Canonical Allele Identifier: CA379785787

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395252-T-C
• MyVariant Identifiers: chr11:g.17416799T>C (hg19) ; chr11:g.17395252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395252T>C , CM000673.2:g.17395252T>C	GRCh38
NC_000011.9:g.17416799T>C , CM000673.1:g.17416799T>C	GRCh37
NC_000011.8:g.17373375T>C	NCBI36
NG_008867.1:g.86651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3932A>G
ENST00000526037.6:n.266A>G
ENST00000528374.2:c.922A>G
ENST00000529967.6:n.2670A>G
ENST00000532220.2:n.3564A>G
ENST00000642611.2:n.5664A>G
ENST00000644057.2:n.907A>G
ENST00000645004.2:n.1830A>G
ENST00000682051.1:n.4493A>G
ENST00000682110.1:n.4546A>G
ENST00000682140.1:c.*117A>G	ENSP00000507829.1:n.*117A>G
ENST00000682185.1:n.5636A>G
ENST00000682204.1:c.*2469A>G	ENSP00000507094.1:n.*2469A>G
ENST00000682215.1:n.4913A>G
ENST00000682288.1:c.*2762A>G	ENSP00000507506.1:n.*2762A>G
ENST00000682442.1:n.4766A>G
ENST00000682528.1:n.4623A>G
ENST00000682673.1:n.4490A>G
ENST00000682805.1:n.4951A>G
ENST00000682965.1:c.*753A>G	ENSP00000508229.1:n.*753A>G
ENST00000683093.1:n.5606+358A>G
ENST00000683136.1:c.4214A>G	ENSP00000507768.1:p.Lys1405Arg
ENST00000683153.1:n.4588A>G
ENST00000683365.1:n.4648A>G
ENST00000683377.1:n.4522+358A>G
ENST00000683456.1:c.*1468A>G	ENSP00000508318.1:n.*1468A>G
ENST00000683522.1:n.4546A>G
ENST00000683562.1:c.*2476+358A>G	ENSP00000508265.1:n.*2476+358A>G
ENST00000683693.1:n.6087+358A>G
ENST00000683725.1:c.4307+358A>G	ENSP00000507496.1:n.4307+358A>G
ENST00000684010.1:n.4541A>G
ENST00000684157.1:n.5531A>G
ENST00000684253.1:n.4449A>G
ENST00000684288.1:c.*2503A>G	ENSP00000507143.1:n.*2503A>G
ENST00000684313.1:n.3978A>G
ENST00000684332.1:n.4619A>G
ENST00000684371.1:n.4652A>G
ENST00000684404.1:n.5574A>G
ENST00000684442.1:n.4770A>G
ENST00000684555.1:c.*2543A>G	ENSP00000507705.1:n.*2543A>G
ENST00000684571.1:c.4172A>G	ENSP00000506935.1:p.Lys1391Arg
ENST00000684593.1:c.*4036A>G	ENSP00000507005.1:n.*4036A>G
ENST00000684711.1:c.*2727A>G	ENSP00000506841.1:n.*2727A>G
ENST00000302539.9:c.4334A>G	ENSP00000303960.4:p.Lys1445Arg
ENST00000389817.8:c.4331A>G MANE Select	ENSP00000374467.4:p.Lys1444Arg
ENST00000642271.1:c.4328A>G	ENSP00000493749.1:p.Lys1443Arg
ENST00000642579.1:c.2385A>G
ENST00000642611.1:n.5549A>G
ENST00000642902.1:c.4113A>G
ENST00000643260.1:c.4331A>G	ENSP00000494450.1:p.Lys1444Arg
ENST00000643562.1:c.*2453A>G	ENSP00000496124.1:n.*2453A>G
ENST00000643925.1:c.2971A>G
ENST00000644057.1:n.408A>G
