Canonical Allele Identifier: CA379801151

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428179C>T (hg19) ; chr11:g.17406632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406632C>T , CM000673.2:g.17406632C>T	GRCh38
NC_000011.9:g.17428179C>T , CM000673.1:g.17428179C>T	GRCh37
NC_000011.8:g.17384755C>T	NCBI36
NG_008867.1:g.75271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2888G>A
ENST00000529967.6:n.1658G>A
ENST00000532220.2:n.1051G>A
ENST00000642611.2:n.3388G>A
ENST00000645004.2:n.818G>A
ENST00000682051.1:n.3335G>A
ENST00000682110.1:n.3388G>A
ENST00000682140.1:c.3316G>A	ENSP00000507829.1:p.Ala1106Thr
ENST00000682185.1:n.4624G>A
ENST00000682204.1:c.*1457G>A	ENSP00000507094.1:n.*1457G>A
ENST00000682215.1:n.3385G>A
ENST00000682288.1:c.*1750G>A	ENSP00000507506.1:n.*1750G>A
ENST00000682442.1:n.3608G>A
ENST00000682528.1:n.3465G>A
ENST00000682673.1:n.3332G>A
ENST00000682805.1:n.3385G>A
ENST00000682965.1:c.3316G>A	ENSP00000508229.1:p.Ala1106Thr
ENST00000683093.1:n.3487G>A
ENST00000683136.1:c.3316G>A	ENSP00000507768.1:p.Ala1106Thr
ENST00000683153.1:n.3544G>A
ENST00000683365.1:n.3490G>A
ENST00000683377.1:n.3388G>A
ENST00000683456.1:c.*456G>A	ENSP00000508318.1:n.*456G>A
ENST00000683522.1:n.3388G>A
ENST00000683562.1:c.*1488G>A	ENSP00000508265.1:n.*1488G>A
ENST00000683693.1:n.3465G>A
ENST00000683725.1:c.3319G>A	ENSP00000507496.1:p.Ala1107Thr
ENST00000684010.1:n.3383G>A
ENST00000684157.1:n.3388G>A
ENST00000684253.1:n.3291G>A
ENST00000684288.1:c.*1491G>A	ENSP00000507143.1:n.*1491G>A
ENST00000684313.1:n.2820G>A
ENST00000684332.1:n.3461G>A
ENST00000684371.1:n.3494G>A
ENST00000684404.1:n.3431G>A
ENST00000684442.1:n.3388G>A
ENST00000684555.1:c.*1531G>A	ENSP00000507705.1:n.*1531G>A
ENST00000684571.1:c.3160G>A	ENSP00000506935.1:p.Ala1054Thr
ENST00000684593.1:c.*3024G>A	ENSP00000507005.1:n.*3024G>A
ENST00000684711.1:c.*1715G>A	ENSP00000506841.1:n.*1715G>A
ENST00000302539.9:c.3322G>A	ENSP00000303960.4:p.Ala1108Thr
ENST00000389817.8:c.3319G>A MANE Select	ENSP00000374467.4:p.Ala1107Thr
ENST00000642271.1:c.3316G>A	ENSP00000493749.1:p.Ala1106Thr
ENST00000642579.1:c.1403G>A
ENST00000642611.1:n.3273G>A
ENST00000642902.1:c.3101G>A
ENST00000643260.1:c.3319G>A	ENSP00000494450.1:p.Ala1107Thr
ENST00000643562.1:c.*1295G>A	ENSP00000496124.1:n.*1295G>A
ENST00000643925.1:c.1443G>A
ENST00000644447.1:c.1675G>A	ENSP00000496282.1:p.Ala559Thr
ENST00000644484.1:c.*1574G>A	ENSP00000493558.1:n.*1574G>A
