Canonical Allele Identifier: CA379801306

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428197G>T (hg19) ; chr11:g.17406650G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406650G>T , CM000673.2:g.17406650G>T	GRCh38
NC_000011.9:g.17428197G>T , CM000673.1:g.17428197G>T	GRCh37
NC_000011.8:g.17384773G>T	NCBI36
NG_008867.1:g.75253C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2870C>A
ENST00000529967.6:n.1640C>A
ENST00000532220.2:n.1033C>A
ENST00000642611.2:n.3370C>A
ENST00000645004.2:n.800C>A
ENST00000682051.1:n.3317C>A
ENST00000682110.1:n.3370C>A
ENST00000682140.1:c.3298C>A	ENSP00000507829.1:p.Leu1100Ile
ENST00000682185.1:n.4606C>A
ENST00000682204.1:c.*1439C>A	ENSP00000507094.1:n.*1439C>A
ENST00000682215.1:n.3367C>A
ENST00000682288.1:c.*1732C>A	ENSP00000507506.1:n.*1732C>A
ENST00000682442.1:n.3590C>A
ENST00000682528.1:n.3447C>A
ENST00000682673.1:n.3314C>A
ENST00000682805.1:n.3367C>A
ENST00000682965.1:c.3298C>A	ENSP00000508229.1:p.Leu1100Ile
ENST00000683093.1:n.3469C>A
ENST00000683136.1:c.3298C>A	ENSP00000507768.1:p.Leu1100Ile
ENST00000683153.1:n.3526C>A
ENST00000683365.1:n.3472C>A
ENST00000683377.1:n.3370C>A
ENST00000683456.1:c.*438C>A	ENSP00000508318.1:n.*438C>A
ENST00000683522.1:n.3370C>A
ENST00000683562.1:c.*1470C>A	ENSP00000508265.1:n.*1470C>A
ENST00000683693.1:n.3447C>A
ENST00000683725.1:c.3301C>A	ENSP00000507496.1:p.Leu1101Ile
ENST00000684010.1:n.3365C>A
ENST00000684157.1:n.3370C>A
ENST00000684253.1:n.3273C>A
ENST00000684288.1:c.*1473C>A	ENSP00000507143.1:n.*1473C>A
ENST00000684313.1:n.2802C>A
ENST00000684332.1:n.3443C>A
ENST00000684371.1:n.3476C>A
ENST00000684404.1:n.3413C>A
ENST00000684442.1:n.3370C>A
ENST00000684555.1:c.*1513C>A	ENSP00000507705.1:n.*1513C>A
ENST00000684571.1:c.3142C>A	ENSP00000506935.1:p.Leu1048Ile
ENST00000684593.1:c.*3006C>A	ENSP00000507005.1:n.*3006C>A
ENST00000684711.1:c.*1697C>A	ENSP00000506841.1:n.*1697C>A
ENST00000302539.9:c.3304C>A	ENSP00000303960.4:p.Leu1102Ile
ENST00000389817.8:c.3301C>A MANE Select	ENSP00000374467.4:p.Leu1101Ile
ENST00000642271.1:c.3298C>A	ENSP00000493749.1:p.Leu1100Ile
ENST00000642579.1:c.1385C>A
ENST00000642611.1:n.3255C>A
ENST00000642902.1:c.3083C>A
ENST00000643260.1:c.3301C>A	ENSP00000494450.1:p.Leu1101Ile
ENST00000643562.1:c.*1277C>A	ENSP00000496124.1:n.*1277C>A
ENST00000643925.1:c.1425C>A
ENST00000644447.1:c.1657C>A	ENSP00000496282.1:p.Leu553Ile
ENST00000644484.1:c.*1556C>A	ENSP00000493558.1:n.*1556C>A
