Canonical Allele Identifier: CA379801445

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1729810
• ClinVar RCV Id: RCV002326137
• gnomAD v4: 11-17406662-G-A
• MyVariant Identifiers: chr11:g.17428209G>A (hg19) ; chr11:g.17406662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406662G>A , CM000673.2:g.17406662G>A	GRCh38
NC_000011.9:g.17428209G>A , CM000673.1:g.17428209G>A	GRCh37
NC_000011.8:g.17384785G>A	NCBI36
NG_008867.1:g.75241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2858C>T
ENST00000529967.6:n.1628C>T
ENST00000532220.2:n.1021C>T
ENST00000642611.2:n.3358C>T
ENST00000645004.2:n.788C>T
ENST00000682051.1:n.3305C>T
ENST00000682110.1:n.3358C>T
ENST00000682140.1:c.3286C>T	ENSP00000507829.1:p.His1096Tyr
ENST00000682185.1:n.4594C>T
ENST00000682204.1:c.*1427C>T	ENSP00000507094.1:n.*1427C>T
ENST00000682215.1:n.3355C>T
ENST00000682288.1:c.*1720C>T	ENSP00000507506.1:n.*1720C>T
ENST00000682442.1:n.3578C>T
ENST00000682528.1:n.3435C>T
ENST00000682673.1:n.3302C>T
ENST00000682805.1:n.3355C>T
ENST00000682965.1:c.3286C>T	ENSP00000508229.1:p.His1096Tyr
ENST00000683093.1:n.3457C>T
ENST00000683136.1:c.3286C>T	ENSP00000507768.1:p.His1096Tyr
ENST00000683153.1:n.3514C>T
ENST00000683365.1:n.3460C>T
ENST00000683377.1:n.3358C>T
ENST00000683456.1:c.*426C>T	ENSP00000508318.1:n.*426C>T
ENST00000683522.1:n.3358C>T
ENST00000683562.1:c.*1458C>T	ENSP00000508265.1:n.*1458C>T
ENST00000683693.1:n.3435C>T
ENST00000683725.1:c.3289C>T	ENSP00000507496.1:p.His1097Tyr
ENST00000684010.1:n.3353C>T
ENST00000684157.1:n.3358C>T
ENST00000684253.1:n.3261C>T
ENST00000684288.1:c.*1461C>T	ENSP00000507143.1:n.*1461C>T
ENST00000684313.1:n.2790C>T
ENST00000684332.1:n.3431C>T
ENST00000684371.1:n.3464C>T
ENST00000684404.1:n.3401C>T
ENST00000684442.1:n.3358C>T
ENST00000684555.1:c.*1501C>T	ENSP00000507705.1:n.*1501C>T
ENST00000684571.1:c.3130C>T	ENSP00000506935.1:p.His1044Tyr
ENST00000684593.1:c.*2994C>T	ENSP00000507005.1:n.*2994C>T
ENST00000684711.1:c.*1685C>T	ENSP00000506841.1:n.*1685C>T
ENST00000302539.9:c.3292C>T	ENSP00000303960.4:p.His1098Tyr
ENST00000389817.8:c.3289C>T MANE Select	ENSP00000374467.4:p.His1097Tyr
ENST00000642271.1:c.3286C>T	ENSP00000493749.1:p.His1096Tyr
ENST00000642579.1:c.1373C>T
ENST00000642611.1:n.3243C>T
ENST00000642902.1:c.3071C>T
ENST00000643260.1:c.3289C>T	ENSP00000494450.1:p.His1097Tyr
ENST00000643562.1:c.*1265C>T	ENSP00000496124.1:n.*1265C>T
ENST00000643925.1:c.1413C>T
ENST00000644447.1:c.1645C>T	ENSP00000496282.1:p.His549Tyr
ENST00000644484.1:c.*1544C>T	ENSP00000493558.1:n.*1544C>T
