Canonical Allele Identifier: CA254627

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395610C>T , CM000673.2:g.17395610C>T	GRCh38
NC_000011.9:g.17417157C>T , CM000673.1:g.17417157C>T	GRCh37
NC_000011.8:g.17373733C>T	NCBI36
NG_008867.1:g.86293G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4307G>A MANE Select	NP_000343.2:p.Arg1436Gln
ENST00000389817.8:c.4307G>A MANE Select	ENSP00000374467.4:p.Arg1436Gln
NM_000352.4:c.4307G>A	NP_000343.2:p.Arg1436Gln
NM_001287174.1:c.4310G>A	NP_001274103.1:p.Arg1437Gln
NM_001287174.2:c.4310G>A	NP_001274103.1:p.Arg1437Gln
NM_001287174.3:c.4310G>A	NP_001274103.1:p.Arg1437Gln
NM_001351295.1:c.4373G>A	NP_001338224.1:p.Arg1458Gln
NM_001351295.2:c.4373G>A	NP_001338224.1:p.Arg1458Gln
NM_001351296.1:c.4307G>A	NP_001338225.1:p.Arg1436Gln
NM_001351296.2:c.4307G>A	NP_001338225.1:p.Arg1436Gln
NM_001351297.1:c.4304G>A	NP_001338226.1:p.Arg1435Gln
NM_001351297.2:c.4304G>A	NP_001338226.1:p.Arg1435Gln
NR_147094.1:n.4602G>A
NR_147094.2:n.4602G>A
ENST00000302539.8:c.4310G>A	ENSP00000303960.4:p.Arg1437Gln
ENST00000302539.9:c.4310G>A	ENSP00000303960.4:p.Arg1437Gln
ENST00000389817.7:c.4307G>A	ENSP00000374467.3:p.Arg1436Gln
ENST00000524561.2:n.3908G>A
ENST00000525022.1:n.306G>A
ENST00000526037.5:n.171G>A
ENST00000526168.5:c.95G>A
ENST00000528374.2:c.898G>A
ENST00000529967.6:n.2646G>A
ENST00000531642.5:c.143G>A
ENST00000532220.2:n.3540G>A
ENST00000642271.1:c.4304G>A	ENSP00000493749.1:p.Arg1435Gln
ENST00000642579.1:c.2361G>A
ENST00000642611.1:n.5525G>A
ENST00000642611.2:n.5640G>A
ENST00000642902.1:c.4089G>A
ENST00000643260.1:c.4307G>A	ENSP00000494450.1:p.Arg1436Gln
ENST00000643562.1:c.*2429G>A	ENSP00000496124.1:n.*2429G>A
ENST00000643925.1:c.2947G>A
ENST00000644057.1:n.384G>A
ENST00000644057.2:n.883G>A
ENST00000644484.1:c.*3693G>A	ENSP00000493558.1:n.*3693G>A
ENST00000644675.1:c.*2479G>A	ENSP00000494567.1:n.*2479G>A
ENST00000644757.1:c.*3202+654G>A	ENSP00000495085.1:n.*3202+654G>A
ENST00000644772.1:c.4373G>A	ENSP00000494321.1:p.Arg1458Gln
ENST00000645004.1:n.2000G>A
ENST00000645004.2:n.1806G>A
ENST00000645076.1:c.3506G>A
ENST00000645417.1:c.1495G>A
ENST00000645744.1:c.*3992G>A	ENSP00000494564.1:n.*3992G>A
ENST00000645760.1:c.4728G>A
ENST00000645884.1:c.*1590G>A	ENSP00000495516.1:n.*1590G>A
ENST00000646003.1:c.*2329G>A	ENSP00000495259.1:n.*2329G>A
ENST00000646207.1:c.*3144G>A	ENSP00000495025.1:n.*3144G>A
