Canonical Allele Identifier: CA473298441

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1089301
• ClinVar RCV Id: RCV001408066
• dbSNP Id: rs1213265524
• gnomAD v2: 11-17418481-G-A
• MyVariant Identifiers: chr11:g.17418481G>A (hg19) ; chr11:g.17396934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396934G>A , CM000673.2:g.17396934G>A	GRCh38
NC_000011.9:g.17418481G>A , CM000673.1:g.17418481G>A	GRCh37
NC_000011.8:g.17375057G>A	NCBI36
NG_008867.1:g.84969C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3702C>T
ENST00000528374.2:c.692C>T
ENST00000529967.6:n.2440C>T
ENST00000532220.2:n.2349C>T
ENST00000642611.2:n.4316C>T
ENST00000644057.2:n.544C>T
ENST00000645004.2:n.1600C>T
ENST00000682051.1:n.4263C>T
ENST00000682110.1:n.4316C>T
ENST00000682140.1:c.3985+259C>T	ENSP00000507829.1:n.3985+259C>T
ENST00000682185.1:n.5406C>T
ENST00000682204.1:c.*2239C>T	ENSP00000507094.1:n.*2239C>T
ENST00000682215.1:n.4683C>T
ENST00000682288.1:c.*2532C>T	ENSP00000507506.1:n.*2532C>T
ENST00000682442.1:n.4536C>T
ENST00000682528.1:n.4393C>T
ENST00000682673.1:n.4260C>T
ENST00000682805.1:n.4683C>T
ENST00000682965.1:c.*523C>T	ENSP00000508229.1:n.*523C>T
ENST00000683093.1:n.4415C>T
ENST00000683136.1:c.3984C>T	ENSP00000507768.1:p.Leu1328=
ENST00000683153.1:n.4358C>T
ENST00000683365.1:n.4418C>T
ENST00000683377.1:n.4316C>T
ENST00000683456.1:c.*1238C>T	ENSP00000508318.1:n.*1238C>T
ENST00000683522.1:n.4316C>T
ENST00000683562.1:c.*2270C>T	ENSP00000508265.1:n.*2270C>T
ENST00000683693.1:n.4763C>T
ENST00000683725.1:c.4101C>T	ENSP00000507496.1:p.Leu1367=
ENST00000684010.1:n.4311C>T
ENST00000684157.1:n.4316C>T
ENST00000684253.1:n.4219C>T
ENST00000684288.1:c.*2273C>T	ENSP00000507143.1:n.*2273C>T
ENST00000684313.1:n.3748C>T
ENST00000684332.1:n.4389C>T
ENST00000684371.1:n.4422C>T
ENST00000684404.1:n.4359C>T
ENST00000684442.1:n.4540C>T
ENST00000684555.1:c.*2313C>T	ENSP00000507705.1:n.*2313C>T
ENST00000684571.1:c.3942C>T	ENSP00000506935.1:p.Leu1314=
ENST00000684593.1:c.*3806C>T	ENSP00000507005.1:n.*3806C>T
ENST00000684711.1:c.*2497C>T	ENSP00000506841.1:n.*2497C>T
ENST00000302539.9:c.4104C>T	ENSP00000303960.4:p.Leu1368=
ENST00000389817.8:c.4101C>T MANE Select	ENSP00000374467.4:p.Leu1367=
ENST00000642271.1:c.4098C>T	ENSP00000493749.1:p.Leu1366=
ENST00000642579.1:c.2155C>T
ENST00000642611.1:n.4201C>T
ENST00000642902.1:c.3883C>T
ENST00000643260.1:c.4101C>T	ENSP00000494450.1:p.Leu1367=
ENST00000643562.1:c.*2223C>T	ENSP00000496124.1:n.*2223C>T
