Canonical Allele Identifier: CA473300212

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428174G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406627G>T , CM000673.2:g.17406627G>T	GRCh38
NC_000011.9:g.17428174G>T , CM000673.1:g.17428174G>T	GRCh37
NC_000011.8:g.17384750G>T	NCBI36
NG_008867.1:g.75276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2893C>A
ENST00000529967.6:n.1663C>A
ENST00000532220.2:n.1056C>A
ENST00000642611.2:n.3393C>A
ENST00000645004.2:n.823C>A
ENST00000682051.1:n.3340C>A
ENST00000682110.1:n.3393C>A
ENST00000682140.1:c.3321C>A	ENSP00000507829.1:p.Pro1107=
ENST00000682185.1:n.4629C>A
ENST00000682204.1:c.*1462C>A	ENSP00000507094.1:n.*1462C>A
ENST00000682215.1:n.3390C>A
ENST00000682288.1:c.*1755C>A	ENSP00000507506.1:n.*1755C>A
ENST00000682442.1:n.3613C>A
ENST00000682528.1:n.3470C>A
ENST00000682673.1:n.3337C>A
ENST00000682805.1:n.3390C>A
ENST00000682965.1:c.3321C>A	ENSP00000508229.1:p.Pro1107=
ENST00000683093.1:n.3492C>A
ENST00000683136.1:c.3321C>A	ENSP00000507768.1:p.Pro1107=
ENST00000683153.1:n.3549C>A
ENST00000683365.1:n.3495C>A
ENST00000683377.1:n.3393C>A
ENST00000683456.1:c.*461C>A	ENSP00000508318.1:n.*461C>A
ENST00000683522.1:n.3393C>A
ENST00000683562.1:c.*1493C>A	ENSP00000508265.1:n.*1493C>A
ENST00000683693.1:n.3470C>A
ENST00000683725.1:c.3324C>A	ENSP00000507496.1:p.Pro1108=
ENST00000684010.1:n.3388C>A
ENST00000684157.1:n.3393C>A
ENST00000684253.1:n.3296C>A
ENST00000684288.1:c.*1496C>A	ENSP00000507143.1:n.*1496C>A
ENST00000684313.1:n.2825C>A
ENST00000684332.1:n.3466C>A
ENST00000684371.1:n.3499C>A
ENST00000684404.1:n.3436C>A
ENST00000684442.1:n.3393C>A
ENST00000684555.1:c.*1536C>A	ENSP00000507705.1:n.*1536C>A
ENST00000684571.1:c.3165C>A	ENSP00000506935.1:p.Pro1055=
ENST00000684593.1:c.*3029C>A	ENSP00000507005.1:n.*3029C>A
ENST00000684711.1:c.*1720C>A	ENSP00000506841.1:n.*1720C>A
ENST00000302539.9:c.3327C>A	ENSP00000303960.4:p.Pro1109=
ENST00000389817.8:c.3324C>A MANE Select	ENSP00000374467.4:p.Pro1108=
ENST00000642271.1:c.3321C>A	ENSP00000493749.1:p.Pro1107=
ENST00000642579.1:c.1408C>A
ENST00000642611.1:n.3278C>A
ENST00000642902.1:c.3106C>A
ENST00000643260.1:c.3324C>A	ENSP00000494450.1:p.Pro1108=
ENST00000643562.1:c.*1300C>A	ENSP00000496124.1:n.*1300C>A
ENST00000643925.1:c.1448C>A
ENST00000644447.1:c.1680C>A	ENSP00000496282.1:p.Pro560=
ENST00000644484.1:c.*1579C>A	ENSP00000493558.1:n.*1579C>A
