Canonical Allele Identifier: CA473298090

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415882G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394335G>C , CM000673.2:g.17394335G>C	GRCh38
NC_000011.9:g.17415882G>C , CM000673.1:g.17415882G>C	GRCh37
NC_000011.8:g.17372458G>C	NCBI36
NG_008867.1:g.87568C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4077C>G
ENST00000526037.6:n.411C>G
ENST00000528374.2:c.1067C>G
ENST00000529967.6:n.2815C>G
ENST00000532220.2:n.3709C>G
ENST00000642611.2:n.5809C>G
ENST00000644057.2:n.1052C>G
ENST00000645004.2:n.1975C>G
ENST00000682051.1:n.4638C>G
ENST00000682110.1:n.4691C>G
ENST00000682140.1:c.*262C>G	ENSP00000507829.1:n.*262C>G
ENST00000682185.1:n.5781C>G
ENST00000682204.1:c.*2614C>G	ENSP00000507094.1:n.*2614C>G
ENST00000682215.1:n.5058C>G
ENST00000682288.1:c.*2907C>G	ENSP00000507506.1:n.*2907C>G
ENST00000682442.1:n.4911C>G
ENST00000682528.1:n.4768C>G
ENST00000682673.1:n.4635C>G
ENST00000682805.1:n.5096C>G
ENST00000682965.1:c.*898C>G	ENSP00000508229.1:n.*898C>G
ENST00000683093.1:n.5671C>G
ENST00000683136.1:c.4359C>G	ENSP00000507768.1:p.Ala1453=
ENST00000683153.1:n.4733C>G
ENST00000683365.1:n.4793C>G
ENST00000683377.1:n.4587C>G
ENST00000683456.1:c.*1613C>G	ENSP00000508318.1:n.*1613C>G
ENST00000683522.1:n.4773C>G
ENST00000683562.1:c.*2541C>G	ENSP00000508265.1:n.*2541C>G
ENST00000683693.1:n.6152C>G
ENST00000683725.1:c.4372C>G	ENSP00000507496.1:p.Pro1458Ala
ENST00000684010.1:n.4686C>G
ENST00000684014.1:n.663C>G
ENST00000684157.1:n.5676C>G
ENST00000684253.1:n.4594C>G
ENST00000684288.1:c.*2648C>G	ENSP00000507143.1:n.*2648C>G
ENST00000684313.1:n.4123C>G
ENST00000684332.1:n.4764C>G
ENST00000684371.1:n.4797C>G
ENST00000684404.1:n.5719C>G
ENST00000684442.1:n.4915C>G
ENST00000684555.1:c.*2688C>G	ENSP00000507705.1:n.*2688C>G
ENST00000684571.1:c.4317C>G	ENSP00000506935.1:p.Ala1439=
ENST00000684593.1:c.*4181C>G	ENSP00000507005.1:n.*4181C>G
ENST00000684711.1:c.*2872C>G	ENSP00000506841.1:n.*2872C>G
ENST00000302539.9:c.4479C>G	ENSP00000303960.4:p.Ala1493=
ENST00000389817.8:c.4476C>G MANE Select	ENSP00000374467.4:p.Ala1492=
ENST00000642271.1:c.4473C>G	ENSP00000493749.1:p.Ala1491=
ENST00000642579.1:c.2530C>G
ENST00000642611.1:n.5694C>G
ENST00000642902.1:c.4258C>G
ENST00000643260.1:c.4476C>G	ENSP00000494450.1:p.Ala1492=
ENST00000643562.1:c.*2598C>G	ENSP00000496124.1:n.*2598C>G
ENST00000643925.1:c.3116C>G
ENST00000644057.1:n.635C>G
