Canonical Allele Identifier: CA379787343

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417254T>A (hg19) ; chr11:g.17395707T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395707T>A , CM000673.2:g.17395707T>A	GRCh38
NC_000011.9:g.17417254T>A , CM000673.1:g.17417254T>A	GRCh37
NC_000011.8:g.17373830T>A	NCBI36
NG_008867.1:g.86196A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3811A>T
ENST00000528374.2:c.801A>T
ENST00000529967.6:n.2549A>T
ENST00000532220.2:n.3443A>T
ENST00000642611.2:n.5543A>T
ENST00000644057.2:n.786A>T
ENST00000645004.2:n.1709A>T
ENST00000682051.1:n.4372A>T
ENST00000682110.1:n.4425A>T
ENST00000682140.1:c.4076A>T	ENSP00000507829.1:p.His1359Leu
ENST00000682185.1:n.5515A>T
ENST00000682204.1:c.*2348A>T	ENSP00000507094.1:n.*2348A>T
ENST00000682215.1:n.4792A>T
ENST00000682288.1:c.*2641A>T	ENSP00000507506.1:n.*2641A>T
ENST00000682442.1:n.4645A>T
ENST00000682528.1:n.4502A>T
ENST00000682673.1:n.4369A>T
ENST00000682805.1:n.4830A>T
ENST00000682965.1:c.*632A>T	ENSP00000508229.1:n.*632A>T
ENST00000683093.1:n.5509A>T
ENST00000683136.1:c.4093A>T	ENSP00000507768.1:p.Ile1365Phe
ENST00000683153.1:n.4467A>T
ENST00000683365.1:n.4527A>T
ENST00000683377.1:n.4425A>T
ENST00000683456.1:c.*1347A>T	ENSP00000508318.1:n.*1347A>T
ENST00000683522.1:n.4425A>T
ENST00000683562.1:c.*2379A>T	ENSP00000508265.1:n.*2379A>T
ENST00000683693.1:n.5990A>T
ENST00000683725.1:c.4210A>T	ENSP00000507496.1:p.Ile1404Phe
ENST00000684010.1:n.4420A>T
ENST00000684157.1:n.5410A>T
ENST00000684253.1:n.4328A>T
ENST00000684288.1:c.*2382A>T	ENSP00000507143.1:n.*2382A>T
ENST00000684313.1:n.3857A>T
ENST00000684332.1:n.4498A>T
ENST00000684371.1:n.4531A>T
ENST00000684404.1:n.5453A>T
ENST00000684442.1:n.4649A>T
ENST00000684555.1:c.*2422A>T	ENSP00000507705.1:n.*2422A>T
ENST00000684571.1:c.4051A>T	ENSP00000506935.1:p.Ile1351Phe
ENST00000684593.1:c.*3915A>T	ENSP00000507005.1:n.*3915A>T
ENST00000684711.1:c.*2606A>T	ENSP00000506841.1:n.*2606A>T
ENST00000302539.9:c.4213A>T	ENSP00000303960.4:p.Ile1405Phe
ENST00000389817.8:c.4210A>T MANE Select	ENSP00000374467.4:p.Ile1404Phe
ENST00000642271.1:c.4207A>T	ENSP00000493749.1:p.Ile1403Phe
ENST00000642579.1:c.2264A>T
ENST00000642611.1:n.5428A>T
ENST00000642902.1:c.3992A>T
ENST00000643260.1:c.4210A>T	ENSP00000494450.1:p.Ile1404Phe
ENST00000643562.1:c.*2332A>T	ENSP00000496124.1:n.*2332A>T
ENST00000643925.1:c.2850A>T
ENST00000644057.1:n.287A>T
ENST00000644484.1:c.*3596A>T	ENSP00000493558.1:n.*3596A>T
