Canonical Allele Identifier: CA379783013

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415858G>C (hg19) ; chr11:g.17394311G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394311G>C , CM000673.2:g.17394311G>C	GRCh38
NC_000011.9:g.17415858G>C , CM000673.1:g.17415858G>C	GRCh37
NC_000011.8:g.17372434G>C	NCBI36
NG_008867.1:g.87592C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4101C>G
ENST00000526037.6:n.435C>G
ENST00000528374.2:c.1091C>G
ENST00000529967.6:n.2839C>G
ENST00000532220.2:n.3733C>G
ENST00000642611.2:n.5833C>G
ENST00000644057.2:n.1076C>G
ENST00000645004.2:n.1999C>G
ENST00000682051.1:n.4662C>G
ENST00000682110.1:n.4715C>G
ENST00000682140.1:c.*286C>G	ENSP00000507829.1:n.*286C>G
ENST00000682185.1:n.5805C>G
ENST00000682204.1:c.*2638C>G	ENSP00000507094.1:n.*2638C>G
ENST00000682215.1:n.5082C>G
ENST00000682288.1:c.*2931C>G	ENSP00000507506.1:n.*2931C>G
ENST00000682442.1:n.4935C>G
ENST00000682528.1:n.4792C>G
ENST00000682673.1:n.4659C>G
ENST00000682805.1:n.5120C>G
ENST00000682965.1:c.*922C>G	ENSP00000508229.1:n.*922C>G
ENST00000683093.1:n.5695C>G
ENST00000683136.1:c.4383C>G	ENSP00000507768.1:p.Ser1461Arg
ENST00000683153.1:n.4757C>G
ENST00000683365.1:n.4817C>G
ENST00000683377.1:n.4611C>G
ENST00000683456.1:c.*1637C>G	ENSP00000508318.1:n.*1637C>G
ENST00000683522.1:n.4797C>G
ENST00000683562.1:c.*2565C>G	ENSP00000508265.1:n.*2565C>G
ENST00000683693.1:n.6176C>G
ENST00000683725.1:c.4396C>G	ENSP00000507496.1:p.His1466Asp
ENST00000684010.1:n.4710C>G
ENST00000684014.1:n.687C>G
ENST00000684157.1:n.5700C>G
ENST00000684253.1:n.4618C>G
ENST00000684288.1:c.*2672C>G	ENSP00000507143.1:n.*2672C>G
ENST00000684313.1:n.4147C>G
ENST00000684332.1:n.4788C>G
ENST00000684371.1:n.4821C>G
ENST00000684404.1:n.5743C>G
ENST00000684442.1:n.4939C>G
ENST00000684555.1:c.*2712C>G	ENSP00000507705.1:n.*2712C>G
ENST00000684571.1:c.4341C>G	ENSP00000506935.1:p.Ser1447Arg
ENST00000684593.1:c.*4205C>G	ENSP00000507005.1:n.*4205C>G
ENST00000684711.1:c.*2896C>G	ENSP00000506841.1:n.*2896C>G
ENST00000302539.9:c.4503C>G	ENSP00000303960.4:p.Ser1501Arg
ENST00000389817.8:c.4500C>G MANE Select	ENSP00000374467.4:p.Ser1500Arg
ENST00000642271.1:c.4497C>G	ENSP00000493749.1:p.Ser1499Arg
ENST00000642579.1:c.2554C>G
ENST00000642611.1:n.5718C>G
ENST00000642902.1:c.4282C>G
ENST00000643260.1:c.4500C>G	ENSP00000494450.1:p.Ser1500Arg
ENST00000643562.1:c.*2622C>G	ENSP00000496124.1:n.*2622C>G
ENST00000643925.1:c.3140C>G
ENST00000644057.1:n.659C>G
