Canonical Allele Identifier: CA379790212

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 434046
• ClinVar RCV Id: RCV000504191 ; RCV002244970 ; RCV002274043
• dbSNP Id: rs1554905662
• MyVariant Identifiers: chr11:g.17418473G>A (hg19) ; chr11:g.17396926G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396926G>A , CM000673.2:g.17396926G>A	GRCh38
NC_000011.9:g.17418473G>A , CM000673.1:g.17418473G>A	GRCh37
NC_000011.8:g.17375049G>A	NCBI36
NG_008867.1:g.84977C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3710C>T
ENST00000528374.2:c.700C>T
ENST00000529967.6:n.2448C>T
ENST00000532220.2:n.2357C>T
ENST00000642611.2:n.4324C>T
ENST00000644057.2:n.552C>T
ENST00000645004.2:n.1608C>T
ENST00000682051.1:n.4271C>T
ENST00000682110.1:n.4324C>T
ENST00000682140.1:c.3985+267C>T	ENSP00000507829.1:n.3985+267C>T
ENST00000682185.1:n.5414C>T
ENST00000682204.1:c.*2247C>T	ENSP00000507094.1:n.*2247C>T
ENST00000682215.1:n.4691C>T
ENST00000682288.1:c.*2540C>T	ENSP00000507506.1:n.*2540C>T
ENST00000682442.1:n.4544C>T
ENST00000682528.1:n.4401C>T
ENST00000682673.1:n.4268C>T
ENST00000682805.1:n.4691C>T
ENST00000682965.1:c.*531C>T	ENSP00000508229.1:n.*531C>T
ENST00000683093.1:n.4423C>T
ENST00000683136.1:c.3992C>T	ENSP00000507768.1:p.Pro1331Leu
ENST00000683153.1:n.4366C>T
ENST00000683365.1:n.4426C>T
ENST00000683377.1:n.4324C>T
ENST00000683456.1:c.*1246C>T	ENSP00000508318.1:n.*1246C>T
ENST00000683522.1:n.4324C>T
ENST00000683562.1:c.*2278C>T	ENSP00000508265.1:n.*2278C>T
ENST00000683693.1:n.4771C>T
ENST00000683725.1:c.4109C>T	ENSP00000507496.1:p.Pro1370Leu
ENST00000684010.1:n.4319C>T
ENST00000684157.1:n.4324C>T
ENST00000684253.1:n.4227C>T
ENST00000684288.1:c.*2281C>T	ENSP00000507143.1:n.*2281C>T
ENST00000684313.1:n.3756C>T
ENST00000684332.1:n.4397C>T
ENST00000684371.1:n.4430C>T
ENST00000684404.1:n.4367C>T
ENST00000684442.1:n.4548C>T
ENST00000684555.1:c.*2321C>T	ENSP00000507705.1:n.*2321C>T
ENST00000684571.1:c.3950C>T	ENSP00000506935.1:p.Pro1317Leu
ENST00000684593.1:c.*3814C>T	ENSP00000507005.1:n.*3814C>T
ENST00000684711.1:c.*2505C>T	ENSP00000506841.1:n.*2505C>T
ENST00000302539.9:c.4112C>T	ENSP00000303960.4:p.Pro1371Leu
ENST00000389817.8:c.4109C>T MANE Select	ENSP00000374467.4:p.Pro1370Leu
ENST00000642271.1:c.4106C>T	ENSP00000493749.1:p.Pro1369Leu
ENST00000642579.1:c.2163C>T
ENST00000642611.1:n.4209C>T
ENST00000642902.1:c.3891C>T
ENST00000643260.1:c.4109C>T	ENSP00000494450.1:p.Pro1370Leu
ENST00000643562.1:c.*2231C>T	ENSP00000496124.1:n.*2231C>T
