Canonical Allele Identifier: CA379801046

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428170T>A (hg19) ; chr11:g.17406623T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406623T>A , CM000673.2:g.17406623T>A	GRCh38
NC_000011.9:g.17428170T>A , CM000673.1:g.17428170T>A	GRCh37
NC_000011.8:g.17384746T>A	NCBI36
NG_008867.1:g.75280A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2897A>T
ENST00000529967.6:n.1667A>T
ENST00000532220.2:n.1060A>T
ENST00000642611.2:n.3397A>T
ENST00000645004.2:n.827A>T
ENST00000682051.1:n.3344A>T
ENST00000682110.1:n.3397A>T
ENST00000682140.1:c.3325A>T	ENSP00000507829.1:p.Arg1109Trp
ENST00000682185.1:n.4633A>T
ENST00000682204.1:c.*1466A>T	ENSP00000507094.1:n.*1466A>T
ENST00000682215.1:n.3394A>T
ENST00000682288.1:c.*1759A>T	ENSP00000507506.1:n.*1759A>T
ENST00000682442.1:n.3617A>T
ENST00000682528.1:n.3474A>T
ENST00000682673.1:n.3341A>T
ENST00000682805.1:n.3394A>T
ENST00000682965.1:c.3325A>T	ENSP00000508229.1:p.Arg1109Trp
ENST00000683093.1:n.3496A>T
ENST00000683136.1:c.3325A>T	ENSP00000507768.1:p.Arg1109Trp
ENST00000683153.1:n.3553A>T
ENST00000683365.1:n.3499A>T
ENST00000683377.1:n.3397A>T
ENST00000683456.1:c.*465A>T	ENSP00000508318.1:n.*465A>T
ENST00000683522.1:n.3397A>T
ENST00000683562.1:c.*1497A>T	ENSP00000508265.1:n.*1497A>T
ENST00000683693.1:n.3474A>T
ENST00000683725.1:c.3328A>T	ENSP00000507496.1:p.Arg1110Trp
ENST00000684010.1:n.3392A>T
ENST00000684157.1:n.3397A>T
ENST00000684253.1:n.3300A>T
ENST00000684288.1:c.*1500A>T	ENSP00000507143.1:n.*1500A>T
ENST00000684313.1:n.2829A>T
ENST00000684332.1:n.3470A>T
ENST00000684371.1:n.3503A>T
ENST00000684404.1:n.3440A>T
ENST00000684442.1:n.3397A>T
ENST00000684555.1:c.*1540A>T	ENSP00000507705.1:n.*1540A>T
ENST00000684571.1:c.3169A>T	ENSP00000506935.1:p.Arg1057Trp
ENST00000684593.1:c.*3033A>T	ENSP00000507005.1:n.*3033A>T
ENST00000684711.1:c.*1724A>T	ENSP00000506841.1:n.*1724A>T
ENST00000302539.9:c.3331A>T	ENSP00000303960.4:p.Arg1111Trp
ENST00000389817.8:c.3328A>T MANE Select	ENSP00000374467.4:p.Arg1110Trp
ENST00000642271.1:c.3325A>T	ENSP00000493749.1:p.Arg1109Trp
ENST00000642579.1:c.1412A>T
ENST00000642611.1:n.3282A>T
ENST00000642902.1:c.3110A>T
ENST00000643260.1:c.3328A>T	ENSP00000494450.1:p.Arg1110Trp
ENST00000643562.1:c.*1304A>T	ENSP00000496124.1:n.*1304A>T
ENST00000643925.1:c.1452A>T
ENST00000644447.1:c.1684A>T	ENSP00000496282.1:p.Arg562Trp
ENST00000644484.1:c.*1583A>T	ENSP00000493558.1:n.*1583A>T
