Canonical Allele Identifier: CA5902452

Gene: ABCC8

Linked Data

• dbSNP Id: rs372388771
• ExAC: 11:17415813 C / A
• gnomAD v2: 11-17415813-C-A
• gnomAD v4: 11-17394266-C-A
• MyVariant Identifiers: chr11:g.17415813C>A (hg19) ; chr11:g.17394266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394266C>A , CM000673.2:g.17394266C>A	GRCh38
NC_000011.9:g.17415813C>A , CM000673.1:g.17415813C>A	GRCh37
NC_000011.8:g.17372389C>A	NCBI36
NG_008867.1:g.87637G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4146G>T
ENST00000526037.6:n.480G>T
ENST00000528374.2:c.1136G>T
ENST00000529967.6:n.2884G>T
ENST00000532220.2:n.3778G>T
ENST00000642611.2:n.5878G>T
ENST00000644057.2:n.1121G>T
ENST00000645004.2:n.2044G>T
ENST00000682051.1:n.4707G>T
ENST00000682110.1:n.4760G>T
ENST00000682140.1:c.*331G>T	ENSP00000507829.1:n.*331G>T
ENST00000682185.1:n.5850G>T
ENST00000682204.1:c.*2683G>T	ENSP00000507094.1:n.*2683G>T
ENST00000682215.1:n.5127G>T
ENST00000682288.1:c.*2976G>T	ENSP00000507506.1:n.*2976G>T
ENST00000682442.1:n.4980G>T
ENST00000682528.1:n.4837G>T
ENST00000682673.1:n.4704G>T
ENST00000682805.1:n.5165G>T
ENST00000682965.1:c.*967G>T	ENSP00000508229.1:n.*967G>T
ENST00000683093.1:n.5740G>T
ENST00000683136.1:c.4428G>T	ENSP00000507768.1:p.Thr1476=
ENST00000683153.1:n.4802G>T
ENST00000683365.1:n.4862G>T
ENST00000683377.1:n.4656G>T
ENST00000683456.1:c.*1682G>T	ENSP00000508318.1:n.*1682G>T
ENST00000683522.1:n.4842G>T
ENST00000683562.1:c.*2610G>T	ENSP00000508265.1:n.*2610G>T
ENST00000683693.1:n.6221G>T
ENST00000683725.1:c.*10G>T	ENSP00000507496.1:n.*10G>T
ENST00000684010.1:n.4755G>T
ENST00000684014.1:n.732G>T
ENST00000684157.1:n.5745G>T
ENST00000684253.1:n.4663G>T
ENST00000684288.1:c.*2717G>T	ENSP00000507143.1:n.*2717G>T
ENST00000684313.1:n.4192G>T
ENST00000684332.1:n.4833G>T
ENST00000684371.1:n.4866G>T
ENST00000684404.1:n.5788G>T
ENST00000684442.1:n.4984G>T
ENST00000684555.1:c.*2757G>T	ENSP00000507705.1:n.*2757G>T
ENST00000684571.1:c.4386G>T	ENSP00000506935.1:p.Thr1462=
ENST00000684593.1:c.*4250G>T	ENSP00000507005.1:n.*4250G>T
ENST00000684711.1:c.*2941G>T	ENSP00000506841.1:n.*2941G>T
ENST00000302539.9:c.4548G>T	ENSP00000303960.4:p.Thr1516=
ENST00000389817.8:c.4545G>T MANE Select	ENSP00000374467.4:p.Thr1515=
ENST00000642271.1:c.4542G>T	ENSP00000493749.1:p.Thr1514=
ENST00000642579.1:c.2599G>T
ENST00000642611.1:n.5763G>T
ENST00000642902.1:c.4327G>T
ENST00000643260.1:c.4545G>T	ENSP00000494450.1:p.Thr1515=
