Canonical Allele Identifier: CA379782968

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415853A>G (hg19) ; chr11:g.17394306A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394306A>G , CM000673.2:g.17394306A>G	GRCh38
NC_000011.9:g.17415853A>G , CM000673.1:g.17415853A>G	GRCh37
NC_000011.8:g.17372429A>G	NCBI36
NG_008867.1:g.87597T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4106T>C
ENST00000526037.6:n.440T>C
ENST00000528374.2:c.1096T>C
ENST00000529967.6:n.2844T>C
ENST00000532220.2:n.3738T>C
ENST00000642611.2:n.5838T>C
ENST00000644057.2:n.1081T>C
ENST00000645004.2:n.2004T>C
ENST00000682051.1:n.4667T>C
ENST00000682110.1:n.4720T>C
ENST00000682140.1:c.*291T>C	ENSP00000507829.1:n.*291T>C
ENST00000682185.1:n.5810T>C
ENST00000682204.1:c.*2643T>C	ENSP00000507094.1:n.*2643T>C
ENST00000682215.1:n.5087T>C
ENST00000682288.1:c.*2936T>C	ENSP00000507506.1:n.*2936T>C
ENST00000682442.1:n.4940T>C
ENST00000682528.1:n.4797T>C
ENST00000682673.1:n.4664T>C
ENST00000682805.1:n.5125T>C
ENST00000682965.1:c.*927T>C	ENSP00000508229.1:n.*927T>C
ENST00000683093.1:n.5700T>C
ENST00000683136.1:c.4388T>C	ENSP00000507768.1:p.Phe1463Ser
ENST00000683153.1:n.4762T>C
ENST00000683365.1:n.4822T>C
ENST00000683377.1:n.4616T>C
ENST00000683456.1:c.*1642T>C	ENSP00000508318.1:n.*1642T>C
ENST00000683522.1:n.4802T>C
ENST00000683562.1:c.*2570T>C	ENSP00000508265.1:n.*2570T>C
ENST00000683693.1:n.6181T>C
ENST00000683725.1:c.4401T>C	ENSP00000507496.1:p.Leu1467=
ENST00000684010.1:n.4715T>C
ENST00000684014.1:n.692T>C
ENST00000684157.1:n.5705T>C
ENST00000684253.1:n.4623T>C
ENST00000684288.1:c.*2677T>C	ENSP00000507143.1:n.*2677T>C
ENST00000684313.1:n.4152T>C
ENST00000684332.1:n.4793T>C
ENST00000684371.1:n.4826T>C
ENST00000684404.1:n.5748T>C
ENST00000684442.1:n.4944T>C
ENST00000684555.1:c.*2717T>C	ENSP00000507705.1:n.*2717T>C
ENST00000684571.1:c.4346T>C	ENSP00000506935.1:p.Phe1449Ser
ENST00000684593.1:c.*4210T>C	ENSP00000507005.1:n.*4210T>C
ENST00000684711.1:c.*2901T>C	ENSP00000506841.1:n.*2901T>C
ENST00000302539.9:c.4508T>C	ENSP00000303960.4:p.Phe1503Ser
ENST00000389817.8:c.4505T>C MANE Select	ENSP00000374467.4:p.Phe1502Ser
ENST00000642271.1:c.4502T>C	ENSP00000493749.1:p.Phe1501Ser
ENST00000642579.1:c.2559T>C
ENST00000642611.1:n.5723T>C
ENST00000642902.1:c.4287T>C
ENST00000643260.1:c.4505T>C	ENSP00000494450.1:p.Phe1502Ser
ENST00000643562.1:c.*2627T>C	ENSP00000496124.1:n.*2627T>C
ENST00000643925.1:c.3145T>C
ENST00000644057.1:n.664T>C