ENST00000644542.1:c.*3105C>A	ENSP00000495532.1:n.*3105C>A
ENST00000644675.1:c.*1473C>A	ENSP00000494567.1:n.*1473C>A
ENST00000644757.1:c.*1586C>A	ENSP00000495085.1:n.*1586C>A
ENST00000644772.1:c.3367C>A	ENSP00000494321.1:p.Leu1123Ile
ENST00000645004.1:n.440C>A
ENST00000645076.1:c.2500C>A
ENST00000645417.1:c.467C>A
ENST00000645744.1:c.*1565C>A	ENSP00000494564.1:n.*1565C>A
ENST00000645760.1:c.3576C>A
ENST00000645884.1:c.*438C>A	ENSP00000495516.1:n.*438C>A
ENST00000646003.1:c.*1257C>A	ENSP00000495259.1:n.*1257C>A
ENST00000646207.1:c.*1768C>A	ENSP00000495025.1:n.*1768C>A
ENST00000646276.1:c.*1574C>A	ENSP00000496070.1:n.*1574C>A
ENST00000646592.1:c.2607C>A
ENST00000646902.1:c.3298C>A	ENSP00000494101.1:p.Leu1100Ile
ENST00000646993.1:c.*1697C>A	ENSP00000493720.1:n.*1697C>A
ENST00000647013.1:c.3307C>A	ENSP00000496741.1:n.3307C>A
ENST00000647015.1:c.3052C>A	ENSP00000495389.1:p.Leu1018Ile
ENST00000647086.1:c.*3031C>A	ENSP00000493677.1:n.*3031C>A
ENST00000647158.1:c.*1442C>A	ENSP00000495744.1:n.*1442C>A
ENST00000302539.8:c.3304C>A	ENSP00000303960.4:p.Leu1102Ile
ENST00000389817.7:c.3301C>A	ENSP00000374467.3:p.Leu1101Ile
ENST00000524561.1:n.433C>A
ENST00000527905.5:c.*177C>A	ENSP00000431653.1:n.*177C>A
NM_000352.4:c.3301C>A	NP_000343.2:p.Leu1101Ile
NM_001287174.1:c.3304C>A	NP_001274103.1:p.Leu1102Ile
XM_011520331.1:c.3301C>A	XP_011518633.1:p.Leu1101Ile
XM_011520332.1:c.3304C>A	XP_011518634.1:p.Leu1102Ile
XM_011520333.1:c.1801C>A	XP_011518635.1:p.Leu601Ile
XR_930890.1:n.3367C>A
XR_930891.1:n.3367C>A
XR_930892.1:n.3267C>A
XR_930893.1:n.3264C>A
NM_001351295.1:c.3367C>A	NP_001338224.1:p.Leu1123Ile
NM_001351296.1:c.3301C>A	NP_001338225.1:p.Leu1101Ile
NM_001351297.1:c.3298C>A	NP_001338226.1:p.Leu1100Ile
NR_147094.1:n.3450C>A
XM_017018197.2:c.3370C>A	XP_016873686.1:p.Leu1124Ile
XM_017018199.1:c.3367C>A	XP_016873688.1:p.Leu1123Ile
XM_017018201.2:c.3370C>A	XP_016873690.1:p.Leu1124Ile
XM_017018202.1:c.1867C>A	XP_016873691.1:p.Leu623Ile
XM_017018204.1:c.1258C>A	XP_016873693.1:p.Leu420Ile
XM_024448668.1:c.1669C>A	XP_024304436.1:p.Leu557Ile
XR_001747945.2:n.3442C>A
XR_001747946.2:n.3373C>A
XR_002957189.1:n.3522C>A
NM_000352.6:c.3301C>A MANE Select	NP_000343.2:p.Leu1101Ile
NM_001287174.2:c.3304C>A	NP_001274103.1:p.Leu1102Ile
NM_001351295.2:c.3367C>A	NP_001338224.1:p.Leu1123Ile
NM_001351296.2:c.3301C>A	NP_001338225.1:p.Leu1101Ile
NM_001351297.2:c.3298C>A	NP_001338226.1:p.Leu1100Ile
NR_147094.2:n.3450C>A
NM_001287174.3:c.3304C>A	NP_001274103.1:p.Leu1102Ile