ENST00000643562.1:c.*2667G>T	ENSP00000496124.1:n.*2667G>T
ENST00000643925.1:c.3185G>T
ENST00000644057.1:n.704G>T
ENST00000644484.1:c.*3931G>T	ENSP00000493558.1:n.*3931G>T
ENST00000644675.1:c.*2717G>T	ENSP00000494567.1:n.*2717G>T
ENST00000644757.1:c.*3203-1286G>T	ENSP00000495085.1:n.*3203-1286G>T
ENST00000644772.1:c.4611G>T	ENSP00000494321.1:p.Thr1537=
ENST00000645004.1:n.2238G>T
ENST00000645076.1:c.3640G>T
ENST00000645417.1:c.1733G>T
ENST00000645744.1:c.*4230G>T	ENSP00000494564.1:n.*4230G>T
ENST00000645760.1:c.4966G>T
ENST00000645884.1:c.*1828G>T	ENSP00000495516.1:n.*1828G>T
ENST00000646003.1:c.*2567G>T	ENSP00000495259.1:n.*2567G>T
ENST00000646207.1:c.*3382G>T	ENSP00000495025.1:n.*3382G>T
ENST00000646276.1:c.*3949G>T	ENSP00000496070.1:n.*3949G>T
ENST00000646592.1:c.3851G>T
ENST00000646902.1:c.4512G>T	ENSP00000494101.1:p.Thr1504=
ENST00000646993.1:c.*2983G>T	ENSP00000493720.1:n.*2983G>T
ENST00000647015.1:c.4296G>T	ENSP00000495389.1:p.Thr1432=
ENST00000647086.1:c.*4131G>T	ENSP00000493677.1:n.*4131G>T
ENST00000647158.1:c.*2832G>T	ENSP00000495744.1:n.*2832G>T
ENST00000302539.8:c.4548G>T	ENSP00000303960.4:p.Thr1516=
ENST00000389817.7:c.4545G>T	ENSP00000374467.3:p.Thr1515=
ENST00000525022.1:n.440G>T
ENST00000526037.5:n.305G>T
ENST00000526168.5:c.333G>T
ENST00000531642.5:c.576G>T
NM_000352.4:c.4545G>T	NP_000343.2:p.Thr1515=
NM_001287174.1:c.4548G>T	NP_001274103.1:p.Thr1516=
XM_011520331.1:c.4545G>T	XP_011518633.1:p.Thr1515=
XM_011520332.1:c.*10G>T	XP_011518634.1:n.*10G>T
XM_011520333.1:c.3045G>T	XP_011518635.1:p.Thr1015=
XR_930890.1:n.4507G>T
NM_001351295.1:c.4611G>T	NP_001338224.1:p.Thr1537=
NM_001351296.1:c.4545G>T	NP_001338225.1:p.Thr1515=
NM_001351297.1:c.4542G>T	NP_001338226.1:p.Thr1514=
NR_147094.1:n.4840G>T
XM_017018197.2:c.4614G>T	XP_016873686.1:p.Thr1538=
XM_017018199.1:c.4611G>T	XP_016873688.1:p.Thr1537=
XM_017018201.2:c.*10G>T	XP_016873690.1:n.*10G>T
XM_017018202.1:c.3111G>T	XP_016873691.1:p.Thr1037=
XM_017018204.1:c.2502G>T	XP_016873693.1:p.Thr834=
XM_024448668.1:c.2913G>T	XP_024304436.1:p.Thr971=
XR_001747945.2:n.4582G>T
XR_001747946.2:n.4513G>T
XR_002957189.1:n.6296G>T
NM_000352.6:c.4545G>T MANE Select	NP_000343.2:p.Thr1515=
NM_001287174.2:c.4548G>T	NP_001274103.1:p.Thr1516=
NM_001351295.2:c.4611G>T	NP_001338224.1:p.Thr1537=
NM_001351296.2:c.4545G>T	NP_001338225.1:p.Thr1515=
NM_001351297.2:c.4542G>T	NP_001338226.1:p.Thr1514=
NR_147094.2:n.4840G>T
NM_001287174.3:c.4548G>T	NP_001274103.1:p.Thr1516=