Canonical Allele Identifier: CA379803071

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428436T>A (hg19) ; chr11:g.17406889T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406889T>A , CM000673.2:g.17406889T>A	GRCh38
NC_000011.9:g.17428436T>A , CM000673.1:g.17428436T>A	GRCh37
NC_000011.8:g.17385012T>A	NCBI36
NG_008867.1:g.75014A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2730A>T
ENST00000529967.6:n.1500A>T
ENST00000532220.2:n.893A>T
ENST00000642611.2:n.3230A>T
ENST00000645004.2:n.660A>T
ENST00000682051.1:n.3177A>T
ENST00000682110.1:n.3230A>T
ENST00000682140.1:c.3158A>T	ENSP00000507829.1:p.Gln1053Leu
ENST00000682185.1:n.4466A>T
ENST00000682204.1:c.*1299A>T	ENSP00000507094.1:n.*1299A>T
ENST00000682215.1:n.3227A>T
ENST00000682288.1:c.*1592A>T	ENSP00000507506.1:n.*1592A>T
ENST00000682442.1:n.3351A>T
ENST00000682528.1:n.3307A>T
ENST00000682673.1:n.3174A>T
ENST00000682805.1:n.3227A>T
ENST00000682965.1:c.3158A>T	ENSP00000508229.1:p.Gln1053Leu
ENST00000683093.1:n.3329A>T
ENST00000683136.1:c.3158A>T	ENSP00000507768.1:p.Gln1053Leu
ENST00000683153.1:n.3386A>T
ENST00000683365.1:n.3332A>T
ENST00000683377.1:n.3230A>T
ENST00000683456.1:c.*298A>T	ENSP00000508318.1:n.*298A>T
ENST00000683522.1:n.3230A>T
ENST00000683562.1:c.*1330A>T	ENSP00000508265.1:n.*1330A>T
ENST00000683693.1:n.3307A>T
ENST00000683725.1:c.3161A>T	ENSP00000507496.1:p.Gln1054Leu
ENST00000684010.1:n.3225A>T
ENST00000684157.1:n.3230A>T
ENST00000684253.1:n.3133A>T
ENST00000684288.1:c.*1333A>T	ENSP00000507143.1:n.*1333A>T
ENST00000684313.1:n.2662A>T
ENST00000684332.1:n.3303A>T
ENST00000684371.1:n.3336A>T
ENST00000684404.1:n.3273A>T
ENST00000684442.1:n.3230A>T
ENST00000684555.1:c.*1373A>T	ENSP00000507705.1:n.*1373A>T
ENST00000684571.1:c.3002A>T	ENSP00000506935.1:p.Gln1001Leu
ENST00000684593.1:c.*2866A>T	ENSP00000507005.1:n.*2866A>T
ENST00000684711.1:c.*1557A>T	ENSP00000506841.1:n.*1557A>T
ENST00000302539.9:c.3164A>T	ENSP00000303960.4:p.Gln1055Leu
ENST00000389817.8:c.3161A>T MANE Select	ENSP00000374467.4:p.Gln1054Leu
ENST00000642271.1:c.3158A>T	ENSP00000493749.1:p.Gln1053Leu
ENST00000642579.1:c.1245A>T
ENST00000642611.1:n.3115A>T
ENST00000642902.1:c.2943A>T
ENST00000643260.1:c.3161A>T	ENSP00000494450.1:p.Gln1054Leu
ENST00000643562.1:c.*1137A>T	ENSP00000496124.1:n.*1137A>T
ENST00000643925.1:c.1285A>T
ENST00000644447.1:c.1517A>T	ENSP00000496282.1:p.Gln506Leu
ENST00000644484.1:c.*1416A>T	ENSP00000493558.1:n.*1416A>T
ENST00000644542.1:c.*2866A>T	ENSP00000495532.1:n.*2866A>T
