Canonical Allele Identifier: CA473298286

Gene: ABCC8

Linked Data

• dbSNP Id: rs1303590983
• gnomAD v2: 11-17417421-G-A
• MyVariant Identifiers: chr11:g.17417421G>A (hg19) ; chr11:g.17395874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395874G>A , CM000673.2:g.17395874G>A	GRCh38
NC_000011.9:g.17417421G>A , CM000673.1:g.17417421G>A	GRCh37
NC_000011.8:g.17373997G>A	NCBI36
NG_008867.1:g.86029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3777C>T
ENST00000528374.2:c.767C>T
ENST00000529967.6:n.2515C>T
ENST00000532220.2:n.3409C>T
ENST00000642611.2:n.5376C>T
ENST00000644057.2:n.619C>T
ENST00000645004.2:n.1675C>T
ENST00000682051.1:n.4338C>T
ENST00000682110.1:n.4391C>T
ENST00000682140.1:c.4042C>T	ENSP00000507829.1:p.Pro1348Ser
ENST00000682185.1:n.5481C>T
ENST00000682204.1:c.*2314C>T	ENSP00000507094.1:n.*2314C>T
ENST00000682215.1:n.4758C>T
ENST00000682288.1:c.*2607C>T	ENSP00000507506.1:n.*2607C>T
ENST00000682442.1:n.4611C>T
ENST00000682528.1:n.4468C>T
ENST00000682673.1:n.4335C>T
ENST00000682805.1:n.4796C>T
ENST00000682965.1:c.*598C>T	ENSP00000508229.1:n.*598C>T
ENST00000683093.1:n.5475C>T
ENST00000683136.1:c.4059C>T	ENSP00000507768.1:p.Phe1353=
ENST00000683153.1:n.4433C>T
ENST00000683365.1:n.4493C>T
ENST00000683377.1:n.4391C>T
ENST00000683456.1:c.*1313C>T	ENSP00000508318.1:n.*1313C>T
ENST00000683522.1:n.4391C>T
ENST00000683562.1:c.*2345C>T	ENSP00000508265.1:n.*2345C>T
ENST00000683693.1:n.5823C>T
ENST00000683725.1:c.4176C>T	ENSP00000507496.1:p.Phe1392=
ENST00000684010.1:n.4386C>T
ENST00000684157.1:n.5376C>T
ENST00000684253.1:n.4294C>T
ENST00000684288.1:c.*2348C>T	ENSP00000507143.1:n.*2348C>T
ENST00000684313.1:n.3823C>T
ENST00000684332.1:n.4464C>T
ENST00000684371.1:n.4497C>T
ENST00000684404.1:n.5419C>T
ENST00000684442.1:n.4615C>T
ENST00000684555.1:c.*2388C>T	ENSP00000507705.1:n.*2388C>T
ENST00000684571.1:c.4017C>T	ENSP00000506935.1:p.Phe1339=
ENST00000684593.1:c.*3881C>T	ENSP00000507005.1:n.*3881C>T
ENST00000684711.1:c.*2572C>T	ENSP00000506841.1:n.*2572C>T
ENST00000302539.9:c.4179C>T	ENSP00000303960.4:p.Phe1393=
ENST00000389817.8:c.4176C>T MANE Select	ENSP00000374467.4:p.Phe1392=
ENST00000642271.1:c.4173C>T	ENSP00000493749.1:p.Phe1391=
ENST00000642579.1:c.2230C>T
ENST00000642611.1:n.5261C>T
ENST00000642902.1:c.3958C>T
ENST00000643260.1:c.4176C>T	ENSP00000494450.1:p.Phe1392=
ENST00000643562.1:c.*2298C>T	ENSP00000496124.1:n.*2298C>T
ENST00000643925.1:c.2816C>T
