Canonical Allele Identifier: CA473298246

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395672-G-A
• MyVariant Identifiers: chr11:g.17417219G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395672G>A , CM000673.2:g.17395672G>A	GRCh38
NC_000011.9:g.17417219G>A , CM000673.1:g.17417219G>A	GRCh37
NC_000011.8:g.17373795G>A	NCBI36
NG_008867.1:g.86231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3846C>T
ENST00000528374.2:c.836C>T
ENST00000529967.6:n.2584C>T
ENST00000532220.2:n.3478C>T
ENST00000642611.2:n.5578C>T
ENST00000644057.2:n.821C>T
ENST00000645004.2:n.1744C>T
ENST00000682051.1:n.4407C>T
ENST00000682110.1:n.4460C>T
ENST00000682140.1:c.*31C>T	ENSP00000507829.1:n.*31C>T
ENST00000682185.1:n.5550C>T
ENST00000682204.1:c.*2383C>T	ENSP00000507094.1:n.*2383C>T
ENST00000682215.1:n.4827C>T
ENST00000682288.1:c.*2676C>T	ENSP00000507506.1:n.*2676C>T
ENST00000682442.1:n.4680C>T
ENST00000682528.1:n.4537C>T
ENST00000682673.1:n.4404C>T
ENST00000682805.1:n.4865C>T
ENST00000682965.1:c.*667C>T	ENSP00000508229.1:n.*667C>T
ENST00000683093.1:n.5544C>T
ENST00000683136.1:c.4128C>T	ENSP00000507768.1:p.His1376=
ENST00000683153.1:n.4502C>T
ENST00000683365.1:n.4562C>T
ENST00000683377.1:n.4460C>T
ENST00000683456.1:c.*1382C>T	ENSP00000508318.1:n.*1382C>T
ENST00000683522.1:n.4460C>T
ENST00000683562.1:c.*2414C>T	ENSP00000508265.1:n.*2414C>T
ENST00000683693.1:n.6025C>T
ENST00000683725.1:c.4245C>T	ENSP00000507496.1:p.His1415=
ENST00000684010.1:n.4455C>T
ENST00000684157.1:n.5445C>T
ENST00000684253.1:n.4363C>T
ENST00000684288.1:c.*2417C>T	ENSP00000507143.1:n.*2417C>T
ENST00000684313.1:n.3892C>T
ENST00000684332.1:n.4533C>T
ENST00000684371.1:n.4566C>T
ENST00000684404.1:n.5488C>T
ENST00000684442.1:n.4684C>T
ENST00000684555.1:c.*2457C>T	ENSP00000507705.1:n.*2457C>T
ENST00000684571.1:c.4086C>T	ENSP00000506935.1:p.His1362=
ENST00000684593.1:c.*3950C>T	ENSP00000507005.1:n.*3950C>T
ENST00000684711.1:c.*2641C>T	ENSP00000506841.1:n.*2641C>T
ENST00000302539.9:c.4248C>T	ENSP00000303960.4:p.His1416=
ENST00000389817.8:c.4245C>T MANE Select	ENSP00000374467.4:p.His1415=
ENST00000642271.1:c.4242C>T	ENSP00000493749.1:p.His1414=
ENST00000642579.1:c.2299C>T
ENST00000642611.1:n.5463C>T
ENST00000642902.1:c.4027C>T
ENST00000643260.1:c.4245C>T	ENSP00000494450.1:p.His1415=
ENST00000643562.1:c.*2367C>T	ENSP00000496124.1:n.*2367C>T
ENST00000643925.1:c.2885C>T
ENST00000644057.1:n.322C>T
ENST00000644484.1:c.*3631C>T	ENSP00000493558.1:n.*3631C>T
ENST00000644675.1:c.*2417C>T	ENSP00000494567.1:n.*2417C>T
ENST00000644757.1:c.*3202+592C>T	ENSP00000495085.1:n.*3202+592C>T
ENST00000644772.1:c.4311C>T	ENSP00000494321.1:p.His1437=
ENST00000645004.1:n.1938C>T
ENST00000645076.1:c.3444C>T
ENST00000645417.1:c.1433C>T
ENST00000645744.1:c.*3964-34C>T	ENSP00000494564.1:n.*3964-34C>T
ENST00000645760.1:c.4666C>T
ENST00000645884.1:c.*1528C>T	ENSP00000495516.1:n.*1528C>T
ENST00000646003.1:c.*2301-34C>T	ENSP00000495259.1:n.*2301-34C>T
ENST00000646207.1:c.*3082C>T	ENSP00000495025.1:n.*3082C>T
ENST00000646276.1:c.*3649C>T	ENSP00000496070.1:n.*3649C>T
ENST00000646592.1:c.3551C>T
ENST00000646902.1:c.4212C>T	ENSP00000494101.1:p.His1404=
ENST00000646993.1:c.*2787C>T	ENSP00000493720.1:n.*2787C>T
ENST00000647013.1:c.4251C>T	ENSP00000496741.1:n.4251C>T
ENST00000647015.1:c.3996C>T	ENSP00000495389.1:p.His1332=
ENST00000647086.1:c.*3831C>T	ENSP00000493677.1:n.*3831C>T
ENST00000647158.1:c.*2532C>T	ENSP00000495744.1:n.*2532C>T
ENST00000302539.8:c.4248C>T	ENSP00000303960.4:p.His1416=
ENST00000389817.7:c.4245C>T	ENSP00000374467.3:p.His1415=
ENST00000525022.1:n.244C>T
ENST00000526037.5:n.109C>T
ENST00000526168.5:c.67-34C>T
ENST00000531642.5:c.81C>T
NM_000352.4:c.4245C>T	NP_000343.2:p.His1415=
NM_001287174.1:c.4248C>T	NP_001274103.1:p.His1416=
XM_011520331.1:c.4245C>T	XP_011518633.1:p.His1415=
XM_011520332.1:c.4248C>T	XP_011518634.1:p.His1416=
XM_011520333.1:c.2745C>T	XP_011518635.1:p.His915=
XR_930890.1:n.4311C>T
NM_001351295.1:c.4311C>T	NP_001338224.1:p.His1437=
NM_001351296.1:c.4245C>T	NP_001338225.1:p.His1415=
NM_001351297.1:c.4242C>T	NP_001338226.1:p.His1414=
NR_147094.1:n.4540C>T
XM_017018197.2:c.4314C>T	XP_016873686.1:p.His1438=
XM_017018199.1:c.4311C>T	XP_016873688.1:p.His1437=
XM_017018201.2:c.4314C>T	XP_016873690.1:p.His1438=
XM_017018202.1:c.2811C>T	XP_016873691.1:p.His937=
XM_017018204.1:c.2202C>T	XP_016873693.1:p.His734=
XM_024448668.1:c.2613C>T	XP_024304436.1:p.His871=
XR_001747945.2:n.4386C>T
XR_001747946.2:n.4317C>T
XR_002957189.1:n.6100C>T
NM_000352.6:c.4245C>T MANE Select	NP_000343.2:p.His1415=
NM_001287174.2:c.4248C>T	NP_001274103.1:p.His1416=
NM_001351295.2:c.4311C>T	NP_001338224.1:p.His1437=
NM_001351296.2:c.4245C>T	NP_001338225.1:p.His1415=
NM_001351297.2:c.4242C>T	NP_001338226.1:p.His1414=
NR_147094.2:n.4540C>T
NM_001287174.3:c.4248C>T	NP_001274103.1:p.His1416=