Canonical Allele Identifier: CA473298025

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415265G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393718G>A , CM000673.2:g.17393718G>A	GRCh38
NC_000011.9:g.17415265G>A , CM000673.1:g.17415265G>A	GRCh37
NC_000011.8:g.17371841G>A	NCBI36
NG_008867.1:g.88185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4188C>T
ENST00000526037.6:n.522C>T
ENST00000528374.2:c.1178C>T
ENST00000529967.6:n.2926C>T
ENST00000532220.2:n.3820C>T
ENST00000642611.2:n.5920C>T
ENST00000644057.2:n.1163C>T
ENST00000645004.2:n.2086C>T
ENST00000682051.1:n.4749C>T
ENST00000682110.1:n.4802C>T
ENST00000682140.1:c.*373C>T	ENSP00000507829.1:n.*373C>T
ENST00000682185.1:n.5892C>T
ENST00000682204.1:c.*2725C>T	ENSP00000507094.1:n.*2725C>T
ENST00000682215.1:n.5169C>T
ENST00000682288.1:c.*3018C>T	ENSP00000507506.1:n.*3018C>T
ENST00000682442.1:n.5022C>T
ENST00000682528.1:n.4879C>T
ENST00000682673.1:n.4746C>T
ENST00000682805.1:n.5207C>T
ENST00000682965.1:c.*1009C>T	ENSP00000508229.1:n.*1009C>T
ENST00000683093.1:n.5782C>T
ENST00000683136.1:c.4470C>T	ENSP00000507768.1:p.Asp1490=
ENST00000683153.1:n.4844C>T
ENST00000683365.1:n.4904C>T
ENST00000683377.1:n.4698C>T
ENST00000683456.1:c.*1724C>T	ENSP00000508318.1:n.*1724C>T
ENST00000683522.1:n.4884C>T
ENST00000683562.1:c.*2652C>T	ENSP00000508265.1:n.*2652C>T
ENST00000683693.1:n.6263C>T
ENST00000683725.1:c.*52C>T	ENSP00000507496.1:n.*52C>T
ENST00000684010.1:n.4797C>T
ENST00000684014.1:n.774C>T
ENST00000684157.1:n.5787C>T
ENST00000684253.1:n.4705C>T
ENST00000684288.1:c.*2759C>T	ENSP00000507143.1:n.*2759C>T
ENST00000684313.1:n.4234C>T
ENST00000684332.1:n.4875C>T
ENST00000684371.1:n.4908C>T
ENST00000684404.1:n.5830C>T
ENST00000684442.1:n.5026C>T
ENST00000684555.1:c.*2799C>T	ENSP00000507705.1:n.*2799C>T
ENST00000684571.1:c.4428C>T	ENSP00000506935.1:p.Asp1476=
ENST00000684593.1:c.*4292C>T	ENSP00000507005.1:n.*4292C>T
ENST00000684711.1:c.*2983C>T	ENSP00000506841.1:n.*2983C>T
ENST00000302539.9:c.4590C>T	ENSP00000303960.4:p.Asp1530=
ENST00000389817.8:c.4587C>T MANE Select	ENSP00000374467.4:p.Asp1529=
ENST00000642271.1:c.4584C>T	ENSP00000493749.1:p.Asp1528=
ENST00000642579.1:c.2641C>T
ENST00000642611.1:n.5805C>T
ENST00000642902.1:c.4369C>T
ENST00000643260.1:c.4587C>T	ENSP00000494450.1:p.Asp1529=
ENST00000643562.1:c.*2709C>T	ENSP00000496124.1:n.*2709C>T
ENST00000643925.1:c.3185+548C>T
ENST00000644057.1:n.746C>T
ENST00000644484.1:c.*3973C>T	ENSP00000493558.1:n.*3973C>T
ENST00000644675.1:c.*2759C>T	ENSP00000494567.1:n.*2759C>T
ENST00000644757.1:c.*3203-738C>T	ENSP00000495085.1:n.*3203-738C>T
ENST00000644772.1:c.4653C>T	ENSP00000494321.1:p.Asp1551=
ENST00000645004.1:n.2280C>T
ENST00000645076.1:c.3682C>T
ENST00000645417.1:c.1775C>T
ENST00000645744.1:c.*4272C>T	ENSP00000494564.1:n.*4272C>T
ENST00000645760.1:c.5008C>T
ENST00000645884.1:c.*1870C>T	ENSP00000495516.1:n.*1870C>T
ENST00000646003.1:c.*2609C>T	ENSP00000495259.1:n.*2609C>T
ENST00000646207.1:c.*3424C>T	ENSP00000495025.1:n.*3424C>T
ENST00000646276.1:c.*3991C>T	ENSP00000496070.1:n.*3991C>T
ENST00000646592.1:c.3893C>T
ENST00000646902.1:c.4554C>T	ENSP00000494101.1:p.Asp1518=
ENST00000646993.1:c.*3025C>T	ENSP00000493720.1:n.*3025C>T
ENST00000647015.1:c.4338C>T	ENSP00000495389.1:p.Asp1446=
ENST00000647086.1:c.*4173C>T	ENSP00000493677.1:n.*4173C>T
ENST00000647158.1:c.*2874C>T	ENSP00000495744.1:n.*2874C>T
ENST00000302539.8:c.4590C>T	ENSP00000303960.4:p.Asp1530=
ENST00000389817.7:c.4587C>T	ENSP00000374467.3:p.Asp1529=
ENST00000525022.1:n.482C>T
ENST00000526037.5:n.347C>T
ENST00000526168.5:c.375C>T
ENST00000531642.5:c.618C>T
NM_000352.4:c.4587C>T	NP_000343.2:p.Asp1529=
NM_001287174.1:c.4590C>T	NP_001274103.1:p.Asp1530=
XM_011520331.1:c.4587C>T	XP_011518633.1:p.Asp1529=
XM_011520333.1:c.3087C>T	XP_011518635.1:p.Asp1029=
XR_930890.1:n.4549C>T
NM_001351295.1:c.4653C>T	NP_001338224.1:p.Asp1551=
NM_001351296.1:c.4587C>T	NP_001338225.1:p.Asp1529=
NM_001351297.1:c.4584C>T	NP_001338226.1:p.Asp1528=
NR_147094.1:n.4882C>T
XM_017018197.2:c.4656C>T	XP_016873686.1:p.Asp1552=
XM_017018199.1:c.4653C>T	XP_016873688.1:p.Asp1551=
XM_017018202.1:c.3153C>T	XP_016873691.1:p.Asp1051=
XM_017018204.1:c.2544C>T	XP_016873693.1:p.Asp848=
XM_024448668.1:c.2955C>T	XP_024304436.1:p.Asp985=
XR_001747945.2:n.4624C>T
XR_001747946.2:n.4555C>T
XR_002957189.1:n.6338C>T
NM_000352.6:c.4587C>T MANE Select	NP_000343.2:p.Asp1529=
NM_001287174.2:c.4590C>T	NP_001274103.1:p.Asp1530=
NM_001351295.2:c.4653C>T	NP_001338224.1:p.Asp1551=
NM_001351296.2:c.4587C>T	NP_001338225.1:p.Asp1529=
NM_001351297.2:c.4584C>T	NP_001338226.1:p.Asp1528=
NR_147094.2:n.4882C>T
NM_001287174.3:c.4590C>T	NP_001274103.1:p.Asp1530=