ENST00000644484.1:c.*3717A>G	ENSP00000493558.1:n.*3717A>G
ENST00000644675.1:c.*2503A>G	ENSP00000494567.1:n.*2503A>G
ENST00000644757.1:c.*3202+1012A>G	ENSP00000495085.1:n.*3202+1012A>G
ENST00000644772.1:c.4397A>G	ENSP00000494321.1:p.Lys1466Arg
ENST00000645004.1:n.2024A>G
ENST00000645076.1:c.3506+358A>G
ENST00000645417.1:c.1519A>G
ENST00000645744.1:c.*4016A>G	ENSP00000494564.1:n.*4016A>G
ENST00000645760.1:c.4752A>G
ENST00000645884.1:c.*1614A>G	ENSP00000495516.1:n.*1614A>G
ENST00000646003.1:c.*2353A>G	ENSP00000495259.1:n.*2353A>G
ENST00000646207.1:c.*3168A>G	ENSP00000495025.1:n.*3168A>G
ENST00000646276.1:c.*3735A>G	ENSP00000496070.1:n.*3735A>G
ENST00000646592.1:c.3637A>G
ENST00000646902.1:c.4298A>G	ENSP00000494101.1:p.Lys1433Arg
ENST00000646993.1:c.*2849+358A>G	ENSP00000493720.1:n.*2849+358A>G
ENST00000647013.1:c.4337A>G	ENSP00000496741.1:n.4337A>G
ENST00000647015.1:c.4082A>G	ENSP00000495389.1:p.Lys1361Arg
ENST00000647086.1:c.*3917A>G	ENSP00000493677.1:n.*3917A>G
ENST00000647158.1:c.*2618A>G	ENSP00000495744.1:n.*2618A>G
ENST00000302539.8:c.4334A>G	ENSP00000303960.4:p.Lys1445Arg
ENST00000389817.7:c.4331A>G	ENSP00000374467.3:p.Lys1444Arg
ENST00000525022.1:n.306+358A>G
ENST00000526037.5:n.171+358A>G
ENST00000526168.5:c.119A>G
ENST00000531642.5:c.362A>G
NM_000352.4:c.4331A>G	NP_000343.2:p.Lys1444Arg
NM_001287174.1:c.4334A>G	NP_001274103.1:p.Lys1445Arg
XM_011520331.1:c.4331A>G	XP_011518633.1:p.Lys1444Arg
XM_011520332.1:c.4310+358A>G	XP_011518634.1:n.4310+358A>G
XM_011520333.1:c.2831A>G	XP_011518635.1:p.Lys944Arg
XR_930890.1:n.4373+358A>G
NM_001351295.1:c.4397A>G	NP_001338224.1:p.Lys1466Arg
NM_001351296.1:c.4331A>G	NP_001338225.1:p.Lys1444Arg
NM_001351297.1:c.4328A>G	NP_001338226.1:p.Lys1443Arg
NR_147094.1:n.4626A>G
XM_017018197.2:c.4400A>G	XP_016873686.1:p.Lys1467Arg
XM_017018199.1:c.4397A>G	XP_016873688.1:p.Lys1466Arg
XM_017018201.2:c.4376+358A>G	XP_016873690.1:n.4376+358A>G
XM_017018202.1:c.2897A>G	XP_016873691.1:p.Lys966Arg
XM_017018204.1:c.2288A>G	XP_016873693.1:p.Lys763Arg
XM_024448668.1:c.2699A>G	XP_024304436.1:p.Lys900Arg
XR_001747945.2:n.4448+358A>G
XR_001747946.2:n.4379+358A>G
XR_002957189.1:n.6162+358A>G
NM_000352.6:c.4331A>G MANE Select	NP_000343.2:p.Lys1444Arg
NM_001287174.2:c.4334A>G	NP_001274103.1:p.Lys1445Arg
NM_001351295.2:c.4397A>G	NP_001338224.1:p.Lys1466Arg
NM_001351296.2:c.4331A>G	NP_001338225.1:p.Lys1444Arg
NM_001351297.2:c.4328A>G	NP_001338226.1:p.Lys1443Arg
NR_147094.2:n.4626A>G
NM_001287174.3:c.4334A>G	NP_001274103.1:p.Lys1445Arg