Canonical Allele Identifier: CA5902464

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2506186
• ClinVar RCV Id: RCV003236417 ; RCV003321985
• dbSNP Id: rs377696470
• ExAC: 11:17415872 C / T
• gnomAD v2: 11-17415872-C-T
• gnomAD v3: 11-17394325-C-T
• gnomAD v4: 11-17394325-C-T
• MyVariant Identifiers: chr11:g.17415872C>T (hg19) ; chr11:g.17394325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394325C>T , CM000673.2:g.17394325C>T	GRCh38
NC_000011.9:g.17415872C>T , CM000673.1:g.17415872C>T	GRCh37
NC_000011.8:g.17372448C>T	NCBI36
NG_008867.1:g.87578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4087G>A
ENST00000526037.6:n.421G>A
ENST00000528374.2:c.1077G>A
ENST00000529967.6:n.2825G>A
ENST00000532220.2:n.3719G>A
ENST00000642611.2:n.5819G>A
ENST00000644057.2:n.1062G>A
ENST00000645004.2:n.1985G>A
ENST00000682051.1:n.4648G>A
ENST00000682110.1:n.4701G>A
ENST00000682140.1:c.*272G>A	ENSP00000507829.1:n.*272G>A
ENST00000682185.1:n.5791G>A
ENST00000682204.1:c.*2624G>A	ENSP00000507094.1:n.*2624G>A
ENST00000682215.1:n.5068G>A
ENST00000682288.1:c.*2917G>A	ENSP00000507506.1:n.*2917G>A
ENST00000682442.1:n.4921G>A
ENST00000682528.1:n.4778G>A
ENST00000682673.1:n.4645G>A
ENST00000682805.1:n.5106G>A
ENST00000682965.1:c.*908G>A	ENSP00000508229.1:n.*908G>A
ENST00000683093.1:n.5681G>A
ENST00000683136.1:c.4369G>A	ENSP00000507768.1:p.Val1457Met
ENST00000683153.1:n.4743G>A
ENST00000683365.1:n.4803G>A
ENST00000683377.1:n.4597G>A
ENST00000683456.1:c.*1623G>A	ENSP00000508318.1:n.*1623G>A
ENST00000683522.1:n.4783G>A
ENST00000683562.1:c.*2551G>A	ENSP00000508265.1:n.*2551G>A
ENST00000683693.1:n.6162G>A
ENST00000683725.1:c.4382G>A	ENSP00000507496.1:p.Arg1461His
ENST00000684010.1:n.4696G>A
ENST00000684014.1:n.673G>A
ENST00000684157.1:n.5686G>A
ENST00000684253.1:n.4604G>A
ENST00000684288.1:c.*2658G>A	ENSP00000507143.1:n.*2658G>A
ENST00000684313.1:n.4133G>A
ENST00000684332.1:n.4774G>A
ENST00000684371.1:n.4807G>A
ENST00000684404.1:n.5729G>A
ENST00000684442.1:n.4925G>A
ENST00000684555.1:c.*2698G>A	ENSP00000507705.1:n.*2698G>A
ENST00000684571.1:c.4327G>A	ENSP00000506935.1:p.Val1443Met
ENST00000684593.1:c.*4191G>A	ENSP00000507005.1:n.*4191G>A
ENST00000684711.1:c.*2882G>A	ENSP00000506841.1:n.*2882G>A
ENST00000302539.9:c.4489G>A	ENSP00000303960.4:p.Val1497Met
ENST00000389817.8:c.4486G>A MANE Select	ENSP00000374467.4:p.Val1496Met
ENST00000642271.1:c.4483G>A	ENSP00000493749.1:p.Val1495Met
ENST00000642579.1:c.2540G>A
ENST00000642611.1:n.5704G>A
ENST00000642902.1:c.4268G>A
ENST00000643260.1:c.4486G>A	ENSP00000494450.1:p.Val1496Met
