T	ENSP00000507768.1:p.Ala1153=
ENST00000683153.1:n.3687C>T
ENST00000683365.1:n.3633C>T
ENST00000683377.1:n.3531C>T
ENST00000683456.1:c.*599C>T	ENSP00000508318.1:n.*599C>T
ENST00000683522.1:n.3531C>T
ENST00000683562.1:c.*1631C>T	ENSP00000508265.1:n.*1631C>T
ENST00000683693.1:n.3608C>T
ENST00000683725.1:c.3462C>T	ENSP00000507496.1:p.Ala1154=
ENST00000684010.1:n.3526C>T
ENST00000684157.1:n.3531C>T
ENST00000684253.1:n.3434C>T
ENST00000684288.1:c.*1634C>T	ENSP00000507143.1:n.*1634C>T
ENST00000684313.1:n.2963C>T
ENST00000684332.1:n.3604C>T
ENST00000684371.1:n.3637C>T
ENST00000684404.1:n.3574C>T
ENST00000684442.1:n.3531C>T
ENST00000684555.1:c.*1674C>T	ENSP00000507705.1:n.*1674C>T
ENST00000684571.1:c.3303C>T	ENSP00000506935.1:p.Ala1101=
ENST00000684593.1:c.*3167C>T	ENSP00000507005.1:n.*3167C>T
ENST00000684711.1:c.*1858C>T	ENSP00000506841.1:n.*1858C>T
ENST00000302539.9:c.3465C>T	ENSP00000303960.4:p.Ala1155=
ENST00000389817.8:c.3462C>T MANE Select	ENSP00000374467.4:p.Ala1154=
ENST00000642271.1:c.3459C>T	ENSP00000493749.1:p.Ala1153=
ENST00000642579.1:c.1546C>T
ENST00000642611.1:n.3416C>T
ENST00000642902.1:c.3244C>T
ENST00000643260.1:c.3462C>T	ENSP00000494450.1:p.Ala1154=
ENST00000643562.1:c.*1438C>T	ENSP00000496124.1:n.*1438C>T
ENST00000643925.1:c.1586C>T
ENST00000644447.1:c.1818C>T	ENSP00000496282.1:p.Ala606=
ENST00000644484.1:c.*1717C>T	ENSP00000493558.1:n.*1717C>T
ENST00000644675.1:c.*1634C>T	ENSP00000494567.1:n.*1634C>T
ENST00000644757.1:c.*1747C>T	ENSP00000495085.1:n.*1747C>T
ENST00000644772.1:c.3528C>T	ENSP00000494321.1:p.Ala1176=
ENST00000645004.1:n.601C>T
ENST00000645076.1:c.2661C>T
ENST00000645417.1:c.628C>T
ENST00000645744.1:c.*1726C>T	ENSP00000494564.1:n.*1726C>T
ENST00000645760.1:c.3737C>T
ENST00000645884.1:c.*599C>T	ENSP00000495516.1:n.*599C>T
ENST00000646003.1:c.*1418C>T	ENSP00000495259.1:n.*1418C>T
ENST00000646207.1:c.*1929C>T	ENSP00000495025.1:n.*1929C>T
ENST00000646276.1:c.*1735C>T	ENSP00000496070.1:n.*1735C>T
ENST00000646592.1:c.2768C>T
ENST00000646902.1:c.3459C>T	ENSP00000494101.1:p.Ala1153=
ENST00000646993.1:c.*1858C>T	ENSP00000493720.1:n.*1858C>T
ENST00000647013.1:c.3468C>T	ENSP00000496741.1:n.3468C>T
ENST00000647015.1:c.3213C>T	ENSP00000495389.1:p.Ala1071=
ENST00000647086.1:c.*3192C>T	ENSP00000493677.1:n.*3192C>T
ENST00000647158.1:c.*1603C>T	ENSP00000495744.1:n.*1603C>T
ENST00000302539.8:c.3465C>T	ENSP00000303960.4:p.Ala1155=
ENST00000389817.7:c.3462C>T	ENSP00000374467.3:p.Ala1154=
ENST00000524561.1:n.594C>T
ENST00000527905.5:c.*338C>T	ENSP00000431653.1:n.*338C>T
NM_000352.4:c.3462C>T	NP_000343.2:p.Ala1154=
NM_001287174.1:c.3465C>T	NP_001274103.1:p.Ala1155=
XM_011520331.1:c.3462C>T	XP_011518633.1:p.Ala1154=
XM_011520332.1:c.3465C>T	XP_011518634.1:p.Ala1155=
XM_011520333.1:c.1962C>T	XP_011518635.1:p.Ala654=
XR_930890.1:n.3528C>T
XR_930892.1:n.3428C>T
XR_930893.1:n.3425C>T
NM_001351295.1:c.3528C>T	NP_001338224.1:p.Ala1176=
NM_001351296.1:c.3462C>T	NP_001338225.1:p.Ala1154=
NM_001351297.1:c.3459C>T	NP_001338226.1:p.Ala1153=
NR_147094.1:n.3611C>T
XM_017018197.2:c.3531C>T	XP_016873686.1:p.Ala1177=
XM_017018199.1:c.3528C>T	XP_016873688.1:p.Ala1176=
XM_017018201.2:c.3531C>T	XP_016873690.1:p.Ala1177=
XM_017018202.1:c.2028C>T	XP_016873691.1:p.Ala676=
XM_017018204.1:c.1419C>T	XP_016873693.1:p.Ala473=
XM_024448668.1:c.1830C>T	XP_024304436.1:p.Ala610=
XR_001747945.2:n.3603C>T
XR_001747946.2:n.3534C>T
XR_002957189.1:n.3683C>T
NM_000352.6:c.3462C>T MANE Select	NP_000343.2:p.Ala1154=
NM_001287174.2:c.3465C>T	NP_001274103.1:p.Ala1155=
NM_001351295.2:c.3528C>T	NP_001338224.1:p.Ala1176=
NM_001351296.2:c.3462C>T	NP_001338225.1:p.Ala1154=
NM_001351297.2:c.3459C>T	NP_001338226.1:p.Ala1153=
NR_147094.2:n.3611C>T
NM_001287174.3:c.3465C>T	NP_001274103.1:p.Ala1155=