ENST00000644542.1:c.*3128C>A	ENSP00000495532.1:n.*3128C>A
ENST00000644675.1:c.*1496C>A	ENSP00000494567.1:n.*1496C>A
ENST00000644757.1:c.*1609C>A	ENSP00000495085.1:n.*1609C>A
ENST00000644772.1:c.3390C>A	ENSP00000494321.1:p.Pro1130=
ENST00000645004.1:n.463C>A
ENST00000645076.1:c.2523C>A
ENST00000645417.1:c.490C>A
ENST00000645744.1:c.*1588C>A	ENSP00000494564.1:n.*1588C>A
ENST00000645760.1:c.3599C>A
ENST00000645884.1:c.*461C>A	ENSP00000495516.1:n.*461C>A
ENST00000646003.1:c.*1280C>A	ENSP00000495259.1:n.*1280C>A
ENST00000646207.1:c.*1791C>A	ENSP00000495025.1:n.*1791C>A
ENST00000646276.1:c.*1597C>A	ENSP00000496070.1:n.*1597C>A
ENST00000646592.1:c.2630C>A
ENST00000646902.1:c.3321C>A	ENSP00000494101.1:p.Pro1107=
ENST00000646993.1:c.*1720C>A	ENSP00000493720.1:n.*1720C>A
ENST00000647013.1:c.3330C>A	ENSP00000496741.1:n.3330C>A
ENST00000647015.1:c.3075C>A	ENSP00000495389.1:p.Pro1025=
ENST00000647086.1:c.*3054C>A	ENSP00000493677.1:n.*3054C>A
ENST00000647158.1:c.*1465C>A	ENSP00000495744.1:n.*1465C>A
ENST00000302539.8:c.3327C>A	ENSP00000303960.4:p.Pro1109=
ENST00000389817.7:c.3324C>A	ENSP00000374467.3:p.Pro1108=
ENST00000524561.1:n.456C>A
ENST00000527905.5:c.*200C>A	ENSP00000431653.1:n.*200C>A
NM_000352.4:c.3324C>A	NP_000343.2:p.Pro1108=
NM_001287174.1:c.3327C>A	NP_001274103.1:p.Pro1109=
XM_011520331.1:c.3324C>A	XP_011518633.1:p.Pro1108=
XM_011520332.1:c.3327C>A	XP_011518634.1:p.Pro1109=
XM_011520333.1:c.1824C>A	XP_011518635.1:p.Pro608=
XR_930890.1:n.3390C>A
XR_930891.1:n.3390C>A
XR_930892.1:n.3290C>A
XR_930893.1:n.3287C>A
NM_001351295.1:c.3390C>A	NP_001338224.1:p.Pro1130=
NM_001351296.1:c.3324C>A	NP_001338225.1:p.Pro1108=
NM_001351297.1:c.3321C>A	NP_001338226.1:p.Pro1107=
NR_147094.1:n.3473C>A
XM_017018197.2:c.3393C>A	XP_016873686.1:p.Pro1131=
XM_017018199.1:c.3390C>A	XP_016873688.1:p.Pro1130=
XM_017018201.2:c.3393C>A	XP_016873690.1:p.Pro1131=
XM_017018202.1:c.1890C>A	XP_016873691.1:p.Pro630=
XM_017018204.1:c.1281C>A	XP_016873693.1:p.Pro427=
XM_024448668.1:c.1692C>A	XP_024304436.1:p.Pro564=
XR_001747945.2:n.3465C>A
XR_001747946.2:n.3396C>A
XR_002957189.1:n.3545C>A
NM_000352.6:c.3324C>A MANE Select	NP_000343.2:p.Pro1108=
NM_001287174.2:c.3327C>A	NP_001274103.1:p.Pro1109=
NM_001351295.2:c.3390C>A	NP_001338224.1:p.Pro1130=
NM_001351296.2:c.3324C>A	NP_001338225.1:p.Pro1108=
NM_001351297.2:c.3321C>A	NP_001338226.1:p.Pro1107=
NR_147094.2:n.3473C>A
NM_001287174.3:c.3327C>A	NP_001274103.1:p.Pro1109=