Canonical Allele Identifier: CA5902387

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393076C>A , CM000673.2:g.17393076C>A	GRCh38
NC_000011.9:g.17414623C>A , CM000673.1:g.17414623C>A	GRCh37
NC_000011.8:g.17371199C>A	NCBI36
NG_008867.1:g.88827G>T
NG_012446.1:g.584G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4661G>T MANE Select	NP_000343.2:p.Gly1554Val
ENST00000389817.8:c.4661G>T MANE Select	ENSP00000374467.4:p.Gly1554Val
NM_000352.4:c.4661G>T	NP_000343.2:p.Gly1554Val
NM_001287174.1:c.4664G>T	NP_001274103.1:p.Gly1555Val
NM_001287174.2:c.4664G>T	NP_001274103.1:p.Gly1555Val
NM_001287174.3:c.4664G>T	NP_001274103.1:p.Gly1555Val
NM_001351295.1:c.4727G>T	NP_001338224.1:p.Gly1576Val
NM_001351295.2:c.4727G>T	NP_001338224.1:p.Gly1576Val
NM_001351296.1:c.4661G>T	NP_001338225.1:p.Gly1554Val
NM_001351296.2:c.4661G>T	NP_001338225.1:p.Gly1554Val
NM_001351297.1:c.4658G>T	NP_001338226.1:p.Gly1553Val
NM_001351297.2:c.4658G>T	NP_001338226.1:p.Gly1553Val
NR_147094.1:n.4956G>T
NR_147094.2:n.4956G>T
ENST00000302539.8:c.4664G>T	ENSP00000303960.4:p.Gly1555Val
ENST00000302539.9:c.4664G>T	ENSP00000303960.4:p.Gly1555Val
ENST00000389817.7:c.4661G>T	ENSP00000374467.3:p.Gly1554Val
ENST00000524561.2:n.4262G>T
ENST00000525022.1:n.640G>T
ENST00000526037.5:n.421G>T
ENST00000526037.6:n.596G>T
ENST00000526168.5:c.449G>T
ENST00000528374.2:c.1252G>T
ENST00000529967.6:n.3000G>T
ENST00000531642.5:c.692G>T
ENST00000532220.2:n.3894G>T
ENST00000642271.1:c.4658G>T	ENSP00000493749.1:p.Gly1553Val
ENST00000642579.1:c.2715G>T
ENST00000642611.1:n.5879G>T
ENST00000642611.2:n.5994G>T
ENST00000642902.1:c.4443G>T
ENST00000643260.1:c.4661G>T	ENSP00000494450.1:p.Gly1554Val
ENST00000643562.1:c.*2783G>T	ENSP00000496124.1:n.*2783G>T
ENST00000643925.1:c.3238G>T
ENST00000644057.1:n.820G>T
ENST00000644057.2:n.1237G>T
ENST00000644484.1:c.*4047G>T	ENSP00000493558.1:n.*4047G>T
ENST00000644675.1:c.*2833G>T	ENSP00000494567.1:n.*2833G>T
ENST00000644757.1:c.*3203-96G>T	ENSP00000495085.1:n.*3203-96G>T
ENST00000644772.1:c.4727G>T	ENSP00000494321.1:p.Gly1576Val
ENST00000645004.1:n.2354G>T
ENST00000645004.2:n.2160G>T
ENST00000645076.1:c.3756G>T
ENST00000645417.1:c.1849G>T
ENST00000645760.1:c.5082G>T
ENST00000645884.1:c.*1944G>T	ENSP00000495516.1:n.*1944G>T
ENST00000646003.1:c.*2683G>T	ENSP00000495259.1:n.*2683G>T
ENST00000646207.1:c.*3498G>T	ENSP00000495025.1:n.*3498G>T
ENST00000646592.1:c.3967G>T
ENST00000646902.1:c.4628G>T	ENSP00000494101.1:p.Gly1543Val
ENST00000646993.1:c.*3099G>T	ENSP00000493720.1:n.*3099G>T
ENST00000647015.1:c.4412G>T	ENSP00000495389.1:p.Gly1471Val
ENST00000647086.1:c.*4247G>T	ENSP00000493677.1:n.*4247G>T
ENST00000647158.1:c.*2948G>T	ENSP00000495744.1:n.*2948G>T
ENST00000682051.1:n.4823G>T
ENST00000682110.1:n.4876G>T
ENST00000682140.1:c.*447G>T	ENSP00000507829.1:n.*447G>T
ENST00000682185.1:n.5966G>T
ENST00000682204.1:c.*2799G>T	ENSP00000507094.1:n.*2799G>T
ENST00000682215.1:n.5243G>T
ENST00000682288.1:c.*3092G>T	ENSP00000507506.1:n.*3092G>T
ENST00000682442.1:n.5096G>T
ENST00000682528.1:n.4953G>T
ENST00000682673.1:n.4820G>T
ENST00000682805.1:n.5281G>T
ENST00000682965.1:c.*1083G>T	ENSP00000508229.1:n.*1083G>T
ENST00000683093.1:n.5856G>T
ENST00000683136.1:c.4544G>T	ENSP00000507768.1:p.Gly1515Val
ENST00000683153.1:n.4918G>T
ENST00000683365.1:n.4978G>T
ENST00000683377.1:n.4772G>T
ENST00000683456.1:c.*1798G>T	ENSP00000508318.1:n.*1798G>T
ENST00000683522.1:n.4958G>T
ENST00000683562.1:c.*2726G>T	ENSP00000508265.1:n.*2726G>T
ENST00000683693.1:n.6337G>T
ENST00000683725.1:c.*126G>T	ENSP00000507496.1:n.*126G>T
ENST00000684010.1:n.4871G>T
ENST00000684014.1:n.848G>T
ENST00000684157.1:n.5861G>T
ENST00000684253.1:n.4779G>T
ENST00000684288.1:c.*2833G>T	ENSP00000507143.1:n.*2833G>T
ENST00000684313.1:n.4308G>T
ENST00000684332.1:n.4949G>T
ENST00000684371.1:n.4982G>T
ENST00000684404.1:n.5904G>T
ENST00000684442.1:n.5100G>T
ENST00000684555.1:c.*2873G>T	ENSP00000507705.1:n.*2873G>T
ENST00000684571.1:c.4502G>T	ENSP00000506935.1:p.Gly1501Val
ENST00000684593.1:c.*4366G>T	ENSP00000507005.1:n.*4366G>T
ENST00000684711.1:c.*3057G>T	ENSP00000506841.1:n.*3057G>T
XM_011520331.1:c.4661G>T	XP_011518633.1:p.Gly1554Val
XM_011520333.1:c.3161G>T	XP_011518635.1:p.Gly1054Val
XM_017018197.2:c.4730G>T	XP_016873686.1:p.Gly1577Val
XM_017018199.1:c.4727G>T	XP_016873688.1:p.Gly1576Val
XM_017018202.1:c.3227G>T	XP_016873691.1:p.Gly1076Val
XM_017018204.1:c.2618G>T	XP_016873693.1:p.Gly873Val
XM_024448668.1:c.3029G>T	XP_024304436.1:p.Gly1010Val
XR_001747945.2:n.4698G>T
XR_001747946.2:n.4629G>T
XR_002957189.1:n.6412G>T
XR_930890.1:n.4623G>T