Canonical Allele Identifier: CA473298038

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393739-C-A
• MyVariant Identifiers: chr11:g.17415286C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393739C>A , CM000673.2:g.17393739C>A	GRCh38
NC_000011.9:g.17415286C>A , CM000673.1:g.17415286C>A	GRCh37
NC_000011.8:g.17371862C>A	NCBI36
NG_008867.1:g.88164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4167G>T
ENST00000526037.6:n.501G>T
ENST00000528374.2:c.1157G>T
ENST00000529967.6:n.2905G>T
ENST00000532220.2:n.3799G>T
ENST00000642611.2:n.5899G>T
ENST00000644057.2:n.1142G>T
ENST00000645004.2:n.2065G>T
ENST00000682051.1:n.4728G>T
ENST00000682110.1:n.4781G>T
ENST00000682140.1:c.*352G>T	ENSP00000507829.1:n.*352G>T
ENST00000682185.1:n.5871G>T
ENST00000682204.1:c.*2704G>T	ENSP00000507094.1:n.*2704G>T
ENST00000682215.1:n.5148G>T
ENST00000682288.1:c.*2997G>T	ENSP00000507506.1:n.*2997G>T
ENST00000682442.1:n.5001G>T
ENST00000682528.1:n.4858G>T
ENST00000682673.1:n.4725G>T
ENST00000682805.1:n.5186G>T
ENST00000682965.1:c.*988G>T	ENSP00000508229.1:n.*988G>T
ENST00000683093.1:n.5761G>T
ENST00000683136.1:c.4449G>T	ENSP00000507768.1:p.Val1483=
ENST00000683153.1:n.4823G>T
ENST00000683365.1:n.4883G>T
ENST00000683377.1:n.4677G>T
ENST00000683456.1:c.*1703G>T	ENSP00000508318.1:n.*1703G>T
ENST00000683522.1:n.4863G>T
ENST00000683562.1:c.*2631G>T	ENSP00000508265.1:n.*2631G>T
ENST00000683693.1:n.6242G>T
ENST00000683725.1:c.*31G>T	ENSP00000507496.1:n.*31G>T
ENST00000684010.1:n.4776G>T
ENST00000684014.1:n.753G>T
ENST00000684157.1:n.5766G>T
ENST00000684253.1:n.4684G>T
ENST00000684288.1:c.*2738G>T	ENSP00000507143.1:n.*2738G>T
ENST00000684313.1:n.4213G>T
ENST00000684332.1:n.4854G>T
ENST00000684371.1:n.4887G>T
ENST00000684404.1:n.5809G>T
ENST00000684442.1:n.5005G>T
ENST00000684555.1:c.*2778G>T	ENSP00000507705.1:n.*2778G>T
ENST00000684571.1:c.4407G>T	ENSP00000506935.1:p.Val1469=
ENST00000684593.1:c.*4271G>T	ENSP00000507005.1:n.*4271G>T
ENST00000684711.1:c.*2962G>T	ENSP00000506841.1:n.*2962G>T
ENST00000302539.9:c.4569G>T	ENSP00000303960.4:p.Val1523=
ENST00000389817.8:c.4566G>T MANE Select	ENSP00000374467.4:p.Val1522=
ENST00000642271.1:c.4563G>T	ENSP00000493749.1:p.Val1521=
ENST00000642579.1:c.2620G>T
ENST00000642611.1:n.5784G>T
ENST00000642902.1:c.4348G>T
ENST00000643260.1:c.4566G>T	ENSP00000494450.1:p.Val1522=
ENST00000643562.1:c.*2688G>T	ENSP00000496124.1:n.*2688G>T
ENST00000643925.1:c.3185+527G>T
ENST00000644057.1:n.725G>T
ENST00000644484.1:c.*3952G>T	ENSP00000493558.1:n.*3952G>T
ENST00000644675.1:c.*2738G>T	ENSP00000494567.1:n.*2738G>T
ENST00000644757.1:c.*3203-759G>T	ENSP00000495085.1:n.*3203-759G>T
ENST00000644772.1:c.4632G>T	ENSP00000494321.1:p.Val1544=
ENST00000645004.1:n.2259G>T
ENST00000645076.1:c.3661G>T
ENST00000645417.1:c.1754G>T
ENST00000645744.1:c.*4251G>T	ENSP00000494564.1:n.*4251G>T
ENST00000645760.1:c.4987G>T
ENST00000645884.1:c.*1849G>T	ENSP00000495516.1:n.*1849G>T
ENST00000646003.1:c.*2588G>T	ENSP00000495259.1:n.*2588G>T
ENST00000646207.1:c.*3403G>T	ENSP00000495025.1:n.*3403G>T
ENST00000646276.1:c.*3970G>T	ENSP00000496070.1:n.*3970G>T
ENST00000646592.1:c.3872G>T
ENST00000646902.1:c.4533G>T	ENSP00000494101.1:p.Val1511=
ENST00000646993.1:c.*3004G>T	ENSP00000493720.1:n.*3004G>T
ENST00000647015.1:c.4317G>T	ENSP00000495389.1:p.Val1439=
ENST00000647086.1:c.*4152G>T	ENSP00000493677.1:n.*4152G>T
ENST00000647158.1:c.*2853G>T	ENSP00000495744.1:n.*2853G>T
ENST00000302539.8:c.4569G>T	ENSP00000303960.4:p.Val1523=
ENST00000389817.7:c.4566G>T	ENSP00000374467.3:p.Val1522=
ENST00000525022.1:n.461G>T
ENST00000526037.5:n.326G>T
ENST00000526168.5:c.354G>T
ENST00000531642.5:c.597G>T
NM_000352.4:c.4566G>T	NP_000343.2:p.Val1522=
NM_001287174.1:c.4569G>T	NP_001274103.1:p.Val1523=
XM_011520331.1:c.4566G>T	XP_011518633.1:p.Val1522=
XM_011520333.1:c.3066G>T	XP_011518635.1:p.Val1022=
XR_930890.1:n.4528G>T
NM_001351295.1:c.4632G>T	NP_001338224.1:p.Val1544=
NM_001351296.1:c.4566G>T	NP_001338225.1:p.Val1522=
NM_001351297.1:c.4563G>T	NP_001338226.1:p.Val1521=
NR_147094.1:n.4861G>T
XM_017018197.2:c.4635G>T	XP_016873686.1:p.Val1545=
XM_017018199.1:c.4632G>T	XP_016873688.1:p.Val1544=
XM_017018202.1:c.3132G>T	XP_016873691.1:p.Val1044=
XM_017018204.1:c.2523G>T	XP_016873693.1:p.Val841=
XM_024448668.1:c.2934G>T	XP_024304436.1:p.Val978=
XR_001747945.2:n.4603G>T
XR_001747946.2:n.4534G>T
XR_002957189.1:n.6317G>T
NM_000352.6:c.4566G>T MANE Select	NP_000343.2:p.Val1522=
NM_001287174.2:c.4569G>T	NP_001274103.1:p.Val1523=
NM_001351295.2:c.4632G>T	NP_001338224.1:p.Val1544=
NM_001351296.2:c.4566G>T	NP_001338225.1:p.Val1522=
NM_001351297.2:c.4563G>T	NP_001338226.1:p.Val1521=
NR_147094.2:n.4861G>T
NM_001287174.3:c.4569G>T	NP_001274103.1:p.Val1523=