Canonical Allele Identifier: CA379783001

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394309-A-T
• MyVariant Identifiers: chr11:g.17415856A>T (hg19) ; chr11:g.17394309A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394309A>T , CM000673.2:g.17394309A>T	GRCh38
NC_000011.9:g.17415856A>T , CM000673.1:g.17415856A>T	GRCh37
NC_000011.8:g.17372432A>T	NCBI36
NG_008867.1:g.87594T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4103T>A
ENST00000526037.6:n.437T>A
ENST00000528374.2:c.1093T>A
ENST00000529967.6:n.2841T>A
ENST00000532220.2:n.3735T>A
ENST00000642611.2:n.5835T>A
ENST00000644057.2:n.1078T>A
ENST00000645004.2:n.2001T>A
ENST00000682051.1:n.4664T>A
ENST00000682110.1:n.4717T>A
ENST00000682140.1:c.*288T>A	ENSP00000507829.1:n.*288T>A
ENST00000682185.1:n.5807T>A
ENST00000682204.1:c.*2640T>A	ENSP00000507094.1:n.*2640T>A
ENST00000682215.1:n.5084T>A
ENST00000682288.1:c.*2933T>A	ENSP00000507506.1:n.*2933T>A
ENST00000682442.1:n.4937T>A
ENST00000682528.1:n.4794T>A
ENST00000682673.1:n.4661T>A
ENST00000682805.1:n.5122T>A
ENST00000682965.1:c.*924T>A	ENSP00000508229.1:n.*924T>A
ENST00000683093.1:n.5697T>A
ENST00000683136.1:c.4385T>A	ENSP00000507768.1:p.Ile1462Asn
ENST00000683153.1:n.4759T>A
ENST00000683365.1:n.4819T>A
ENST00000683377.1:n.4613T>A
ENST00000683456.1:c.*1639T>A	ENSP00000508318.1:n.*1639T>A
ENST00000683522.1:n.4799T>A
ENST00000683562.1:c.*2567T>A	ENSP00000508265.1:n.*2567T>A
ENST00000683693.1:n.6178T>A
ENST00000683725.1:c.4398T>A	ENSP00000507496.1:p.His1466Gln
ENST00000684010.1:n.4712T>A
ENST00000684014.1:n.689T>A
ENST00000684157.1:n.5702T>A
ENST00000684253.1:n.4620T>A
ENST00000684288.1:c.*2674T>A	ENSP00000507143.1:n.*2674T>A
ENST00000684313.1:n.4149T>A
ENST00000684332.1:n.4790T>A
ENST00000684371.1:n.4823T>A
ENST00000684404.1:n.5745T>A
ENST00000684442.1:n.4941T>A
ENST00000684555.1:c.*2714T>A	ENSP00000507705.1:n.*2714T>A
ENST00000684571.1:c.4343T>A	ENSP00000506935.1:p.Ile1448Asn
ENST00000684593.1:c.*4207T>A	ENSP00000507005.1:n.*4207T>A
ENST00000684711.1:c.*2898T>A	ENSP00000506841.1:n.*2898T>A
ENST00000302539.9:c.4505T>A	ENSP00000303960.4:p.Ile1502Asn
ENST00000389817.8:c.4502T>A MANE Select	ENSP00000374467.4:p.Ile1501Asn
ENST00000642271.1:c.4499T>A	ENSP00000493749.1:p.Ile1500Asn
ENST00000642579.1:c.2556T>A
ENST00000642611.1:n.5720T>A
ENST00000642902.1:c.4284T>A
ENST00000643260.1:c.4502T>A	ENSP00000494450.1:p.Ile1501Asn
ENST00000643562.1:c.*2624T>A	ENSP00000496124.1:n.*2624T>A
ENST00000643925.1:c.3142T>A
