Canonical Allele Identifier: CA473515827

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406708C>T , CM000673.2:g.17406708C>T	GRCh38
NC_000011.9:g.17428255C>T , CM000673.1:g.17428255C>T	GRCh37
NC_000011.8:g.17384831C>T	NCBI36
NG_008867.1:g.75195G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3243G>A MANE Select	NP_000343.2:p.Thr1081=
ENST00000389817.8:c.3243G>A MANE Select	ENSP00000374467.4:p.Thr1081=
NM_000352.4:c.3243G>A	NP_000343.2:p.Thr1081=
NM_001287174.1:c.3246G>A	NP_001274103.1:p.Thr1082=
NM_001287174.2:c.3246G>A	NP_001274103.1:p.Thr1082=
NM_001287174.3:c.3246G>A	NP_001274103.1:p.Thr1082=
NM_001351295.1:c.3309G>A	NP_001338224.1:p.Thr1103=
NM_001351295.2:c.3309G>A	NP_001338224.1:p.Thr1103=
NM_001351296.1:c.3243G>A	NP_001338225.1:p.Thr1081=
NM_001351296.2:c.3243G>A	NP_001338225.1:p.Thr1081=
NM_001351297.1:c.3240G>A	NP_001338226.1:p.Thr1080=
NM_001351297.2:c.3240G>A	NP_001338226.1:p.Thr1080=
NR_147094.1:n.3392G>A
NR_147094.2:n.3392G>A
ENST00000302539.8:c.3246G>A	ENSP00000303960.4:p.Thr1082=
ENST00000302539.9:c.3246G>A	ENSP00000303960.4:p.Thr1082=
ENST00000389817.7:c.3243G>A	ENSP00000374467.3:p.Thr1081=
ENST00000524561.1:n.375G>A
ENST00000524561.2:n.2812G>A
ENST00000526921.5:n.927G>A
ENST00000527905.5:c.*119G>A	ENSP00000431653.1:n.*119G>A
ENST00000529967.6:n.1582G>A
ENST00000532220.2:n.975G>A
ENST00000642271.1:c.3240G>A	ENSP00000493749.1:p.Thr1080=
ENST00000642579.1:c.1327G>A
ENST00000642611.1:n.3197G>A
ENST00000642611.2:n.3312G>A
ENST00000642902.1:c.3025G>A
ENST00000643260.1:c.3243G>A	ENSP00000494450.1:p.Thr1081=
ENST00000643562.1:c.*1219G>A	ENSP00000496124.1:n.*1219G>A
ENST00000643925.1:c.1367G>A
ENST00000644447.1:c.1599G>A	ENSP00000496282.1:p.Thr533=
ENST00000644484.1:c.*1498G>A	ENSP00000493558.1:n.*1498G>A
ENST00000644542.1:c.*3047G>A	ENSP00000495532.1:n.*3047G>A
ENST00000644675.1:c.*1415G>A	ENSP00000494567.1:n.*1415G>A
ENST00000644757.1:c.*1528G>A	ENSP00000495085.1:n.*1528G>A
ENST00000644772.1:c.3309G>A	ENSP00000494321.1:p.Thr1103=
ENST00000645004.1:n.382G>A
ENST00000645004.2:n.742G>A
ENST00000645076.1:c.2442G>A
ENST00000645417.1:c.409G>A
ENST00000645744.1:c.*1507G>A	ENSP00000494564.1:n.*1507G>A
ENST00000645760.1:c.3518G>A
ENST00000645884.1:c.*380G>A	ENSP00000495516.1:n.*380G>A
ENST00000646003.1:c.*1199G>A	ENSP00000495259.1:n.*1199G>A
ENST00000646207.1:c.*1710G>A	ENSP00000495025.1:n.*1710G>A