ENST00000643562.1:c.*2608G>A	ENSP00000496124.1:n.*2608G>A
ENST00000643925.1:c.3126G>A
ENST00000644057.1:n.645G>A
ENST00000644484.1:c.*3872G>A	ENSP00000493558.1:n.*3872G>A
ENST00000644675.1:c.*2658G>A	ENSP00000494567.1:n.*2658G>A
ENST00000644757.1:c.*3203-1345G>A	ENSP00000495085.1:n.*3203-1345G>A
ENST00000644772.1:c.4552G>A	ENSP00000494321.1:p.Val1518Met
ENST00000645004.1:n.2179G>A
ENST00000645076.1:c.3581G>A
ENST00000645417.1:c.1674G>A
ENST00000645744.1:c.*4171G>A	ENSP00000494564.1:n.*4171G>A
ENST00000645760.1:c.4907G>A
ENST00000645884.1:c.*1769G>A	ENSP00000495516.1:n.*1769G>A
ENST00000646003.1:c.*2508G>A	ENSP00000495259.1:n.*2508G>A
ENST00000646207.1:c.*3323G>A	ENSP00000495025.1:n.*3323G>A
ENST00000646276.1:c.*3890G>A	ENSP00000496070.1:n.*3890G>A
ENST00000646592.1:c.3792G>A
ENST00000646902.1:c.4453G>A	ENSP00000494101.1:p.Val1485Met
ENST00000646993.1:c.*2924G>A	ENSP00000493720.1:n.*2924G>A
ENST00000647013.1:c.4492G>A	ENSP00000496741.1:n.4492G>A
ENST00000647015.1:c.4237G>A	ENSP00000495389.1:p.Val1413Met
ENST00000647086.1:c.*4072G>A	ENSP00000493677.1:n.*4072G>A
ENST00000647158.1:c.*2773G>A	ENSP00000495744.1:n.*2773G>A
ENST00000302539.8:c.4489G>A	ENSP00000303960.4:p.Val1497Met
ENST00000389817.7:c.4486G>A	ENSP00000374467.3:p.Val1496Met
ENST00000525022.1:n.381G>A
ENST00000526037.5:n.246G>A
ENST00000526168.5:c.274G>A
ENST00000531642.5:c.517G>A
NM_000352.4:c.4486G>A	NP_000343.2:p.Val1496Met
NM_001287174.1:c.4489G>A	NP_001274103.1:p.Val1497Met
XM_011520331.1:c.4486G>A	XP_011518633.1:p.Val1496Met
XM_011520332.1:c.4385G>A	XP_011518634.1:p.Arg1462His
XM_011520333.1:c.2986G>A	XP_011518635.1:p.Val996Met
XR_930890.1:n.4448G>A
NM_001351295.1:c.4552G>A	NP_001338224.1:p.Val1518Met
NM_001351296.1:c.4486G>A	NP_001338225.1:p.Val1496Met
NM_001351297.1:c.4483G>A	NP_001338226.1:p.Val1495Met
NR_147094.1:n.4781G>A
XM_017018197.2:c.4555G>A	XP_016873686.1:p.Val1519Met
XM_017018199.1:c.4552G>A	XP_016873688.1:p.Val1518Met
XM_017018201.2:c.4451G>A	XP_016873690.1:p.Arg1484His
XM_017018202.1:c.3052G>A	XP_016873691.1:p.Val1018Met
XM_017018204.1:c.2443G>A	XP_016873693.1:p.Val815Met
XM_024448668.1:c.2854G>A	XP_024304436.1:p.Val952Met
XR_001747945.2:n.4523G>A
XR_001747946.2:n.4454G>A
XR_002957189.1:n.6237G>A
NM_000352.6:c.4486G>A MANE Select	NP_000343.2:p.Val1496Met
NM_001287174.2:c.4489G>A	NP_001274103.1:p.Val1497Met
NM_001351295.2:c.4552G>A	NP_001338224.1:p.Val1518Met
NM_001351296.2:c.4486G>A	NP_001338225.1:p.Val1496Met
NM_001351297.2:c.4483G>A	NP_001338226.1:p.Val1495Met
NR_147094.2:n.4781G>A
NM_001287174.3:c.4489G>A	NP_001274103.1:p.Val1497Met