Canonical Allele Identifier: CA473298066

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1538128
• ClinVar RCV Id: RCV002167133
• dbSNP Id: rs1391041542
• gnomAD v2: 11-17415837-G-A
• gnomAD v4: 11-17394290-G-A
• MyVariant Identifiers: chr11:g.17415837G>A (hg19) ; chr11:g.17394290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394290G>A , CM000673.2:g.17394290G>A	GRCh38
NC_000011.9:g.17415837G>A , CM000673.1:g.17415837G>A	GRCh37
NC_000011.8:g.17372413G>A	NCBI36
NG_008867.1:g.87613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4122C>T
ENST00000526037.6:n.456C>T
ENST00000528374.2:c.1112C>T
ENST00000529967.6:n.2860C>T
ENST00000532220.2:n.3754C>T
ENST00000642611.2:n.5854C>T
ENST00000644057.2:n.1097C>T
ENST00000645004.2:n.2020C>T
ENST00000682051.1:n.4683C>T
ENST00000682110.1:n.4736C>T
ENST00000682140.1:c.*307C>T	ENSP00000507829.1:n.*307C>T
ENST00000682185.1:n.5826C>T
ENST00000682204.1:c.*2659C>T	ENSP00000507094.1:n.*2659C>T
ENST00000682215.1:n.5103C>T
ENST00000682288.1:c.*2952C>T	ENSP00000507506.1:n.*2952C>T
ENST00000682442.1:n.4956C>T
ENST00000682528.1:n.4813C>T
ENST00000682673.1:n.4680C>T
ENST00000682805.1:n.5141C>T
ENST00000682965.1:c.*943C>T	ENSP00000508229.1:n.*943C>T
ENST00000683093.1:n.5716C>T
ENST00000683136.1:c.4404C>T	ENSP00000507768.1:p.Ala1468=
ENST00000683153.1:n.4778C>T
ENST00000683365.1:n.4838C>T
ENST00000683377.1:n.4632C>T
ENST00000683456.1:c.*1658C>T	ENSP00000508318.1:n.*1658C>T
ENST00000683522.1:n.4818C>T
ENST00000683562.1:c.*2586C>T	ENSP00000508265.1:n.*2586C>T
ENST00000683693.1:n.6197C>T
ENST00000683725.1:c.4417C>T	ENSP00000507496.1:p.His1473Tyr
ENST00000684010.1:n.4731C>T
ENST00000684014.1:n.708C>T
ENST00000684157.1:n.5721C>T
ENST00000684253.1:n.4639C>T
ENST00000684288.1:c.*2693C>T	ENSP00000507143.1:n.*2693C>T
ENST00000684313.1:n.4168C>T
ENST00000684332.1:n.4809C>T
ENST00000684371.1:n.4842C>T
ENST00000684404.1:n.5764C>T
ENST00000684442.1:n.4960C>T
ENST00000684555.1:c.*2733C>T	ENSP00000507705.1:n.*2733C>T
ENST00000684571.1:c.4362C>T	ENSP00000506935.1:p.Ala1454=
ENST00000684593.1:c.*4226C>T	ENSP00000507005.1:n.*4226C>T
ENST00000684711.1:c.*2917C>T	ENSP00000506841.1:n.*2917C>T
ENST00000302539.9:c.4524C>T	ENSP00000303960.4:p.Ala1508=
ENST00000389817.8:c.4521C>T MANE Select	ENSP00000374467.4:p.Ala1507=
ENST00000642271.1:c.4518C>T	ENSP00000493749.1:p.Ala1506=
ENST00000642579.1:c.2575C>T
ENST00000642611.1:n.5739C>T
ENST00000642902.1:c.4303C>T
ENST00000643260.1:c.4521C>T	ENSP00000494450.1:p.Ala1507=
