Canonical Allele Identifier: CA473298024

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415262G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393715G>T , CM000673.2:g.17393715G>T	GRCh38
NC_000011.9:g.17415262G>T , CM000673.1:g.17415262G>T	GRCh37
NC_000011.8:g.17371838G>T	NCBI36
NG_008867.1:g.88188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4191C>A
ENST00000526037.6:n.525C>A
ENST00000528374.2:c.1181C>A
ENST00000529967.6:n.2929C>A
ENST00000532220.2:n.3823C>A
ENST00000642611.2:n.5923C>A
ENST00000644057.2:n.1166C>A
ENST00000645004.2:n.2089C>A
ENST00000682051.1:n.4752C>A
ENST00000682110.1:n.4805C>A
ENST00000682140.1:c.*376C>A	ENSP00000507829.1:n.*376C>A
ENST00000682185.1:n.5895C>A
ENST00000682204.1:c.*2728C>A	ENSP00000507094.1:n.*2728C>A
ENST00000682215.1:n.5172C>A
ENST00000682288.1:c.*3021C>A	ENSP00000507506.1:n.*3021C>A
ENST00000682442.1:n.5025C>A
ENST00000682528.1:n.4882C>A
ENST00000682673.1:n.4749C>A
ENST00000682805.1:n.5210C>A
ENST00000682965.1:c.*1012C>A	ENSP00000508229.1:n.*1012C>A
ENST00000683093.1:n.5785C>A
ENST00000683136.1:c.4473C>A	ENSP00000507768.1:p.Arg1491=
ENST00000683153.1:n.4847C>A
ENST00000683365.1:n.4907C>A
ENST00000683377.1:n.4701C>A
ENST00000683456.1:c.*1727C>A	ENSP00000508318.1:n.*1727C>A
ENST00000683522.1:n.4887C>A
ENST00000683562.1:c.*2655C>A	ENSP00000508265.1:n.*2655C>A
ENST00000683693.1:n.6266C>A
ENST00000683725.1:c.*55C>A	ENSP00000507496.1:n.*55C>A
ENST00000684010.1:n.4800C>A
ENST00000684014.1:n.777C>A
ENST00000684157.1:n.5790C>A
ENST00000684253.1:n.4708C>A
ENST00000684288.1:c.*2762C>A	ENSP00000507143.1:n.*2762C>A
ENST00000684313.1:n.4237C>A
ENST00000684332.1:n.4878C>A
ENST00000684371.1:n.4911C>A
ENST00000684404.1:n.5833C>A
ENST00000684442.1:n.5029C>A
ENST00000684555.1:c.*2802C>A	ENSP00000507705.1:n.*2802C>A
ENST00000684571.1:c.4431C>A	ENSP00000506935.1:p.Arg1477=
ENST00000684593.1:c.*4295C>A	ENSP00000507005.1:n.*4295C>A
ENST00000684711.1:c.*2986C>A	ENSP00000506841.1:n.*2986C>A
ENST00000302539.9:c.4593C>A	ENSP00000303960.4:p.Arg1531=
ENST00000389817.8:c.4590C>A MANE Select	ENSP00000374467.4:p.Arg1530=
ENST00000642271.1:c.4587C>A	ENSP00000493749.1:p.Arg1529=
ENST00000642579.1:c.2644C>A
ENST00000642611.1:n.5808C>A
ENST00000642902.1:c.4372C>A
ENST00000643260.1:c.4590C>A	ENSP00000494450.1:p.Arg1530=
ENST00000643562.1:c.*2712C>A	ENSP00000496124.1:n.*2712C>A
ENST00000643925.1:c.3185+551C>A
ENST00000644057.1:n.749C>A
ENST00000644484.1:c.*3976C>A	ENSP00000493558.1:n.*3976C>A
ENST00000644675.1:c.*2762C>A	ENSP00000494567.1:n.*2762C>A
ENST00000644757.1:c.*3203-735C>A	ENSP00000495085.1:n.*3203-735C>A
ENST00000644772.1:c.4656C>A	ENSP00000494321.1:p.Arg1552=
ENST00000645004.1:n.2283C>A
ENST00000645076.1:c.3685C>A
ENST00000645417.1:c.1778C>A
ENST00000645744.1:c.*4275C>A	ENSP00000494564.1:n.*4275C>A
ENST00000645760.1:c.5011C>A
ENST00000645884.1:c.*1873C>A	ENSP00000495516.1:n.*1873C>A
ENST00000646003.1:c.*2612C>A	ENSP00000495259.1:n.*2612C>A
ENST00000646207.1:c.*3427C>A	ENSP00000495025.1:n.*3427C>A
ENST00000646276.1:c.*3994C>A	ENSP00000496070.1:n.*3994C>A
ENST00000646592.1:c.3896C>A
ENST00000646902.1:c.4557C>A	ENSP00000494101.1:p.Arg1519=
ENST00000646993.1:c.*3028C>A	ENSP00000493720.1:n.*3028C>A
ENST00000647015.1:c.4341C>A	ENSP00000495389.1:p.Arg1447=
ENST00000647086.1:c.*4176C>A	ENSP00000493677.1:n.*4176C>A
ENST00000647158.1:c.*2877C>A	ENSP00000495744.1:n.*2877C>A
ENST00000302539.8:c.4593C>A	ENSP00000303960.4:p.Arg1531=
ENST00000389817.7:c.4590C>A	ENSP00000374467.3:p.Arg1530=
ENST00000525022.1:n.485C>A
ENST00000526037.5:n.350C>A
ENST00000526168.5:c.378C>A
ENST00000531642.5:c.621C>A
NM_000352.4:c.4590C>A	NP_000343.2:p.Arg1530=
NM_001287174.1:c.4593C>A	NP_001274103.1:p.Arg1531=
XM_011520331.1:c.4590C>A	XP_011518633.1:p.Arg1530=
XM_011520333.1:c.3090C>A	XP_011518635.1:p.Arg1030=
XR_930890.1:n.4552C>A
NM_001351295.1:c.4656C>A	NP_001338224.1:p.Arg1552=
NM_001351296.1:c.4590C>A	NP_001338225.1:p.Arg1530=
NM_001351297.1:c.4587C>A	NP_001338226.1:p.Arg1529=
NR_147094.1:n.4885C>A
XM_017018197.2:c.4659C>A	XP_016873686.1:p.Arg1553=
XM_017018199.1:c.4656C>A	XP_016873688.1:p.Arg1552=
XM_017018202.1:c.3156C>A	XP_016873691.1:p.Arg1052=
XM_017018204.1:c.2547C>A	XP_016873693.1:p.Arg849=
XM_024448668.1:c.2958C>A	XP_024304436.1:p.Arg986=
XR_001747945.2:n.4627C>A
XR_001747946.2:n.4558C>A
XR_002957189.1:n.6341C>A
NM_000352.6:c.4590C>A MANE Select	NP_000343.2:p.Arg1530=
NM_001287174.2:c.4593C>A	NP_001274103.1:p.Arg1531=
NM_001351295.2:c.4656C>A	NP_001338224.1:p.Arg1552=
NM_001351296.2:c.4590C>A	NP_001338225.1:p.Arg1530=
NM_001351297.2:c.4587C>A	NP_001338226.1:p.Arg1529=
NR_147094.2:n.4885C>A
NM_001287174.3:c.4593C>A	NP_001274103.1:p.Arg1531=