ENST00000644542.1:c.*3123G>A	ENSP00000495532.1:n.*3123G>A
ENST00000644675.1:c.*1491G>A	ENSP00000494567.1:n.*1491G>A
ENST00000644757.1:c.*1604G>A	ENSP00000495085.1:n.*1604G>A
ENST00000644772.1:c.3385G>A	ENSP00000494321.1:p.Ala1129Thr
ENST00000645004.1:n.458G>A
ENST00000645076.1:c.2518G>A
ENST00000645417.1:c.485G>A
ENST00000645744.1:c.*1583G>A	ENSP00000494564.1:n.*1583G>A
ENST00000645760.1:c.3594G>A
ENST00000645884.1:c.*456G>A	ENSP00000495516.1:n.*456G>A
ENST00000646003.1:c.*1275G>A	ENSP00000495259.1:n.*1275G>A
ENST00000646207.1:c.*1786G>A	ENSP00000495025.1:n.*1786G>A
ENST00000646276.1:c.*1592G>A	ENSP00000496070.1:n.*1592G>A
ENST00000646592.1:c.2625G>A
ENST00000646902.1:c.3316G>A	ENSP00000494101.1:p.Ala1106Thr
ENST00000646993.1:c.*1715G>A	ENSP00000493720.1:n.*1715G>A
ENST00000647013.1:c.3325G>A	ENSP00000496741.1:n.3325G>A
ENST00000647015.1:c.3070G>A	ENSP00000495389.1:p.Ala1024Thr
ENST00000647086.1:c.*3049G>A	ENSP00000493677.1:n.*3049G>A
ENST00000647158.1:c.*1460G>A	ENSP00000495744.1:n.*1460G>A
ENST00000302539.8:c.3322G>A	ENSP00000303960.4:p.Ala1108Thr
ENST00000389817.7:c.3319G>A	ENSP00000374467.3:p.Ala1107Thr
ENST00000524561.1:n.451G>A
ENST00000527905.5:c.*195G>A	ENSP00000431653.1:n.*195G>A
NM_000352.4:c.3319G>A	NP_000343.2:p.Ala1107Thr
NM_001287174.1:c.3322G>A	NP_001274103.1:p.Ala1108Thr
XM_011520331.1:c.3319G>A	XP_011518633.1:p.Ala1107Thr
XM_011520332.1:c.3322G>A	XP_011518634.1:p.Ala1108Thr
XM_011520333.1:c.1819G>A	XP_011518635.1:p.Ala607Thr
XR_930890.1:n.3385G>A
XR_930891.1:n.3385G>A
XR_930892.1:n.3285G>A
XR_930893.1:n.3282G>A
NM_001351295.1:c.3385G>A	NP_001338224.1:p.Ala1129Thr
NM_001351296.1:c.3319G>A	NP_001338225.1:p.Ala1107Thr
NM_001351297.1:c.3316G>A	NP_001338226.1:p.Ala1106Thr
NR_147094.1:n.3468G>A
XM_017018197.2:c.3388G>A	XP_016873686.1:p.Ala1130Thr
XM_017018199.1:c.3385G>A	XP_016873688.1:p.Ala1129Thr
XM_017018201.2:c.3388G>A	XP_016873690.1:p.Ala1130Thr
XM_017018202.1:c.1885G>A	XP_016873691.1:p.Ala629Thr
XM_017018204.1:c.1276G>A	XP_016873693.1:p.Ala426Thr
XM_024448668.1:c.1687G>A	XP_024304436.1:p.Ala563Thr
XR_001747945.2:n.3460G>A
XR_001747946.2:n.3391G>A
XR_002957189.1:n.3540G>A
NM_000352.6:c.3319G>A MANE Select	NP_000343.2:p.Ala1107Thr
NM_001287174.2:c.3322G>A	NP_001274103.1:p.Ala1108Thr
NM_001351295.2:c.3385G>A	NP_001338224.1:p.Ala1129Thr
NM_001351296.2:c.3319G>A	NP_001338225.1:p.Ala1107Thr
NM_001351297.2:c.3316G>A	NP_001338226.1:p.Ala1106Thr
NR_147094.2:n.3468G>A
NM_001287174.3:c.3322G>A	NP_001274103.1:p.Ala1108Thr