Canonical Allele Identifier: CA473299721

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426184G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404637G>C , CM000673.2:g.17404637G>C	GRCh38
NC_000011.9:g.17426184G>C , CM000673.1:g.17426184G>C	GRCh37
NC_000011.8:g.17382760G>C	NCBI36
NG_008867.1:g.77266C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3001C>G
ENST00000528374.2:c.11C>G
ENST00000529967.6:n.1771C>G
ENST00000532220.2:n.1164C>G
ENST00000642611.2:n.3501C>G
ENST00000645004.2:n.931C>G
ENST00000682051.1:n.3448C>G
ENST00000682110.1:n.3501C>G
ENST00000682140.1:c.3429C>G	ENSP00000507829.1:p.Arg1143=
ENST00000682185.1:n.4737C>G
ENST00000682204.1:c.*1570C>G	ENSP00000507094.1:n.*1570C>G
ENST00000682215.1:n.3498C>G
ENST00000682288.1:c.*1863C>G	ENSP00000507506.1:n.*1863C>G
ENST00000682442.1:n.3721C>G
ENST00000682528.1:n.3578C>G
ENST00000682673.1:n.3445C>G
ENST00000682805.1:n.3498C>G
ENST00000682965.1:c.3396+857C>G	ENSP00000508229.1:n.3396+857C>G
ENST00000683093.1:n.3600C>G
ENST00000683136.1:c.3429C>G	ENSP00000507768.1:p.Arg1143=
ENST00000683153.1:n.3657C>G
ENST00000683365.1:n.3603C>G
ENST00000683377.1:n.3501C>G
ENST00000683456.1:c.*569C>G	ENSP00000508318.1:n.*569C>G
ENST00000683522.1:n.3501C>G
ENST00000683562.1:c.*1601C>G	ENSP00000508265.1:n.*1601C>G
ENST00000683693.1:n.3578C>G
ENST00000683725.1:c.3432C>G	ENSP00000507496.1:p.Arg1144=
ENST00000684010.1:n.3496C>G
ENST00000684157.1:n.3501C>G
ENST00000684253.1:n.3404C>G
ENST00000684288.1:c.*1604C>G	ENSP00000507143.1:n.*1604C>G
ENST00000684313.1:n.2933C>G
ENST00000684332.1:n.3574C>G
ENST00000684371.1:n.3607C>G
ENST00000684404.1:n.3544C>G
ENST00000684442.1:n.3501C>G
ENST00000684555.1:c.*1644C>G	ENSP00000507705.1:n.*1644C>G
ENST00000684571.1:c.3273C>G	ENSP00000506935.1:p.Arg1091=
ENST00000684593.1:c.*3137C>G	ENSP00000507005.1:n.*3137C>G
ENST00000684711.1:c.*1828C>G	ENSP00000506841.1:n.*1828C>G
ENST00000302539.9:c.3435C>G	ENSP00000303960.4:p.Arg1145=
ENST00000389817.8:c.3432C>G MANE Select	ENSP00000374467.4:p.Arg1144=
ENST00000642271.1:c.3429C>G	ENSP00000493749.1:p.Arg1143=
ENST00000642579.1:c.1516C>G
ENST00000642611.1:n.3386C>G
ENST00000642902.1:c.3214C>G
ENST00000643260.1:c.3432C>G	ENSP00000494450.1:p.Arg1144=
ENST00000643562.1:c.*1408C>G	ENSP00000496124.1:n.*1408C>G
ENST00000643925.1:c.1556C>G
ENST00000644447.1:c.1788C>G	ENSP00000496282.1:p.Arg596=
ENST00000644484.1:c.*1687C>G	ENSP00000493558.1:n.*1687C>G
ENST00000644675.1:c.*1604C>G	ENSP00000494567.1:n.*1604C>G
ENST00000644757.1:c.*1717C>G	ENSP00000495085.1:n.*1717C>G
ENST00000644772.1:c.3498C>G	ENSP00000494321.1:p.Arg1166=
ENST00000645004.1:n.571C>G
ENST00000645076.1:c.2631C>G
ENST00000645417.1:c.598C>G
ENST00000645744.1:c.*1696C>G	ENSP00000494564.1:n.*1696C>G
ENST00000645760.1:c.3707C>G
ENST00000645884.1:c.*569C>G	ENSP00000495516.1:n.*569C>G
ENST00000646003.1:c.*1388C>G	ENSP00000495259.1:n.*1388C>G
ENST00000646207.1:c.*1899C>G	ENSP00000495025.1:n.*1899C>G
ENST00000646276.1:c.*1705C>G	ENSP00000496070.1:n.*1705C>G
ENST00000646592.1:c.2738C>G
ENST00000646902.1:c.3429C>G	ENSP00000494101.1:p.Arg1143=
ENST00000646993.1:c.*1828C>G	ENSP00000493720.1:n.*1828C>G
ENST00000647013.1:c.3438C>G	ENSP00000496741.1:n.3438C>G
ENST00000647015.1:c.3183C>G	ENSP00000495389.1:p.Arg1061=
ENST00000647086.1:c.*3162C>G	ENSP00000493677.1:n.*3162C>G
ENST00000647158.1:c.*1573C>G	ENSP00000495744.1:n.*1573C>G
ENST00000302539.8:c.3435C>G	ENSP00000303960.4:p.Arg1145=
ENST00000389817.7:c.3432C>G	ENSP00000374467.3:p.Arg1144=
ENST00000524561.1:n.564C>G
ENST00000527905.5:c.*308C>G	ENSP00000431653.1:n.*308C>G
NM_000352.4:c.3432C>G	NP_000343.2:p.Arg1144=
NM_001287174.1:c.3435C>G	NP_001274103.1:p.Arg1145=
XM_011520331.1:c.3432C>G	XP_011518633.1:p.Arg1144=
XM_011520332.1:c.3435C>G	XP_011518634.1:p.Arg1145=
XM_011520333.1:c.1932C>G	XP_011518635.1:p.Arg644=
XR_930890.1:n.3498C>G
XR_930892.1:n.3398C>G
XR_930893.1:n.3395C>G
NM_001351295.1:c.3498C>G	NP_001338224.1:p.Arg1166=
NM_001351296.1:c.3432C>G	NP_001338225.1:p.Arg1144=
NM_001351297.1:c.3429C>G	NP_001338226.1:p.Arg1143=
NR_147094.1:n.3581C>G
XM_017018197.2:c.3501C>G	XP_016873686.1:p.Arg1167=
XM_017018199.1:c.3498C>G	XP_016873688.1:p.Arg1166=
XM_017018201.2:c.3501C>G	XP_016873690.1:p.Arg1167=
XM_017018202.1:c.1998C>G	XP_016873691.1:p.Arg666=
XM_017018204.1:c.1389C>G	XP_016873693.1:p.Arg463=
XM_024448668.1:c.1800C>G	XP_024304436.1:p.Arg600=
XR_001747945.2:n.3573C>G
XR_001747946.2:n.3504C>G
XR_002957189.1:n.3653C>G
NM_000352.6:c.3432C>G MANE Select	NP_000343.2:p.Arg1144=
NM_001287174.2:c.3435C>G	NP_001274103.1:p.Arg1145=
NM_001351295.2:c.3498C>G	NP_001338224.1:p.Arg1166=
NM_001351296.2:c.3432C>G	NP_001338225.1:p.Arg1144=
NM_001351297.2:c.3429C>G	NP_001338226.1:p.Arg1143=
NR_147094.2:n.3581C>G
NM_001287174.3:c.3435C>G	NP_001274103.1:p.Arg1145=