ENST00000643925.1:c.2741C>T
ENST00000644057.1:n.178C>T
ENST00000644484.1:c.*2502C>T	ENSP00000493558.1:n.*2502C>T
ENST00000644675.1:c.*2273C>T	ENSP00000494567.1:n.*2273C>T
ENST00000644757.1:c.*2532C>T	ENSP00000495085.1:n.*2532C>T
ENST00000644772.1:c.4167C>T	ENSP00000494321.1:p.Leu1389=
ENST00000645004.1:n.1756C>T
ENST00000645076.1:c.3300C>T
ENST00000645417.1:c.1289C>T
ENST00000645744.1:c.*2881C>T	ENSP00000494564.1:n.*2881C>T
ENST00000645760.1:c.4522C>T
ENST00000645884.1:c.*1384C>T	ENSP00000495516.1:n.*1384C>T
ENST00000646003.1:c.*2203C>T	ENSP00000495259.1:n.*2203C>T
ENST00000646207.1:c.*2938C>T	ENSP00000495025.1:n.*2938C>T
ENST00000646276.1:c.*2520C>T	ENSP00000496070.1:n.*2520C>T
ENST00000646592.1:c.3407C>T
ENST00000646902.1:c.4068C>T	ENSP00000494101.1:p.Leu1356=
ENST00000646993.1:c.*2643C>T	ENSP00000493720.1:n.*2643C>T
ENST00000647013.1:c.4107C>T	ENSP00000496741.1:n.4107C>T
ENST00000647015.1:c.3852C>T	ENSP00000495389.1:p.Leu1284=
ENST00000647086.1:c.*3687C>T	ENSP00000493677.1:n.*3687C>T
ENST00000647158.1:c.*2388C>T	ENSP00000495744.1:n.*2388C>T
ENST00000302539.8:c.4104C>T	ENSP00000303960.4:p.Leu1368=
ENST00000389817.7:c.4101C>T	ENSP00000374467.3:p.Leu1367=
ENST00000527905.5:c.*1123C>T	ENSP00000431653.1:n.*1123C>T
ENST00000528374.1:c.583C>T
ENST00000531891.1:c.439C>T
ENST00000532220.1:n.575C>T
NM_000352.4:c.4101C>T	NP_000343.2:p.Leu1367=
NM_001287174.1:c.4104C>T	NP_001274103.1:p.Leu1368=
XM_011520331.1:c.4101C>T	XP_011518633.1:p.Leu1367=
XM_011520332.1:c.4104C>T	XP_011518634.1:p.Leu1368=
XM_011520333.1:c.2601C>T	XP_011518635.1:p.Leu867=
XR_930890.1:n.4167C>T
NM_001351295.1:c.4167C>T	NP_001338224.1:p.Leu1389=
NM_001351296.1:c.4101C>T	NP_001338225.1:p.Leu1367=
NM_001351297.1:c.4098C>T	NP_001338226.1:p.Leu1366=
NR_147094.1:n.4396C>T
XM_017018197.2:c.4170C>T	XP_016873686.1:p.Leu1390=
XM_017018199.1:c.4167C>T	XP_016873688.1:p.Leu1389=
XM_017018201.2:c.4170C>T	XP_016873690.1:p.Leu1390=
XM_017018202.1:c.2667C>T	XP_016873691.1:p.Leu889=
XM_017018204.1:c.2058C>T	XP_016873693.1:p.Leu686=
XM_024448668.1:c.2469C>T	XP_024304436.1:p.Leu823=
XR_001747945.2:n.4242C>T
XR_001747946.2:n.4173C>T
XR_002957189.1:n.4838C>T
NM_000352.6:c.4101C>T MANE Select	NP_000343.2:p.Leu1367=
NM_001287174.2:c.4104C>T	NP_001274103.1:p.Leu1368=
NM_001351295.2:c.4167C>T	NP_001338224.1:p.Leu1389=
NM_001351296.2:c.4101C>T	NP_001338225.1:p.Leu1367=
NM_001351297.2:c.4098C>T	NP_001338226.1:p.Leu1366=
NR_147094.2:n.4396C>T
NM_001287174.3:c.4104C>T	NP_001274103.1:p.Leu1368=