ENST00000643925.1:c.2749C>T
ENST00000644057.1:n.186C>T
ENST00000644484.1:c.*2510C>T	ENSP00000493558.1:n.*2510C>T
ENST00000644675.1:c.*2281C>T	ENSP00000494567.1:n.*2281C>T
ENST00000644757.1:c.*2540C>T	ENSP00000495085.1:n.*2540C>T
ENST00000644772.1:c.4175C>T	ENSP00000494321.1:p.Pro1392Leu
ENST00000645004.1:n.1764C>T
ENST00000645076.1:c.3308C>T
ENST00000645417.1:c.1297C>T
ENST00000645744.1:c.*2889C>T	ENSP00000494564.1:n.*2889C>T
ENST00000645760.1:c.4530C>T
ENST00000645884.1:c.*1392C>T	ENSP00000495516.1:n.*1392C>T
ENST00000646003.1:c.*2211C>T	ENSP00000495259.1:n.*2211C>T
ENST00000646207.1:c.*2946C>T	ENSP00000495025.1:n.*2946C>T
ENST00000646276.1:c.*2528C>T	ENSP00000496070.1:n.*2528C>T
ENST00000646592.1:c.3415C>T
ENST00000646902.1:c.4076C>T	ENSP00000494101.1:p.Pro1359Leu
ENST00000646993.1:c.*2651C>T	ENSP00000493720.1:n.*2651C>T
ENST00000647013.1:c.4115C>T	ENSP00000496741.1:n.4115C>T
ENST00000647015.1:c.3860C>T	ENSP00000495389.1:p.Pro1287Leu
ENST00000647086.1:c.*3695C>T	ENSP00000493677.1:n.*3695C>T
ENST00000647158.1:c.*2396C>T	ENSP00000495744.1:n.*2396C>T
ENST00000302539.8:c.4112C>T	ENSP00000303960.4:p.Pro1371Leu
ENST00000389817.7:c.4109C>T	ENSP00000374467.3:p.Pro1370Leu
ENST00000527905.5:c.*1131C>T	ENSP00000431653.1:n.*1131C>T
ENST00000528374.1:c.591C>T
ENST00000532220.1:n.583C>T
NM_000352.4:c.4109C>T	NP_000343.2:p.Pro1370Leu
NM_001287174.1:c.4112C>T	NP_001274103.1:p.Pro1371Leu
XM_011520331.1:c.4109C>T	XP_011518633.1:p.Pro1370Leu
XM_011520332.1:c.4112C>T	XP_011518634.1:p.Pro1371Leu
XM_011520333.1:c.2609C>T	XP_011518635.1:p.Pro870Leu
XR_930890.1:n.4175C>T
NM_001351295.1:c.4175C>T	NP_001338224.1:p.Pro1392Leu
NM_001351296.1:c.4109C>T	NP_001338225.1:p.Pro1370Leu
NM_001351297.1:c.4106C>T	NP_001338226.1:p.Pro1369Leu
NR_147094.1:n.4404C>T
XM_017018197.2:c.4178C>T	XP_016873686.1:p.Pro1393Leu
XM_017018199.1:c.4175C>T	XP_016873688.1:p.Pro1392Leu
XM_017018201.2:c.4178C>T	XP_016873690.1:p.Pro1393Leu
XM_017018202.1:c.2675C>T	XP_016873691.1:p.Pro892Leu
XM_017018204.1:c.2066C>T	XP_016873693.1:p.Pro689Leu
XM_024448668.1:c.2477C>T	XP_024304436.1:p.Pro826Leu
XR_001747945.2:n.4250C>T
XR_001747946.2:n.4181C>T
XR_002957189.1:n.4846C>T
NM_000352.6:c.4109C>T MANE Select	NP_000343.2:p.Pro1370Leu
NM_001287174.2:c.4112C>T	NP_001274103.1:p.Pro1371Leu
NM_001351295.2:c.4175C>T	NP_001338224.1:p.Pro1392Leu
NM_001351296.2:c.4109C>T	NP_001338225.1:p.Pro1370Leu
NM_001351297.2:c.4106C>T	NP_001338226.1:p.Pro1369Leu
NR_147094.2:n.4404C>T
NM_001287174.3:c.4112C>T	NP_001274103.1:p.Pro1371Leu