ENST00000646276.1:c.*1516G>A	ENSP00000496070.1:n.*1516G>A
ENST00000646592.1:c.2549G>A
ENST00000646902.1:c.3240G>A	ENSP00000494101.1:p.Thr1080=
ENST00000646993.1:c.*1639G>A	ENSP00000493720.1:n.*1639G>A
ENST00000647013.1:c.3249G>A	ENSP00000496741.1:n.3249G>A
ENST00000647015.1:c.2994G>A	ENSP00000495389.1:p.Thr998=
ENST00000647086.1:c.*2973G>A	ENSP00000493677.1:n.*2973G>A
ENST00000647158.1:c.*1384G>A	ENSP00000495744.1:n.*1384G>A
ENST00000682051.1:n.3259G>A
ENST00000682110.1:n.3312G>A
ENST00000682140.1:c.3240G>A	ENSP00000507829.1:p.Thr1080=
ENST00000682185.1:n.4548G>A
ENST00000682204.1:c.*1381G>A	ENSP00000507094.1:n.*1381G>A
ENST00000682215.1:n.3309G>A
ENST00000682288.1:c.*1674G>A	ENSP00000507506.1:n.*1674G>A
ENST00000682442.1:n.3532G>A
ENST00000682528.1:n.3389G>A
ENST00000682673.1:n.3256G>A
ENST00000682805.1:n.3309G>A
ENST00000682965.1:c.3240G>A	ENSP00000508229.1:p.Thr1080=
ENST00000683093.1:n.3411G>A
ENST00000683136.1:c.3240G>A	ENSP00000507768.1:p.Thr1080=
ENST00000683153.1:n.3468G>A
ENST00000683365.1:n.3414G>A
ENST00000683377.1:n.3312G>A
ENST00000683456.1:c.*380G>A	ENSP00000508318.1:n.*380G>A
ENST00000683522.1:n.3312G>A
ENST00000683562.1:c.*1412G>A	ENSP00000508265.1:n.*1412G>A
ENST00000683693.1:n.3389G>A
ENST00000683725.1:c.3243G>A	ENSP00000507496.1:p.Thr1081=
ENST00000684010.1:n.3307G>A
ENST00000684157.1:n.3312G>A
ENST00000684253.1:n.3215G>A
ENST00000684288.1:c.*1415G>A	ENSP00000507143.1:n.*1415G>A
ENST00000684313.1:n.2744G>A
ENST00000684332.1:n.3385G>A
ENST00000684371.1:n.3418G>A
ENST00000684404.1:n.3355G>A
ENST00000684442.1:n.3312G>A
ENST00000684555.1:c.*1455G>A	ENSP00000507705.1:n.*1455G>A
ENST00000684571.1:c.3084G>A	ENSP00000506935.1:p.Thr1028=
ENST00000684593.1:c.*2948G>A	ENSP00000507005.1:n.*2948G>A
ENST00000684711.1:c.*1639G>A	ENSP00000506841.1:n.*1639G>A
XM_011520331.1:c.3243G>A	XP_011518633.1:p.Thr1081=
XM_011520332.1:c.3246G>A	XP_011518634.1:p.Thr1082=
XM_011520333.1:c.1743G>A	XP_011518635.1:p.Thr581=
XM_017018197.2:c.3312G>A	XP_016873686.1:p.Thr1104=
XM_017018199.1:c.3309G>A	XP_016873688.1:p.Thr1103=
XM_017018201.2:c.3312G>A	XP_016873690.1:p.Thr1104=
XM_017018202.1:c.1809G>A	XP_016873691.1:p.Thr603=
XM_017018204.1:c.1200G>A	XP_016873693.1:p.Thr400=
XM_024448668.1:c.1611G>A	XP_024304436.1:p.Thr537=
XR_001747945.2:n.3384G>A
XR_001747946.2:n.3315G>A
XR_002957189.1:n.3464G>A
XR_930890.1:n.3309G>A
XR_930891.1:n.3309G>A
XR_930892.1:n.3209G>A
XR_930893.1:n.3206G>A