ENST00000644675.1:c.*1333A>T	ENSP00000494567.1:n.*1333A>T
ENST00000644757.1:c.*1446A>T	ENSP00000495085.1:n.*1446A>T
ENST00000644772.1:c.3227A>T	ENSP00000494321.1:p.Gln1076Leu
ENST00000645004.1:n.300A>T
ENST00000645076.1:c.2360A>T
ENST00000645417.1:c.327A>T
ENST00000645744.1:c.*1425A>T	ENSP00000494564.1:n.*1425A>T
ENST00000645760.1:c.3436A>T
ENST00000645884.1:c.*298A>T	ENSP00000495516.1:n.*298A>T
ENST00000646003.1:c.*1117A>T	ENSP00000495259.1:n.*1117A>T
ENST00000646207.1:c.*1628A>T	ENSP00000495025.1:n.*1628A>T
ENST00000646276.1:c.*1434A>T	ENSP00000496070.1:n.*1434A>T
ENST00000646592.1:c.2467A>T
ENST00000646902.1:c.3158A>T	ENSP00000494101.1:p.Gln1053Leu
ENST00000646993.1:c.*1557A>T	ENSP00000493720.1:n.*1557A>T
ENST00000647013.1:c.3167A>T	ENSP00000496741.1:n.3167A>T
ENST00000647015.1:c.2912A>T	ENSP00000495389.1:p.Gln971Leu
ENST00000647086.1:c.*2891A>T	ENSP00000493677.1:n.*2891A>T
ENST00000647158.1:c.*1302A>T	ENSP00000495744.1:n.*1302A>T
ENST00000302539.8:c.3164A>T	ENSP00000303960.4:p.Gln1055Leu
ENST00000389817.7:c.3161A>T	ENSP00000374467.3:p.Gln1054Leu
ENST00000524561.1:n.293A>T
ENST00000526921.5:n.845A>T
ENST00000527905.5:c.*37A>T	ENSP00000431653.1:n.*37A>T
ENST00000529967.5:n.830A>T
NM_000352.4:c.3161A>T	NP_000343.2:p.Gln1054Leu
NM_001287174.1:c.3164A>T	NP_001274103.1:p.Gln1055Leu
XM_011520331.1:c.3161A>T	XP_011518633.1:p.Gln1054Leu
XM_011520332.1:c.3164A>T	XP_011518634.1:p.Gln1055Leu
XM_011520333.1:c.1661A>T	XP_011518635.1:p.Gln554Leu
XR_930890.1:n.3227A>T
XR_930891.1:n.3227A>T
XR_930892.1:n.3127A>T
XR_930893.1:n.3124A>T
NM_001351295.1:c.3227A>T	NP_001338224.1:p.Gln1076Leu
NM_001351296.1:c.3161A>T	NP_001338225.1:p.Gln1054Leu
NM_001351297.1:c.3158A>T	NP_001338226.1:p.Gln1053Leu
NR_147094.1:n.3310A>T
XM_017018197.2:c.3230A>T	XP_016873686.1:p.Gln1077Leu
XM_017018199.1:c.3227A>T	XP_016873688.1:p.Gln1076Leu
XM_017018201.2:c.3230A>T	XP_016873690.1:p.Gln1077Leu
XM_017018202.1:c.1727A>T	XP_016873691.1:p.Gln576Leu
XM_017018204.1:c.1118A>T	XP_016873693.1:p.Gln373Leu
XM_024448668.1:c.1529A>T	XP_024304436.1:p.Gln510Leu
XR_001747945.2:n.3302A>T
XR_001747946.2:n.3233A>T
XR_002957189.1:n.3382A>T
NM_000352.6:c.3161A>T MANE Select	NP_000343.2:p.Gln1054Leu
NM_001287174.2:c.3164A>T	NP_001274103.1:p.Gln1055Leu
NM_001351295.2:c.3227A>T	NP_001338224.1:p.Gln1076Leu
NM_001351296.2:c.3161A>T	NP_001338225.1:p.Gln1054Leu
NM_001351297.2:c.3158A>T	NP_001338226.1:p.Gln1053Leu
NR_147094.2:n.3310A>T
NM_001287174.3:c.3164A>T	NP_001274103.1:p.Gln1055Leu