Canonical Allele Identifier: CA379785145

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395192-T-A
• MyVariant Identifiers: chr11:g.17416739T>A (hg19) ; chr11:g.17395192T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395192T>A , CM000673.2:g.17395192T>A	GRCh38
NC_000011.9:g.17416739T>A , CM000673.1:g.17416739T>A	GRCh37
NC_000011.8:g.17373315T>A	NCBI36
NG_008867.1:g.86711A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3992A>T
ENST00000526037.6:n.326A>T
ENST00000528374.2:c.982A>T
ENST00000529967.6:n.2730A>T
ENST00000532220.2:n.3624A>T
ENST00000642611.2:n.5724A>T
ENST00000644057.2:n.967A>T
ENST00000645004.2:n.1890A>T
ENST00000682051.1:n.4553A>T
ENST00000682110.1:n.4606A>T
ENST00000682140.1:c.*177A>T	ENSP00000507829.1:n.*177A>T
ENST00000682185.1:n.5696A>T
ENST00000682204.1:c.*2529A>T	ENSP00000507094.1:n.*2529A>T
ENST00000682215.1:n.4973A>T
ENST00000682288.1:c.*2822A>T	ENSP00000507506.1:n.*2822A>T
ENST00000682442.1:n.4826A>T
ENST00000682528.1:n.4683A>T
ENST00000682673.1:n.4550A>T
ENST00000682805.1:n.5011A>T
ENST00000682965.1:c.*813A>T	ENSP00000508229.1:n.*813A>T
ENST00000683093.1:n.5606+418A>T
ENST00000683136.1:c.4274A>T	ENSP00000507768.1:p.Lys1425Met
ENST00000683153.1:n.4648A>T
ENST00000683365.1:n.4708A>T
ENST00000683377.1:n.4522+418A>T
ENST00000683456.1:c.*1528A>T	ENSP00000508318.1:n.*1528A>T
ENST00000683522.1:n.4606A>T
ENST00000683562.1:c.*2476+418A>T	ENSP00000508265.1:n.*2476+418A>T
ENST00000683693.1:n.6087+418A>T
ENST00000683725.1:c.4307+418A>T	ENSP00000507496.1:n.4307+418A>T
ENST00000684010.1:n.4601A>T
ENST00000684157.1:n.5591A>T
ENST00000684253.1:n.4509A>T
ENST00000684288.1:c.*2563A>T	ENSP00000507143.1:n.*2563A>T
ENST00000684313.1:n.4038A>T
ENST00000684332.1:n.4679A>T
ENST00000684371.1:n.4712A>T
ENST00000684404.1:n.5634A>T
ENST00000684442.1:n.4830A>T
ENST00000684555.1:c.*2603A>T	ENSP00000507705.1:n.*2603A>T
ENST00000684571.1:c.4232A>T	ENSP00000506935.1:p.Lys1411Met
ENST00000684593.1:c.*4096A>T	ENSP00000507005.1:n.*4096A>T
ENST00000684711.1:c.*2787A>T	ENSP00000506841.1:n.*2787A>T
ENST00000302539.9:c.4394A>T	ENSP00000303960.4:p.Lys1465Met
ENST00000389817.8:c.4391A>T MANE Select	ENSP00000374467.4:p.Lys1464Met
ENST00000642271.1:c.4388A>T	ENSP00000493749.1:p.Lys1463Met
ENST00000642579.1:c.2445A>T
ENST00000642611.1:n.5609A>T
ENST00000642902.1:c.4173A>T
ENST00000643260.1:c.4391A>T	ENSP00000494450.1:p.Lys1464Met
ENST00000643562.1:c.*2513A>T	ENSP00000496124.1:n.*2513A>T
ENST00000643925.1:c.3031A>T
ENST00000644057.1:n.468A>T