ENST00000644057.1:n.661T>A
ENST00000644484.1:c.*3888T>A	ENSP00000493558.1:n.*3888T>A
ENST00000644675.1:c.*2674T>A	ENSP00000494567.1:n.*2674T>A
ENST00000644757.1:c.*3203-1329T>A	ENSP00000495085.1:n.*3203-1329T>A
ENST00000644772.1:c.4568T>A	ENSP00000494321.1:p.Ile1523Asn
ENST00000645004.1:n.2195T>A
ENST00000645076.1:c.3597T>A
ENST00000645417.1:c.1690T>A
ENST00000645744.1:c.*4187T>A	ENSP00000494564.1:n.*4187T>A
ENST00000645760.1:c.4923T>A
ENST00000645884.1:c.*1785T>A	ENSP00000495516.1:n.*1785T>A
ENST00000646003.1:c.*2524T>A	ENSP00000495259.1:n.*2524T>A
ENST00000646207.1:c.*3339T>A	ENSP00000495025.1:n.*3339T>A
ENST00000646276.1:c.*3906T>A	ENSP00000496070.1:n.*3906T>A
ENST00000646592.1:c.3808T>A
ENST00000646902.1:c.4469T>A	ENSP00000494101.1:p.Ile1490Asn
ENST00000646993.1:c.*2940T>A	ENSP00000493720.1:n.*2940T>A
ENST00000647013.1:c.4508T>A	ENSP00000496741.1:n.4508T>A
ENST00000647015.1:c.4253T>A	ENSP00000495389.1:p.Ile1418Asn
ENST00000647086.1:c.*4088T>A	ENSP00000493677.1:n.*4088T>A
ENST00000647158.1:c.*2789T>A	ENSP00000495744.1:n.*2789T>A
ENST00000302539.8:c.4505T>A	ENSP00000303960.4:p.Ile1502Asn
ENST00000389817.7:c.4502T>A	ENSP00000374467.3:p.Ile1501Asn
ENST00000525022.1:n.397T>A
ENST00000526037.5:n.262T>A
ENST00000526168.5:c.290T>A
ENST00000531642.5:c.533T>A
NM_000352.4:c.4502T>A	NP_000343.2:p.Ile1501Asn
NM_001287174.1:c.4505T>A	NP_001274103.1:p.Ile1502Asn
XM_011520331.1:c.4502T>A	XP_011518633.1:p.Ile1501Asn
XM_011520332.1:c.4401T>A	XP_011518634.1:p.His1467Gln
XM_011520333.1:c.3002T>A	XP_011518635.1:p.Ile1001Asn
XR_930890.1:n.4464T>A
NM_001351295.1:c.4568T>A	NP_001338224.1:p.Ile1523Asn
NM_001351296.1:c.4502T>A	NP_001338225.1:p.Ile1501Asn
NM_001351297.1:c.4499T>A	NP_001338226.1:p.Ile1500Asn
NR_147094.1:n.4797T>A
XM_017018197.2:c.4571T>A	XP_016873686.1:p.Ile1524Asn
XM_017018199.1:c.4568T>A	XP_016873688.1:p.Ile1523Asn
XM_017018201.2:c.4467T>A	XP_016873690.1:p.His1489Gln
XM_017018202.1:c.3068T>A	XP_016873691.1:p.Ile1023Asn
XM_017018204.1:c.2459T>A	XP_016873693.1:p.Ile820Asn
XM_024448668.1:c.2870T>A	XP_024304436.1:p.Ile957Asn
XR_001747945.2:n.4539T>A
XR_001747946.2:n.4470T>A
XR_002957189.1:n.6253T>A
NM_000352.6:c.4502T>A MANE Select	NP_000343.2:p.Ile1501Asn
NM_001287174.2:c.4505T>A	NP_001274103.1:p.Ile1502Asn
NM_001351295.2:c.4568T>A	NP_001338224.1:p.Ile1523Asn
NM_001351296.2:c.4502T>A	NP_001338225.1:p.Ile1501Asn
NM_001351297.2:c.4499T>A	NP_001338226.1:p.Ile1500Asn
NR_147094.2:n.4797T>A
NM_001287174.3:c.4505T>A	NP_001274103.1:p.Ile1502Asn