Canonical Allele Identifier: CA379783544
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394368G>T , CM000673.2:g.17394368G>T GRCh38
NC_000011.9:g.17415915G>T , CM000673.1:g.17415915G>T GRCh37
NC_000011.8:g.17372491G>T NCBI36
NG_008867.1:g.87535C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4044C>A
ENST00000526037.6:n.378C>A
ENST00000528374.2:c.1034C>A
ENST00000529967.6:n.2782C>A
ENST00000532220.2:n.3676C>A
ENST00000642611.2:n.5776C>A
ENST00000644057.2:n.1019C>A
ENST00000645004.2:n.1942C>A
ENST00000682051.1:n.4605C>A
ENST00000682110.1:n.4658C>A
ENST00000682140.1:c.*229C>A ENSP00000507829.1:n.*229C>A
ENST00000682185.1:n.5748C>A
ENST00000682204.1:c.*2581C>A ENSP00000507094.1:n.*2581C>A
ENST00000682215.1:n.5025C>A
ENST00000682288.1:c.*2874C>A ENSP00000507506.1:n.*2874C>A
ENST00000682442.1:n.4878C>A
ENST00000682528.1:n.4735C>A
ENST00000682673.1:n.4602C>A
ENST00000682805.1:n.5063C>A
ENST00000682965.1:c.*865C>A ENSP00000508229.1:n.*865C>A
ENST00000683093.1:n.5638C>A
ENST00000683136.1:c.4326C>A ENSP00000507768.1:p.Phe1442Leu
ENST00000683153.1:n.4700C>A
ENST00000683365.1:n.4760C>A
ENST00000683377.1:n.4554C>A
ENST00000683456.1:c.*1580C>A ENSP00000508318.1:n.*1580C>A
ENST00000683522.1:n.4740C>A
ENST00000683562.1:c.*2508C>A ENSP00000508265.1:n.*2508C>A
ENST00000683693.1:n.6119C>A
ENST00000683725.1:c.4339C>A ENSP00000507496.1:p.Gln1447Lys
ENST00000684010.1:n.4653C>A
ENST00000684014.1:n.630C>A
ENST00000684157.1:n.5643C>A
ENST00000684253.1:n.4561C>A
ENST00000684288.1:c.*2615C>A ENSP00000507143.1:n.*2615C>A
ENST00000684313.1:n.4090C>A
ENST00000684332.1:n.4731C>A
ENST00000684371.1:n.4764C>A
ENST00000684404.1:n.5686C>A
ENST00000684442.1:n.4882C>A
ENST00000684555.1:c.*2655C>A ENSP00000507705.1:n.*2655C>A
ENST00000684571.1:c.4284C>A ENSP00000506935.1:p.Phe1428Leu
ENST00000684593.1:c.*4148C>A ENSP00000507005.1:n.*4148C>A
ENST00000684711.1:c.*2839C>A ENSP00000506841.1:n.*2839C>A
ENST00000302539.9:c.4446C>A ENSP00000303960.4:p.Phe1482Leu
ENST00000389817.8:c.4443C>A MANE Select ENSP00000374467.4:p.Phe1481Leu
ENST00000642271.1:c.4440C>A ENSP00000493749.1:p.Phe1480Leu
ENST00000642579.1:c.2497C>A
ENST00000642611.1:n.5661C>A
ENST00000642902.1:c.4225C>A
ENST00000643260.1:c.4443C>A ENSP00000494450.1:p.Phe1481Leu
ENST00000643562.1:c.*2565C>A ENSP00000496124.1:n.*2565C>A
ENST00000643925.1:c.3083C>A
ENST00000644057.1:n.602C>A
ENST00000644484.1:c.*3829C>A ENSP00000493558.1:n.*3829C>A