ENST00000644057.1:n.253C>T
ENST00000644484.1:c.*3562C>T	ENSP00000493558.1:n.*3562C>T
ENST00000644675.1:c.*2348C>T	ENSP00000494567.1:n.*2348C>T
ENST00000644757.1:c.*3202+390C>T	ENSP00000495085.1:n.*3202+390C>T
ENST00000644772.1:c.4242C>T	ENSP00000494321.1:p.Phe1414=
ENST00000645004.1:n.1869C>T
ENST00000645076.1:c.3375C>T
ENST00000645417.1:c.1364C>T
ENST00000645744.1:c.*3941C>T	ENSP00000494564.1:n.*3941C>T
ENST00000645760.1:c.4597C>T
ENST00000645884.1:c.*1459C>T	ENSP00000495516.1:n.*1459C>T
ENST00000646003.1:c.*2278C>T	ENSP00000495259.1:n.*2278C>T
ENST00000646207.1:c.*3013C>T	ENSP00000495025.1:n.*3013C>T
ENST00000646276.1:c.*3580C>T	ENSP00000496070.1:n.*3580C>T
ENST00000646592.1:c.3482C>T
ENST00000646902.1:c.4143C>T	ENSP00000494101.1:p.Phe1381=
ENST00000646993.1:c.*2718C>T	ENSP00000493720.1:n.*2718C>T
ENST00000647013.1:c.4182C>T	ENSP00000496741.1:n.4182C>T
ENST00000647015.1:c.3927C>T	ENSP00000495389.1:p.Phe1309=
ENST00000647086.1:c.*3762C>T	ENSP00000493677.1:n.*3762C>T
ENST00000647158.1:c.*2463C>T	ENSP00000495744.1:n.*2463C>T
ENST00000302539.8:c.4179C>T	ENSP00000303960.4:p.Phe1393=
ENST00000389817.7:c.4176C>T	ENSP00000374467.3:p.Phe1392=
ENST00000525022.1:n.42C>T
ENST00000526168.5:c.44C>T
ENST00000531642.5:c.12C>T
NM_000352.4:c.4176C>T	NP_000343.2:p.Phe1392=
NM_001287174.1:c.4179C>T	NP_001274103.1:p.Phe1393=
XM_011520331.1:c.4176C>T	XP_011518633.1:p.Phe1392=
XM_011520332.1:c.4179C>T	XP_011518634.1:p.Phe1393=
XM_011520333.1:c.2676C>T	XP_011518635.1:p.Phe892=
XR_930890.1:n.4242C>T
NM_001351295.1:c.4242C>T	NP_001338224.1:p.Phe1414=
NM_001351296.1:c.4176C>T	NP_001338225.1:p.Phe1392=
NM_001351297.1:c.4173C>T	NP_001338226.1:p.Phe1391=
NR_147094.1:n.4471C>T
XM_017018197.2:c.4245C>T	XP_016873686.1:p.Phe1415=
XM_017018199.1:c.4242C>T	XP_016873688.1:p.Phe1414=
XM_017018201.2:c.4245C>T	XP_016873690.1:p.Phe1415=
XM_017018202.1:c.2742C>T	XP_016873691.1:p.Phe914=
XM_017018204.1:c.2133C>T	XP_016873693.1:p.Phe711=
XM_024448668.1:c.2544C>T	XP_024304436.1:p.Phe848=
XR_001747945.2:n.4317C>T
XR_001747946.2:n.4248C>T
XR_002957189.1:n.5898C>T
NM_000352.6:c.4176C>T MANE Select	NP_000343.2:p.Phe1392=
NM_001287174.2:c.4179C>T	NP_001274103.1:p.Phe1393=
NM_001351295.2:c.4242C>T	NP_001338224.1:p.Phe1414=
NM_001351296.2:c.4176C>T	NP_001338225.1:p.Phe1392=
NM_001351297.2:c.4173C>T	NP_001338226.1:p.Phe1391=
NR_147094.2:n.4471C>T
NM_001287174.3:c.4179C>T	NP_001274103.1:p.Phe1393=