ENST00000644484.1:c.*3862C>G	ENSP00000493558.1:n.*3862C>G
ENST00000644675.1:c.*2648C>G	ENSP00000494567.1:n.*2648C>G
ENST00000644757.1:c.*3203-1355C>G	ENSP00000495085.1:n.*3203-1355C>G
ENST00000644772.1:c.4542C>G	ENSP00000494321.1:p.Ala1514=
ENST00000645004.1:n.2169C>G
ENST00000645076.1:c.3571C>G
ENST00000645417.1:c.1664C>G
ENST00000645744.1:c.*4161C>G	ENSP00000494564.1:n.*4161C>G
ENST00000645760.1:c.4897C>G
ENST00000645884.1:c.*1759C>G	ENSP00000495516.1:n.*1759C>G
ENST00000646003.1:c.*2498C>G	ENSP00000495259.1:n.*2498C>G
ENST00000646207.1:c.*3313C>G	ENSP00000495025.1:n.*3313C>G
ENST00000646276.1:c.*3880C>G	ENSP00000496070.1:n.*3880C>G
ENST00000646592.1:c.3782C>G
ENST00000646902.1:c.4443C>G	ENSP00000494101.1:p.Ala1481=
ENST00000646993.1:c.*2914C>G	ENSP00000493720.1:n.*2914C>G
ENST00000647013.1:c.4482C>G	ENSP00000496741.1:n.4482C>G
ENST00000647015.1:c.4227C>G	ENSP00000495389.1:p.Ala1409=
ENST00000647086.1:c.*4062C>G	ENSP00000493677.1:n.*4062C>G
ENST00000647158.1:c.*2763C>G	ENSP00000495744.1:n.*2763C>G
ENST00000302539.8:c.4479C>G	ENSP00000303960.4:p.Ala1493=
ENST00000389817.7:c.4476C>G	ENSP00000374467.3:p.Ala1492=
ENST00000525022.1:n.371C>G
ENST00000526037.5:n.236C>G
ENST00000526168.5:c.264C>G
ENST00000531642.5:c.507C>G
NM_000352.4:c.4476C>G	NP_000343.2:p.Ala1492=
NM_001287174.1:c.4479C>G	NP_001274103.1:p.Ala1493=
XM_011520331.1:c.4476C>G	XP_011518633.1:p.Ala1492=
XM_011520332.1:c.4375C>G	XP_011518634.1:p.Pro1459Ala
XM_011520333.1:c.2976C>G	XP_011518635.1:p.Ala992=
XR_930890.1:n.4438C>G
NM_001351295.1:c.4542C>G	NP_001338224.1:p.Ala1514=
NM_001351296.1:c.4476C>G	NP_001338225.1:p.Ala1492=
NM_001351297.1:c.4473C>G	NP_001338226.1:p.Ala1491=
NR_147094.1:n.4771C>G
XM_017018197.2:c.4545C>G	XP_016873686.1:p.Ala1515=
XM_017018199.1:c.4542C>G	XP_016873688.1:p.Ala1514=
XM_017018201.2:c.4441C>G	XP_016873690.1:p.Pro1481Ala
XM_017018202.1:c.3042C>G	XP_016873691.1:p.Ala1014=
XM_017018204.1:c.2433C>G	XP_016873693.1:p.Ala811=
XM_024448668.1:c.2844C>G	XP_024304436.1:p.Ala948=
XR_001747945.2:n.4513C>G
XR_001747946.2:n.4444C>G
XR_002957189.1:n.6227C>G
NM_000352.6:c.4476C>G MANE Select	NP_000343.2:p.Ala1492=
NM_001287174.2:c.4479C>G	NP_001274103.1:p.Ala1493=
NM_001351295.2:c.4542C>G	NP_001338224.1:p.Ala1514=
NM_001351296.2:c.4476C>G	NP_001338225.1:p.Ala1492=
NM_001351297.2:c.4473C>G	NP_001338226.1:p.Ala1491=
NR_147094.2:n.4771C>G
NM_001287174.3:c.4479C>G	NP_001274103.1:p.Ala1493=