ENST00000644484.1:c.*3891T>C	ENSP00000493558.1:n.*3891T>C
ENST00000644675.1:c.*2677T>C	ENSP00000494567.1:n.*2677T>C
ENST00000644757.1:c.*3203-1326T>C	ENSP00000495085.1:n.*3203-1326T>C
ENST00000644772.1:c.4571T>C	ENSP00000494321.1:p.Phe1524Ser
ENST00000645004.1:n.2198T>C
ENST00000645076.1:c.3600T>C
ENST00000645417.1:c.1693T>C
ENST00000645744.1:c.*4190T>C	ENSP00000494564.1:n.*4190T>C
ENST00000645760.1:c.4926T>C
ENST00000645884.1:c.*1788T>C	ENSP00000495516.1:n.*1788T>C
ENST00000646003.1:c.*2527T>C	ENSP00000495259.1:n.*2527T>C
ENST00000646207.1:c.*3342T>C	ENSP00000495025.1:n.*3342T>C
ENST00000646276.1:c.*3909T>C	ENSP00000496070.1:n.*3909T>C
ENST00000646592.1:c.3811T>C
ENST00000646902.1:c.4472T>C	ENSP00000494101.1:p.Phe1491Ser
ENST00000646993.1:c.*2943T>C	ENSP00000493720.1:n.*2943T>C
ENST00000647013.1:c.4511T>C	ENSP00000496741.1:n.4511T>C
ENST00000647015.1:c.4256T>C	ENSP00000495389.1:p.Phe1419Ser
ENST00000647086.1:c.*4091T>C	ENSP00000493677.1:n.*4091T>C
ENST00000647158.1:c.*2792T>C	ENSP00000495744.1:n.*2792T>C
ENST00000302539.8:c.4508T>C	ENSP00000303960.4:p.Phe1503Ser
ENST00000389817.7:c.4505T>C	ENSP00000374467.3:p.Phe1502Ser
ENST00000525022.1:n.400T>C
ENST00000526037.5:n.265T>C
ENST00000526168.5:c.293T>C
ENST00000531642.5:c.536T>C
NM_000352.4:c.4505T>C	NP_000343.2:p.Phe1502Ser
NM_001287174.1:c.4508T>C	NP_001274103.1:p.Phe1503Ser
XM_011520331.1:c.4505T>C	XP_011518633.1:p.Phe1502Ser
XM_011520332.1:c.4404T>C	XP_011518634.1:p.Leu1468=
XM_011520333.1:c.3005T>C	XP_011518635.1:p.Phe1002Ser
XR_930890.1:n.4467T>C
NM_001351295.1:c.4571T>C	NP_001338224.1:p.Phe1524Ser
NM_001351296.1:c.4505T>C	NP_001338225.1:p.Phe1502Ser
NM_001351297.1:c.4502T>C	NP_001338226.1:p.Phe1501Ser
NR_147094.1:n.4800T>C
XM_017018197.2:c.4574T>C	XP_016873686.1:p.Phe1525Ser
XM_017018199.1:c.4571T>C	XP_016873688.1:p.Phe1524Ser
XM_017018201.2:c.4470T>C	XP_016873690.1:p.Leu1490=
XM_017018202.1:c.3071T>C	XP_016873691.1:p.Phe1024Ser
XM_017018204.1:c.2462T>C	XP_016873693.1:p.Phe821Ser
XM_024448668.1:c.2873T>C	XP_024304436.1:p.Phe958Ser
XR_001747945.2:n.4542T>C
XR_001747946.2:n.4473T>C
XR_002957189.1:n.6256T>C
NM_000352.6:c.4505T>C MANE Select	NP_000343.2:p.Phe1502Ser
NM_001287174.2:c.4508T>C	NP_001274103.1:p.Phe1503Ser
NM_001351295.2:c.4571T>C	NP_001338224.1:p.Phe1524Ser
NM_001351296.2:c.4505T>C	NP_001338225.1:p.Phe1502Ser
NM_001351297.2:c.4502T>C	NP_001338226.1:p.Phe1501Ser
NR_147094.2:n.4800T>C
NM_001287174.3:c.4508T>C	NP_001274103.1:p.Phe1503Ser