Canonical Allele Identifier: CA379801095

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428175G>A (hg19) ; chr11:g.17406628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406628G>A , CM000673.2:g.17406628G>A	GRCh38
NC_000011.9:g.17428175G>A , CM000673.1:g.17428175G>A	GRCh37
NC_000011.8:g.17384751G>A	NCBI36
NG_008867.1:g.75275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2892C>T
ENST00000529967.6:n.1662C>T
ENST00000532220.2:n.1055C>T
ENST00000642611.2:n.3392C>T
ENST00000645004.2:n.822C>T
ENST00000682051.1:n.3339C>T
ENST00000682110.1:n.3392C>T
ENST00000682140.1:c.3320C>T	ENSP00000507829.1:p.Pro1107Leu
ENST00000682185.1:n.4628C>T
ENST00000682204.1:c.*1461C>T	ENSP00000507094.1:n.*1461C>T
ENST00000682215.1:n.3389C>T
ENST00000682288.1:c.*1754C>T	ENSP00000507506.1:n.*1754C>T
ENST00000682442.1:n.3612C>T
ENST00000682528.1:n.3469C>T
ENST00000682673.1:n.3336C>T
ENST00000682805.1:n.3389C>T
ENST00000682965.1:c.3320C>T	ENSP00000508229.1:p.Pro1107Leu
ENST00000683093.1:n.3491C>T
ENST00000683136.1:c.3320C>T	ENSP00000507768.1:p.Pro1107Leu
ENST00000683153.1:n.3548C>T
ENST00000683365.1:n.3494C>T
ENST00000683377.1:n.3392C>T
ENST00000683456.1:c.*460C>T	ENSP00000508318.1:n.*460C>T
ENST00000683522.1:n.3392C>T
ENST00000683562.1:c.*1492C>T	ENSP00000508265.1:n.*1492C>T
ENST00000683693.1:n.3469C>T
ENST00000683725.1:c.3323C>T	ENSP00000507496.1:p.Pro1108Leu
ENST00000684010.1:n.3387C>T
ENST00000684157.1:n.3392C>T
ENST00000684253.1:n.3295C>T
ENST00000684288.1:c.*1495C>T	ENSP00000507143.1:n.*1495C>T
ENST00000684313.1:n.2824C>T
ENST00000684332.1:n.3465C>T
ENST00000684371.1:n.3498C>T
ENST00000684404.1:n.3435C>T
ENST00000684442.1:n.3392C>T
ENST00000684555.1:c.*1535C>T	ENSP00000507705.1:n.*1535C>T
ENST00000684571.1:c.3164C>T	ENSP00000506935.1:p.Pro1055Leu
ENST00000684593.1:c.*3028C>T	ENSP00000507005.1:n.*3028C>T
ENST00000684711.1:c.*1719C>T	ENSP00000506841.1:n.*1719C>T
ENST00000302539.9:c.3326C>T	ENSP00000303960.4:p.Pro1109Leu
ENST00000389817.8:c.3323C>T MANE Select	ENSP00000374467.4:p.Pro1108Leu
ENST00000642271.1:c.3320C>T	ENSP00000493749.1:p.Pro1107Leu
ENST00000642579.1:c.1407C>T
ENST00000642611.1:n.3277C>T
ENST00000642902.1:c.3105C>T
ENST00000643260.1:c.3323C>T	ENSP00000494450.1:p.Pro1108Leu
ENST00000643562.1:c.*1299C>T	ENSP00000496124.1:n.*1299C>T
ENST00000643925.1:c.1447C>T
ENST00000644447.1:c.1679C>T	ENSP00000496282.1:p.Pro560Leu
ENST00000644484.1:c.*1578C>T	ENSP00000493558.1:n.*1578C>T