ENST00000644484.1:c.*3777A>T	ENSP00000493558.1:n.*3777A>T
ENST00000644675.1:c.*2563A>T	ENSP00000494567.1:n.*2563A>T
ENST00000644757.1:c.*3202+1072A>T	ENSP00000495085.1:n.*3202+1072A>T
ENST00000644772.1:c.4457A>T	ENSP00000494321.1:p.Lys1486Met
ENST00000645004.1:n.2084A>T
ENST00000645076.1:c.3506+418A>T
ENST00000645417.1:c.1579A>T
ENST00000645744.1:c.*4076A>T	ENSP00000494564.1:n.*4076A>T
ENST00000645760.1:c.4812A>T
ENST00000645884.1:c.*1674A>T	ENSP00000495516.1:n.*1674A>T
ENST00000646003.1:c.*2413A>T	ENSP00000495259.1:n.*2413A>T
ENST00000646207.1:c.*3228A>T	ENSP00000495025.1:n.*3228A>T
ENST00000646276.1:c.*3795A>T	ENSP00000496070.1:n.*3795A>T
ENST00000646592.1:c.3697A>T
ENST00000646902.1:c.4358A>T	ENSP00000494101.1:p.Lys1453Met
ENST00000646993.1:c.*2849+418A>T	ENSP00000493720.1:n.*2849+418A>T
ENST00000647013.1:c.4397A>T	ENSP00000496741.1:n.4397A>T
ENST00000647015.1:c.4142A>T	ENSP00000495389.1:p.Lys1381Met
ENST00000647086.1:c.*3977A>T	ENSP00000493677.1:n.*3977A>T
ENST00000647158.1:c.*2678A>T	ENSP00000495744.1:n.*2678A>T
ENST00000302539.8:c.4394A>T	ENSP00000303960.4:p.Lys1465Met
ENST00000389817.7:c.4391A>T	ENSP00000374467.3:p.Lys1464Met
ENST00000525022.1:n.306+418A>T
ENST00000526037.5:n.171+418A>T
ENST00000526168.5:c.179A>T
ENST00000531642.5:c.422A>T
NM_000352.4:c.4391A>T	NP_000343.2:p.Lys1464Met
NM_001287174.1:c.4394A>T	NP_001274103.1:p.Lys1465Met
XM_011520331.1:c.4391A>T	XP_011518633.1:p.Lys1464Met
XM_011520332.1:c.4310+418A>T	XP_011518634.1:n.4310+418A>T
XM_011520333.1:c.2891A>T	XP_011518635.1:p.Lys964Met
XR_930890.1:n.4373+418A>T
NM_001351295.1:c.4457A>T	NP_001338224.1:p.Lys1486Met
NM_001351296.1:c.4391A>T	NP_001338225.1:p.Lys1464Met
NM_001351297.1:c.4388A>T	NP_001338226.1:p.Lys1463Met
NR_147094.1:n.4686A>T
XM_017018197.2:c.4460A>T	XP_016873686.1:p.Lys1487Met
XM_017018199.1:c.4457A>T	XP_016873688.1:p.Lys1486Met
XM_017018201.2:c.4376+418A>T	XP_016873690.1:n.4376+418A>T
XM_017018202.1:c.2957A>T	XP_016873691.1:p.Lys986Met
XM_017018204.1:c.2348A>T	XP_016873693.1:p.Lys783Met
XM_024448668.1:c.2759A>T	XP_024304436.1:p.Lys920Met
XR_001747945.2:n.4448+418A>T
XR_001747946.2:n.4379+418A>T
XR_002957189.1:n.6162+418A>T
NM_000352.6:c.4391A>T MANE Select	NP_000343.2:p.Lys1464Met
NM_001287174.2:c.4394A>T	NP_001274103.1:p.Lys1465Met
NM_001351295.2:c.4457A>T	NP_001338224.1:p.Lys1486Met
NM_001351296.2:c.4391A>T	NP_001338225.1:p.Lys1464Met
NM_001351297.2:c.4388A>T	NP_001338226.1:p.Lys1463Met
NR_147094.2:n.4686A>T
NM_001287174.3:c.4394A>T	NP_001274103.1:p.Lys1465Met