ENST00000643562.1:c.*2643C>T	ENSP00000496124.1:n.*2643C>T
ENST00000643925.1:c.3161C>T
ENST00000644057.1:n.680C>T
ENST00000644484.1:c.*3907C>T	ENSP00000493558.1:n.*3907C>T
ENST00000644675.1:c.*2693C>T	ENSP00000494567.1:n.*2693C>T
ENST00000644757.1:c.*3203-1310C>T	ENSP00000495085.1:n.*3203-1310C>T
ENST00000644772.1:c.4587C>T	ENSP00000494321.1:p.Ala1529=
ENST00000645004.1:n.2214C>T
ENST00000645076.1:c.3616C>T
ENST00000645417.1:c.1709C>T
ENST00000645744.1:c.*4206C>T	ENSP00000494564.1:n.*4206C>T
ENST00000645760.1:c.4942C>T
ENST00000645884.1:c.*1804C>T	ENSP00000495516.1:n.*1804C>T
ENST00000646003.1:c.*2543C>T	ENSP00000495259.1:n.*2543C>T
ENST00000646207.1:c.*3358C>T	ENSP00000495025.1:n.*3358C>T
ENST00000646276.1:c.*3925C>T	ENSP00000496070.1:n.*3925C>T
ENST00000646592.1:c.3827C>T
ENST00000646902.1:c.4488C>T	ENSP00000494101.1:p.Ala1496=
ENST00000646993.1:c.*2959C>T	ENSP00000493720.1:n.*2959C>T
ENST00000647013.1:c.4527C>T	ENSP00000496741.1:n.4527C>T
ENST00000647015.1:c.4272C>T	ENSP00000495389.1:p.Ala1424=
ENST00000647086.1:c.*4107C>T	ENSP00000493677.1:n.*4107C>T
ENST00000647158.1:c.*2808C>T	ENSP00000495744.1:n.*2808C>T
ENST00000302539.8:c.4524C>T	ENSP00000303960.4:p.Ala1508=
ENST00000389817.7:c.4521C>T	ENSP00000374467.3:p.Ala1507=
ENST00000525022.1:n.416C>T
ENST00000526037.5:n.281C>T
ENST00000526168.5:c.309C>T
ENST00000531642.5:c.552C>T
NM_000352.4:c.4521C>T	NP_000343.2:p.Ala1507=
NM_001287174.1:c.4524C>T	NP_001274103.1:p.Ala1508=
XM_011520331.1:c.4521C>T	XP_011518633.1:p.Ala1507=
XM_011520332.1:c.4420C>T	XP_011518634.1:p.His1474Tyr
XM_011520333.1:c.3021C>T	XP_011518635.1:p.Ala1007=
XR_930890.1:n.4483C>T
NM_001351295.1:c.4587C>T	NP_001338224.1:p.Ala1529=
NM_001351296.1:c.4521C>T	NP_001338225.1:p.Ala1507=
NM_001351297.1:c.4518C>T	NP_001338226.1:p.Ala1506=
NR_147094.1:n.4816C>T
XM_017018197.2:c.4590C>T	XP_016873686.1:p.Ala1530=
XM_017018199.1:c.4587C>T	XP_016873688.1:p.Ala1529=
XM_017018201.2:c.4486C>T	XP_016873690.1:p.His1496Tyr
XM_017018202.1:c.3087C>T	XP_016873691.1:p.Ala1029=
XM_017018204.1:c.2478C>T	XP_016873693.1:p.Ala826=
XM_024448668.1:c.2889C>T	XP_024304436.1:p.Ala963=
XR_001747945.2:n.4558C>T
XR_001747946.2:n.4489C>T
XR_002957189.1:n.6272C>T
NM_000352.6:c.4521C>T MANE Select	NP_000343.2:p.Ala1507=
NM_001287174.2:c.4524C>T	NP_001274103.1:p.Ala1508=
NM_001351295.2:c.4587C>T	NP_001338224.1:p.Ala1529=
NM_001351296.2:c.4521C>T	NP_001338225.1:p.Ala1507=
NM_001351297.2:c.4518C>T	NP_001338226.1:p.Ala1506=
NR_147094.2:n.4816C>T
NM_001287174.3:c.4524C>T	NP_001274103.1:p.Ala1508=