ENST00000646276.1:c.*3711G>A	ENSP00000496070.1:n.*3711G>A
ENST00000646592.1:c.3613G>A
ENST00000646902.1:c.4274G>A	ENSP00000494101.1:p.Arg1425Gln
ENST00000646993.1:c.*2849G>A	ENSP00000493720.1:n.*2849G>A
ENST00000647013.1:c.4313G>A	ENSP00000496741.1:n.4313G>A
ENST00000647015.1:c.4058G>A	ENSP00000495389.1:p.Arg1353Gln
ENST00000647086.1:c.*3893G>A	ENSP00000493677.1:n.*3893G>A
ENST00000647158.1:c.*2594G>A	ENSP00000495744.1:n.*2594G>A
ENST00000682051.1:n.4469G>A
ENST00000682110.1:n.4522G>A
ENST00000682140.1:c.*93G>A	ENSP00000507829.1:n.*93G>A
ENST00000682185.1:n.5612G>A
ENST00000682204.1:c.*2445G>A	ENSP00000507094.1:n.*2445G>A
ENST00000682215.1:n.4889G>A
ENST00000682288.1:c.*2738G>A	ENSP00000507506.1:n.*2738G>A
ENST00000682442.1:n.4742G>A
ENST00000682528.1:n.4599G>A
ENST00000682673.1:n.4466G>A
ENST00000682805.1:n.4927G>A
ENST00000682965.1:c.*729G>A	ENSP00000508229.1:n.*729G>A
ENST00000683093.1:n.5606G>A
ENST00000683136.1:c.4190G>A	ENSP00000507768.1:p.Arg1397Gln
ENST00000683153.1:n.4564G>A
ENST00000683365.1:n.4624G>A
ENST00000683377.1:n.4522G>A
ENST00000683456.1:c.*1444G>A	ENSP00000508318.1:n.*1444G>A
ENST00000683522.1:n.4522G>A
ENST00000683562.1:c.*2476G>A	ENSP00000508265.1:n.*2476G>A
ENST00000683693.1:n.6087G>A
ENST00000683725.1:c.4307G>A	ENSP00000507496.1:p.Arg1436Gln
ENST00000684010.1:n.4517G>A
ENST00000684157.1:n.5507G>A
ENST00000684253.1:n.4425G>A
ENST00000684288.1:c.*2479G>A	ENSP00000507143.1:n.*2479G>A
ENST00000684313.1:n.3954G>A
ENST00000684332.1:n.4595G>A
ENST00000684371.1:n.4628G>A
ENST00000684404.1:n.5550G>A
ENST00000684442.1:n.4746G>A
ENST00000684555.1:c.*2519G>A	ENSP00000507705.1:n.*2519G>A
ENST00000684571.1:c.4148G>A	ENSP00000506935.1:p.Arg1383Gln
ENST00000684593.1:c.*4012G>A	ENSP00000507005.1:n.*4012G>A
ENST00000684711.1:c.*2703G>A	ENSP00000506841.1:n.*2703G>A
XM_011520331.1:c.4307G>A	XP_011518633.1:p.Arg1436Gln
XM_011520332.1:c.4310G>A	XP_011518634.1:p.Arg1437Gln
XM_011520333.1:c.2807G>A	XP_011518635.1:p.Arg936Gln
XM_017018197.2:c.4376G>A	XP_016873686.1:p.Arg1459Gln
XM_017018199.1:c.4373G>A	XP_016873688.1:p.Arg1458Gln
XM_017018201.2:c.4376G>A	XP_016873690.1:p.Arg1459Gln
XM_017018202.1:c.2873G>A	XP_016873691.1:p.Arg958Gln
XM_017018204.1:c.2264G>A	XP_016873693.1:p.Arg755Gln
XM_024448668.1:c.2675G>A	XP_024304436.1:p.Arg892Gln
XR_001747945.2:n.4448G>A
XR_001747946.2:n.4379G>A
XR_002957189.1:n.6162G>A
XR_930890.1:n.4373G>A