Canonical Allele Identifier: CA1955123258

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395697A= , CM000673.2:g.17395697A=	GRCh38
NC_000011.9:g.17417244A= , CM000673.1:g.17417244A=	GRCh37
NC_000011.8:g.17373820A=	NCBI36
NG_008867.1:g.86206T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3821T=
ENST00000528374.2:c.811T=
ENST00000529967.6:n.2559T=
ENST00000532220.2:n.3453T=
ENST00000642611.2:n.5553T=
ENST00000644057.2:n.796T=
ENST00000645004.2:n.1719T=
ENST00000682051.1:n.4382T=
ENST00000682110.1:n.4435T=
ENST00000682140.1:c.*6T=	ENSP00000507829.1:n.*6T=
ENST00000682185.1:n.5525T=
ENST00000682204.1:c.*2358T=	ENSP00000507094.1:n.*2358T=
ENST00000682215.1:n.4802T=
ENST00000682288.1:c.*2651T=	ENSP00000507506.1:n.*2651T=
ENST00000682442.1:n.4655T=
ENST00000682528.1:n.4512T=
ENST00000682673.1:n.4379T=
ENST00000682805.1:n.4840T=
ENST00000682965.1:c.*642T=	ENSP00000508229.1:n.*642T=
ENST00000683093.1:n.5519T=
ENST00000683136.1:c.4103T=	ENSP00000507768.1:p.Ile1368=
ENST00000683153.1:n.4477T=
ENST00000683365.1:n.4537T=
ENST00000683377.1:n.4435T=
ENST00000683456.1:c.*1357T=	ENSP00000508318.1:n.*1357T=
ENST00000683522.1:n.4435T=
ENST00000683562.1:c.*2389T=	ENSP00000508265.1:n.*2389T=
ENST00000683693.1:n.6000T=
ENST00000683725.1:c.4220T=	ENSP00000507496.1:p.Ile1407=
ENST00000684010.1:n.4430T=
ENST00000684157.1:n.5420T=
ENST00000684253.1:n.4338T=
ENST00000684288.1:c.*2392T=	ENSP00000507143.1:n.*2392T=
ENST00000684313.1:n.3867T=
ENST00000684332.1:n.4508T=
ENST00000684371.1:n.4541T=
ENST00000684404.1:n.5463T=
ENST00000684442.1:n.4659T=
ENST00000684555.1:c.*2432T=	ENSP00000507705.1:n.*2432T=
ENST00000684571.1:c.4061T=	ENSP00000506935.1:p.Ile1354=
ENST00000684593.1:c.*3925T=	ENSP00000507005.1:n.*3925T=
ENST00000684711.1:c.*2616T=	ENSP00000506841.1:n.*2616T=
ENST00000302539.9:c.4223T=	ENSP00000303960.4:p.Ile1408=
ENST00000389817.8:c.4220T= MANE Select	ENSP00000374467.4:p.Ile1407=
ENST00000642271.1:c.4217T=	ENSP00000493749.1:p.Ile1406=
ENST00000642579.1:c.2274T=
ENST00000642611.1:n.5438T=
ENST00000642902.1:c.4002T=
ENST00000643260.1:c.4220T=	ENSP00000494450.1:p.Ile1407=
ENST00000643562.1:c.*2342T=	ENSP00000496124.1:n.*2342T=
ENST00000643925.1:c.2860T=
ENST00000644057.1:n.297T=
ENST00000644484.1:c.*3606T=	ENSP00000493558.1:n.*3606T=
ENST00000644675.1:c.*2392T=	ENSP00000494567.1:n.*2392T=
ENST00000644757.1:c.*3202+567T=	ENSP00000495085.1:n.*3202+567T=
ENST00000644772.1:c.4286T=	ENSP00000494321.1:p.Ile1429=
ENST00000645004.1:n.1913T=
ENST00000645076.1:c.3419T=
ENST00000645417.1:c.1408T=
ENST00000645744.1:c.*3964-59T=	ENSP00000494564.1:n.*3964-59T=
ENST00000645760.1:c.4641T=
ENST00000645884.1:c.*1503T=	ENSP00000495516.1:n.*1503T=
ENST00000646003.1:c.*2301-59T=	ENSP00000495259.1:n.*2301-59T=
ENST00000646207.1:c.*3057T=	ENSP00000495025.1:n.*3057T=
ENST00000646276.1:c.*3624T=	ENSP00000496070.1:n.*3624T=
ENST00000646592.1:c.3526T=
ENST00000646902.1:c.4187T=	ENSP00000494101.1:p.Ile1396=
ENST00000646993.1:c.*2762T=	ENSP00000493720.1:n.*2762T=
ENST00000647013.1:c.4226T=	ENSP00000496741.1:n.4226T=
ENST00000647015.1:c.3971T=	ENSP00000495389.1:p.Ile1324=
ENST00000647086.1:c.*3806T=	ENSP00000493677.1:n.*3806T=
ENST00000647158.1:c.*2507T=	ENSP00000495744.1:n.*2507T=
ENST00000302539.8:c.4223T=	ENSP00000303960.4:p.Ile1408=
ENST00000389817.7:c.4220T=	ENSP00000374467.3:p.Ile1407=
ENST00000525022.1:n.219T=
ENST00000526037.5:n.84T=
ENST00000526168.5:c.67-59T=
ENST00000531642.5:c.56T=
NM_000352.4:c.4220T=	NP_000343.2:p.Ile1407=
NM_001287174.1:c.4223T=	NP_001274103.1:p.Ile1408=
XM_011520331.1:c.4220T=	XP_011518633.1:p.Ile1407=
XM_011520332.1:c.4223T=	XP_011518634.1:p.Ile1408=
XM_011520333.1:c.2720T=	XP_011518635.1:p.Ile907=
XR_930890.1:n.4286T=
NM_001351295.1:c.4286T=	NP_001338224.1:p.Ile1429=
NM_001351296.1:c.4220T=	NP_001338225.1:p.Ile1407=
NM_001351297.1:c.4217T=	NP_001338226.1:p.Ile1406=
NR_147094.1:n.4515T=
XM_017018197.2:c.4289T=	XP_016873686.1:p.Ile1430=
XM_017018199.1:c.4286T=	XP_016873688.1:p.Ile1429=
XM_017018201.2:c.4289T=	XP_016873690.1:p.Ile1430=
XM_017018202.1:c.2786T=	XP_016873691.1:p.Ile929=
XM_017018204.1:c.2177T=	XP_016873693.1:p.Ile726=
XM_024448668.1:c.2588T=	XP_024304436.1:p.Ile863=
XR_001747945.2:n.4361T=
XR_001747946.2:n.4292T=
XR_002957189.1:n.6075T=
NM_000352.6:c.4220T= MANE Select	NP_000343.2:p.Ile1407=
NM_001287174.2:c.4223T=	NP_001274103.1:p.Ile1408=
NM_001351295.2:c.4286T=	NP_001338224.1:p.Ile1429=
NM_001351296.2:c.4220T=	NP_001338225.1:p.Ile1407=
NM_001351297.2:c.4217T=	NP_001338226.1:p.Ile1406=
NR_147094.2:n.4515T=
NM_001287174.3:c.4223T=	NP_001274103.1:p.Ile1408=