ENST00000644484.1:c.*3886C>G	ENSP00000493558.1:n.*3886C>G
ENST00000644675.1:c.*2672C>G	ENSP00000494567.1:n.*2672C>G
ENST00000644757.1:c.*3203-1331C>G	ENSP00000495085.1:n.*3203-1331C>G
ENST00000644772.1:c.4566C>G	ENSP00000494321.1:p.Ser1522Arg
ENST00000645004.1:n.2193C>G
ENST00000645076.1:c.3595C>G
ENST00000645417.1:c.1688C>G
ENST00000645744.1:c.*4185C>G	ENSP00000494564.1:n.*4185C>G
ENST00000645760.1:c.4921C>G
ENST00000645884.1:c.*1783C>G	ENSP00000495516.1:n.*1783C>G
ENST00000646003.1:c.*2522C>G	ENSP00000495259.1:n.*2522C>G
ENST00000646207.1:c.*3337C>G	ENSP00000495025.1:n.*3337C>G
ENST00000646276.1:c.*3904C>G	ENSP00000496070.1:n.*3904C>G
ENST00000646592.1:c.3806C>G
ENST00000646902.1:c.4467C>G	ENSP00000494101.1:p.Ser1489Arg
ENST00000646993.1:c.*2938C>G	ENSP00000493720.1:n.*2938C>G
ENST00000647013.1:c.4506C>G	ENSP00000496741.1:n.4506C>G
ENST00000647015.1:c.4251C>G	ENSP00000495389.1:p.Ser1417Arg
ENST00000647086.1:c.*4086C>G	ENSP00000493677.1:n.*4086C>G
ENST00000647158.1:c.*2787C>G	ENSP00000495744.1:n.*2787C>G
ENST00000302539.8:c.4503C>G	ENSP00000303960.4:p.Ser1501Arg
ENST00000389817.7:c.4500C>G	ENSP00000374467.3:p.Ser1500Arg
ENST00000525022.1:n.395C>G
ENST00000526037.5:n.260C>G
ENST00000526168.5:c.288C>G
ENST00000531642.5:c.531C>G
NM_000352.4:c.4500C>G	NP_000343.2:p.Ser1500Arg
NM_001287174.1:c.4503C>G	NP_001274103.1:p.Ser1501Arg
XM_011520331.1:c.4500C>G	XP_011518633.1:p.Ser1500Arg
XM_011520332.1:c.4399C>G	XP_011518634.1:p.His1467Asp
XM_011520333.1:c.3000C>G	XP_011518635.1:p.Ser1000Arg
XR_930890.1:n.4462C>G
NM_001351295.1:c.4566C>G	NP_001338224.1:p.Ser1522Arg
NM_001351296.1:c.4500C>G	NP_001338225.1:p.Ser1500Arg
NM_001351297.1:c.4497C>G	NP_001338226.1:p.Ser1499Arg
NR_147094.1:n.4795C>G
XM_017018197.2:c.4569C>G	XP_016873686.1:p.Ser1523Arg
XM_017018199.1:c.4566C>G	XP_016873688.1:p.Ser1522Arg
XM_017018201.2:c.4465C>G	XP_016873690.1:p.His1489Asp
XM_017018202.1:c.3066C>G	XP_016873691.1:p.Ser1022Arg
XM_017018204.1:c.2457C>G	XP_016873693.1:p.Ser819Arg
XM_024448668.1:c.2868C>G	XP_024304436.1:p.Ser956Arg
XR_001747945.2:n.4537C>G
XR_001747946.2:n.4468C>G
XR_002957189.1:n.6251C>G
NM_000352.6:c.4500C>G MANE Select	NP_000343.2:p.Ser1500Arg
NM_001287174.2:c.4503C>G	NP_001274103.1:p.Ser1501Arg
NM_001351295.2:c.4566C>G	NP_001338224.1:p.Ser1522Arg
NM_001351296.2:c.4500C>G	NP_001338225.1:p.Ser1500Arg
NM_001351297.2:c.4497C>G	NP_001338226.1:p.Ser1499Arg
NR_147094.2:n.4795C>G
NM_001287174.3:c.4503C>G	NP_001274103.1:p.Ser1501Arg