ENST00000644675.1:c.*2615C>A ENSP00000494567.1:n.*2615C>A
ENST00000644757.1:c.*3203-1388C>A ENSP00000495085.1:n.*3203-1388C>A
ENST00000644772.1:c.4509C>A ENSP00000494321.1:p.Phe1503Leu
ENST00000645004.1:n.2136C>A
ENST00000645076.1:c.3538C>A
ENST00000645417.1:c.1631C>A
ENST00000645744.1:c.*4128C>A ENSP00000494564.1:n.*4128C>A
ENST00000645760.1:c.4864C>A
ENST00000645884.1:c.*1726C>A ENSP00000495516.1:n.*1726C>A
ENST00000646003.1:c.*2465C>A ENSP00000495259.1:n.*2465C>A
ENST00000646207.1:c.*3280C>A ENSP00000495025.1:n.*3280C>A
ENST00000646276.1:c.*3847C>A ENSP00000496070.1:n.*3847C>A
ENST00000646592.1:c.3749C>A
ENST00000646902.1:c.4410C>A ENSP00000494101.1:p.Phe1470Leu
ENST00000646993.1:c.*2881C>A ENSP00000493720.1:n.*2881C>A
ENST00000647013.1:c.4449C>A ENSP00000496741.1:n.4449C>A
ENST00000647015.1:c.4194C>A ENSP00000495389.1:p.Phe1398Leu
ENST00000647086.1:c.*4029C>A ENSP00000493677.1:n.*4029C>A
ENST00000647158.1:c.*2730C>A ENSP00000495744.1:n.*2730C>A
ENST00000302539.8:c.4446C>A ENSP00000303960.4:p.Phe1482Leu
ENST00000389817.7:c.4443C>A ENSP00000374467.3:p.Phe1481Leu
ENST00000525022.1:n.338C>A
ENST00000526037.5:n.203C>A
ENST00000526168.5:c.231C>A
ENST00000531642.5:c.474C>A
NM_000352.4:c.4443C>A NP_000343.2:p.Phe1481Leu
NM_001287174.1:c.4446C>A NP_001274103.1:p.Phe1482Leu
XM_011520331.1:c.4443C>A XP_011518633.1:p.Phe1481Leu
XM_011520332.1:c.4342C>A XP_011518634.1:p.Gln1448Lys
XM_011520333.1:c.2943C>A XP_011518635.1:p.Phe981Leu
XR_930890.1:n.4405C>A
NM_001351295.1:c.4509C>A NP_001338224.1:p.Phe1503Leu
NM_001351296.1:c.4443C>A NP_001338225.1:p.Phe1481Leu
NM_001351297.1:c.4440C>A NP_001338226.1:p.Phe1480Leu
NR_147094.1:n.4738C>A
XM_017018197.2:c.4512C>A XP_016873686.1:p.Phe1504Leu
XM_017018199.1:c.4509C>A XP_016873688.1:p.Phe1503Leu
XM_017018201.2:c.4408C>A XP_016873690.1:p.Gln1470Lys
XM_017018202.1:c.3009C>A XP_016873691.1:p.Phe1003Leu
XM_017018204.1:c.2400C>A XP_016873693.1:p.Phe800Leu
XM_024448668.1:c.2811C>A XP_024304436.1:p.Phe937Leu
XR_001747945.2:n.4480C>A
XR_001747946.2:n.4411C>A
XR_002957189.1:n.6194C>A
NM_000352.6:c.4443C>A MANE Select NP_000343.2:p.Phe1481Leu
NM_001287174.2:c.4446C>A NP_001274103.1:p.Phe1482Leu
NM_001351295.2:c.4509C>A NP_001338224.1:p.Phe1503Leu
NM_001351296.2:c.4443C>A NP_001338225.1:p.Phe1481Leu
NM_001351297.2:c.4440C>A NP_001338226.1:p.Phe1480Leu
NR_147094.2:n.4738C>A
NM_001287174.3:c.4446C>A NP_001274103.1:p.Phe1482Leu