ENST00000644542.1:c.*3127C>T	ENSP00000495532.1:n.*3127C>T
ENST00000644675.1:c.*1495C>T	ENSP00000494567.1:n.*1495C>T
ENST00000644757.1:c.*1608C>T	ENSP00000495085.1:n.*1608C>T
ENST00000644772.1:c.3389C>T	ENSP00000494321.1:p.Pro1130Leu
ENST00000645004.1:n.462C>T
ENST00000645076.1:c.2522C>T
ENST00000645417.1:c.489C>T
ENST00000645744.1:c.*1587C>T	ENSP00000494564.1:n.*1587C>T
ENST00000645760.1:c.3598C>T
ENST00000645884.1:c.*460C>T	ENSP00000495516.1:n.*460C>T
ENST00000646003.1:c.*1279C>T	ENSP00000495259.1:n.*1279C>T
ENST00000646207.1:c.*1790C>T	ENSP00000495025.1:n.*1790C>T
ENST00000646276.1:c.*1596C>T	ENSP00000496070.1:n.*1596C>T
ENST00000646592.1:c.2629C>T
ENST00000646902.1:c.3320C>T	ENSP00000494101.1:p.Pro1107Leu
ENST00000646993.1:c.*1719C>T	ENSP00000493720.1:n.*1719C>T
ENST00000647013.1:c.3329C>T	ENSP00000496741.1:n.3329C>T
ENST00000647015.1:c.3074C>T	ENSP00000495389.1:p.Pro1025Leu
ENST00000647086.1:c.*3053C>T	ENSP00000493677.1:n.*3053C>T
ENST00000647158.1:c.*1464C>T	ENSP00000495744.1:n.*1464C>T
ENST00000302539.8:c.3326C>T	ENSP00000303960.4:p.Pro1109Leu
ENST00000389817.7:c.3323C>T	ENSP00000374467.3:p.Pro1108Leu
ENST00000524561.1:n.455C>T
ENST00000527905.5:c.*199C>T	ENSP00000431653.1:n.*199C>T
NM_000352.4:c.3323C>T	NP_000343.2:p.Pro1108Leu
NM_001287174.1:c.3326C>T	NP_001274103.1:p.Pro1109Leu
XM_011520331.1:c.3323C>T	XP_011518633.1:p.Pro1108Leu
XM_011520332.1:c.3326C>T	XP_011518634.1:p.Pro1109Leu
XM_011520333.1:c.1823C>T	XP_011518635.1:p.Pro608Leu
XR_930890.1:n.3389C>T
XR_930891.1:n.3389C>T
XR_930892.1:n.3289C>T
XR_930893.1:n.3286C>T
NM_001351295.1:c.3389C>T	NP_001338224.1:p.Pro1130Leu
NM_001351296.1:c.3323C>T	NP_001338225.1:p.Pro1108Leu
NM_001351297.1:c.3320C>T	NP_001338226.1:p.Pro1107Leu
NR_147094.1:n.3472C>T
XM_017018197.2:c.3392C>T	XP_016873686.1:p.Pro1131Leu
XM_017018199.1:c.3389C>T	XP_016873688.1:p.Pro1130Leu
XM_017018201.2:c.3392C>T	XP_016873690.1:p.Pro1131Leu
XM_017018202.1:c.1889C>T	XP_016873691.1:p.Pro630Leu
XM_017018204.1:c.1280C>T	XP_016873693.1:p.Pro427Leu
XM_024448668.1:c.1691C>T	XP_024304436.1:p.Pro564Leu
XR_001747945.2:n.3464C>T
XR_001747946.2:n.3395C>T
XR_002957189.1:n.3544C>T
NM_000352.6:c.3323C>T MANE Select	NP_000343.2:p.Pro1108Leu
NM_001287174.2:c.3326C>T	NP_001274103.1:p.Pro1109Leu
NM_001351295.2:c.3389C>T	NP_001338224.1:p.Pro1130Leu
NM_001351296.2:c.3323C>T	NP_001338225.1:p.Pro1108Leu
NM_001351297.2:c.3320C>T	NP_001338226.1:p.Pro1107Leu
NR_147094.2:n.3472C>T
NM_001287174.3:c.3326C>T	NP_001274103.1:p.Pro1109Leu