ENST00000644675.1:c.*2382A>T	ENSP00000494567.1:n.*2382A>T
ENST00000644757.1:c.*3202+557A>T	ENSP00000495085.1:n.*3202+557A>T
ENST00000644772.1:c.4276A>T	ENSP00000494321.1:p.Ile1426Phe
ENST00000645004.1:n.1903A>T
ENST00000645076.1:c.3409A>T
ENST00000645417.1:c.1398A>T
ENST00000645744.1:c.*3964-69A>T	ENSP00000494564.1:n.*3964-69A>T
ENST00000645760.1:c.4631A>T
ENST00000645884.1:c.*1493A>T	ENSP00000495516.1:n.*1493A>T
ENST00000646003.1:c.*2301-69A>T	ENSP00000495259.1:n.*2301-69A>T
ENST00000646207.1:c.*3047A>T	ENSP00000495025.1:n.*3047A>T
ENST00000646276.1:c.*3614A>T	ENSP00000496070.1:n.*3614A>T
ENST00000646592.1:c.3516A>T
ENST00000646902.1:c.4177A>T	ENSP00000494101.1:p.Ile1393Phe
ENST00000646993.1:c.*2752A>T	ENSP00000493720.1:n.*2752A>T
ENST00000647013.1:c.4216A>T	ENSP00000496741.1:n.4216A>T
ENST00000647015.1:c.3961A>T	ENSP00000495389.1:p.Ile1321Phe
ENST00000647086.1:c.*3796A>T	ENSP00000493677.1:n.*3796A>T
ENST00000647158.1:c.*2497A>T	ENSP00000495744.1:n.*2497A>T
ENST00000302539.8:c.4213A>T	ENSP00000303960.4:p.Ile1405Phe
ENST00000389817.7:c.4210A>T	ENSP00000374467.3:p.Ile1404Phe
ENST00000525022.1:n.209A>T
ENST00000526037.5:n.74A>T
ENST00000526168.5:c.67-69A>T
ENST00000531642.5:c.46A>T
NM_000352.4:c.4210A>T	NP_000343.2:p.Ile1404Phe
NM_001287174.1:c.4213A>T	NP_001274103.1:p.Ile1405Phe
XM_011520331.1:c.4210A>T	XP_011518633.1:p.Ile1404Phe
XM_011520332.1:c.4213A>T	XP_011518634.1:p.Ile1405Phe
XM_011520333.1:c.2710A>T	XP_011518635.1:p.Ile904Phe
XR_930890.1:n.4276A>T
NM_001351295.1:c.4276A>T	NP_001338224.1:p.Ile1426Phe
NM_001351296.1:c.4210A>T	NP_001338225.1:p.Ile1404Phe
NM_001351297.1:c.4207A>T	NP_001338226.1:p.Ile1403Phe
NR_147094.1:n.4505A>T
XM_017018197.2:c.4279A>T	XP_016873686.1:p.Ile1427Phe
XM_017018199.1:c.4276A>T	XP_016873688.1:p.Ile1426Phe
XM_017018201.2:c.4279A>T	XP_016873690.1:p.Ile1427Phe
XM_017018202.1:c.2776A>T	XP_016873691.1:p.Ile926Phe
XM_017018204.1:c.2167A>T	XP_016873693.1:p.Ile723Phe
XM_024448668.1:c.2578A>T	XP_024304436.1:p.Ile860Phe
XR_001747945.2:n.4351A>T
XR_001747946.2:n.4282A>T
XR_002957189.1:n.6065A>T
NM_000352.6:c.4210A>T MANE Select	NP_000343.2:p.Ile1404Phe
NM_001287174.2:c.4213A>T	NP_001274103.1:p.Ile1405Phe
NM_001351295.2:c.4276A>T	NP_001338224.1:p.Ile1426Phe
NM_001351296.2:c.4210A>T	NP_001338225.1:p.Ile1404Phe
NM_001351297.2:c.4207A>T	NP_001338226.1:p.Ile1403Phe
NR_147094.2:n.4505A>T
NM_001287174.3:c.4213A>T	NP_001274103.1:p.Ile1405Phe