ENST00000644542.1:c.*3132A>T	ENSP00000495532.1:n.*3132A>T
ENST00000644675.1:c.*1500A>T	ENSP00000494567.1:n.*1500A>T
ENST00000644757.1:c.*1613A>T	ENSP00000495085.1:n.*1613A>T
ENST00000644772.1:c.3394A>T	ENSP00000494321.1:p.Arg1132Trp
ENST00000645004.1:n.467A>T
ENST00000645076.1:c.2527A>T
ENST00000645417.1:c.494A>T
ENST00000645744.1:c.*1592A>T	ENSP00000494564.1:n.*1592A>T
ENST00000645760.1:c.3603A>T
ENST00000645884.1:c.*465A>T	ENSP00000495516.1:n.*465A>T
ENST00000646003.1:c.*1284A>T	ENSP00000495259.1:n.*1284A>T
ENST00000646207.1:c.*1795A>T	ENSP00000495025.1:n.*1795A>T
ENST00000646276.1:c.*1601A>T	ENSP00000496070.1:n.*1601A>T
ENST00000646592.1:c.2634A>T
ENST00000646902.1:c.3325A>T	ENSP00000494101.1:p.Arg1109Trp
ENST00000646993.1:c.*1724A>T	ENSP00000493720.1:n.*1724A>T
ENST00000647013.1:c.3334A>T	ENSP00000496741.1:n.3334A>T
ENST00000647015.1:c.3079A>T	ENSP00000495389.1:p.Arg1027Trp
ENST00000647086.1:c.*3058A>T	ENSP00000493677.1:n.*3058A>T
ENST00000647158.1:c.*1469A>T	ENSP00000495744.1:n.*1469A>T
ENST00000302539.8:c.3331A>T	ENSP00000303960.4:p.Arg1111Trp
ENST00000389817.7:c.3328A>T	ENSP00000374467.3:p.Arg1110Trp
ENST00000524561.1:n.460A>T
ENST00000527905.5:c.*204A>T	ENSP00000431653.1:n.*204A>T
NM_000352.4:c.3328A>T	NP_000343.2:p.Arg1110Trp
NM_001287174.1:c.3331A>T	NP_001274103.1:p.Arg1111Trp
XM_011520331.1:c.3328A>T	XP_011518633.1:p.Arg1110Trp
XM_011520332.1:c.3331A>T	XP_011518634.1:p.Arg1111Trp
XM_011520333.1:c.1828A>T	XP_011518635.1:p.Arg610Trp
XR_930890.1:n.3394A>T
XR_930891.1:n.3394A>T
XR_930892.1:n.3294A>T
XR_930893.1:n.3291A>T
NM_001351295.1:c.3394A>T	NP_001338224.1:p.Arg1132Trp
NM_001351296.1:c.3328A>T	NP_001338225.1:p.Arg1110Trp
NM_001351297.1:c.3325A>T	NP_001338226.1:p.Arg1109Trp
NR_147094.1:n.3477A>T
XM_017018197.2:c.3397A>T	XP_016873686.1:p.Arg1133Trp
XM_017018199.1:c.3394A>T	XP_016873688.1:p.Arg1132Trp
XM_017018201.2:c.3397A>T	XP_016873690.1:p.Arg1133Trp
XM_017018202.1:c.1894A>T	XP_016873691.1:p.Arg632Trp
XM_017018204.1:c.1285A>T	XP_016873693.1:p.Arg429Trp
XM_024448668.1:c.1696A>T	XP_024304436.1:p.Arg566Trp
XR_001747945.2:n.3469A>T
XR_001747946.2:n.3400A>T
XR_002957189.1:n.3549A>T
NM_000352.6:c.3328A>T MANE Select	NP_000343.2:p.Arg1110Trp
NM_001287174.2:c.3331A>T	NP_001274103.1:p.Arg1111Trp
NM_001351295.2:c.3394A>T	NP_001338224.1:p.Arg1132Trp
NM_001351296.2:c.3328A>T	NP_001338225.1:p.Arg1110Trp
NM_001351297.2:c.3325A>T	NP_001338226.1:p.Arg1109Trp
NR_147094.2:n.3477A>T
NM_001287174.3:c.3331A>T	NP_001274103.1:p.Arg1111Trp