ENST00000644542.1:c.*3093C>T	ENSP00000495532.1:n.*3093C>T
ENST00000644675.1:c.*1461C>T	ENSP00000494567.1:n.*1461C>T
ENST00000644757.1:c.*1574C>T	ENSP00000495085.1:n.*1574C>T
ENST00000644772.1:c.3355C>T	ENSP00000494321.1:p.His1119Tyr
ENST00000645004.1:n.428C>T
ENST00000645076.1:c.2488C>T
ENST00000645417.1:c.455C>T
ENST00000645744.1:c.*1553C>T	ENSP00000494564.1:n.*1553C>T
ENST00000645760.1:c.3564C>T
ENST00000645884.1:c.*426C>T	ENSP00000495516.1:n.*426C>T
ENST00000646003.1:c.*1245C>T	ENSP00000495259.1:n.*1245C>T
ENST00000646207.1:c.*1756C>T	ENSP00000495025.1:n.*1756C>T
ENST00000646276.1:c.*1562C>T	ENSP00000496070.1:n.*1562C>T
ENST00000646592.1:c.2595C>T
ENST00000646902.1:c.3286C>T	ENSP00000494101.1:p.His1096Tyr
ENST00000646993.1:c.*1685C>T	ENSP00000493720.1:n.*1685C>T
ENST00000647013.1:c.3295C>T	ENSP00000496741.1:n.3295C>T
ENST00000647015.1:c.3040C>T	ENSP00000495389.1:p.His1014Tyr
ENST00000647086.1:c.*3019C>T	ENSP00000493677.1:n.*3019C>T
ENST00000647158.1:c.*1430C>T	ENSP00000495744.1:n.*1430C>T
ENST00000302539.8:c.3292C>T	ENSP00000303960.4:p.His1098Tyr
ENST00000389817.7:c.3289C>T	ENSP00000374467.3:p.His1097Tyr
ENST00000524561.1:n.421C>T
ENST00000527905.5:c.*165C>T	ENSP00000431653.1:n.*165C>T
NM_000352.4:c.3289C>T	NP_000343.2:p.His1097Tyr
NM_001287174.1:c.3292C>T	NP_001274103.1:p.His1098Tyr
XM_011520331.1:c.3289C>T	XP_011518633.1:p.His1097Tyr
XM_011520332.1:c.3292C>T	XP_011518634.1:p.His1098Tyr
XM_011520333.1:c.1789C>T	XP_011518635.1:p.His597Tyr
XR_930890.1:n.3355C>T
XR_930891.1:n.3355C>T
XR_930892.1:n.3255C>T
XR_930893.1:n.3252C>T
NM_001351295.1:c.3355C>T	NP_001338224.1:p.His1119Tyr
NM_001351296.1:c.3289C>T	NP_001338225.1:p.His1097Tyr
NM_001351297.1:c.3286C>T	NP_001338226.1:p.His1096Tyr
NR_147094.1:n.3438C>T
XM_017018197.2:c.3358C>T	XP_016873686.1:p.His1120Tyr
XM_017018199.1:c.3355C>T	XP_016873688.1:p.His1119Tyr
XM_017018201.2:c.3358C>T	XP_016873690.1:p.His1120Tyr
XM_017018202.1:c.1855C>T	XP_016873691.1:p.His619Tyr
XM_017018204.1:c.1246C>T	XP_016873693.1:p.His416Tyr
XM_024448668.1:c.1657C>T	XP_024304436.1:p.His553Tyr
XR_001747945.2:n.3430C>T
XR_001747946.2:n.3361C>T
XR_002957189.1:n.3510C>T
NM_000352.6:c.3289C>T MANE Select	NP_000343.2:p.His1097Tyr
NM_001287174.2:c.3292C>T	NP_001274103.1:p.His1098Tyr
NM_001351295.2:c.3355C>T	NP_001338224.1:p.His1119Tyr
NM_001351296.2:c.3289C>T	NP_001338225.1:p.His1097Tyr
NM_001351297.2:c.3286C>T	NP_001338226.1:p.His1096Tyr
NR_147094.2:n.3438C>T
NM_001287174.3:c.3292C>T	NP_001274103.1:p.His1098Tyr