Canonical Allele Identifier: CA379785563

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17416781A>T (hg19) ; chr11:g.17395234A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395234A>T , CM000673.2:g.17395234A>T	GRCh38
NC_000011.9:g.17416781A>T , CM000673.1:g.17416781A>T	GRCh37
NC_000011.8:g.17373357A>T	NCBI36
NG_008867.1:g.86669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3950T>A
ENST00000526037.6:n.284T>A
ENST00000528374.2:c.940T>A
ENST00000529967.6:n.2688T>A
ENST00000532220.2:n.3582T>A
ENST00000642611.2:n.5682T>A
ENST00000644057.2:n.925T>A
ENST00000645004.2:n.1848T>A
ENST00000682051.1:n.4511T>A
ENST00000682110.1:n.4564T>A
ENST00000682140.1:c.*135T>A	ENSP00000507829.1:n.*135T>A
ENST00000682185.1:n.5654T>A
ENST00000682204.1:c.*2487T>A	ENSP00000507094.1:n.*2487T>A
ENST00000682215.1:n.4931T>A
ENST00000682288.1:c.*2780T>A	ENSP00000507506.1:n.*2780T>A
ENST00000682442.1:n.4784T>A
ENST00000682528.1:n.4641T>A
ENST00000682673.1:n.4508T>A
ENST00000682805.1:n.4969T>A
ENST00000682965.1:c.*771T>A	ENSP00000508229.1:n.*771T>A
ENST00000683093.1:n.5606+376T>A
ENST00000683136.1:c.4232T>A	ENSP00000507768.1:p.Leu1411Gln
ENST00000683153.1:n.4606T>A
ENST00000683365.1:n.4666T>A
ENST00000683377.1:n.4522+376T>A
ENST00000683456.1:c.*1486T>A	ENSP00000508318.1:n.*1486T>A
ENST00000683522.1:n.4564T>A
ENST00000683562.1:c.*2476+376T>A	ENSP00000508265.1:n.*2476+376T>A
ENST00000683693.1:n.6087+376T>A
ENST00000683725.1:c.4307+376T>A	ENSP00000507496.1:n.4307+376T>A
ENST00000684010.1:n.4559T>A
ENST00000684157.1:n.5549T>A
ENST00000684253.1:n.4467T>A
ENST00000684288.1:c.*2521T>A	ENSP00000507143.1:n.*2521T>A
ENST00000684313.1:n.3996T>A
ENST00000684332.1:n.4637T>A
ENST00000684371.1:n.4670T>A
ENST00000684404.1:n.5592T>A
ENST00000684442.1:n.4788T>A
ENST00000684555.1:c.*2561T>A	ENSP00000507705.1:n.*2561T>A
ENST00000684571.1:c.4190T>A	ENSP00000506935.1:p.Leu1397Gln
ENST00000684593.1:c.*4054T>A	ENSP00000507005.1:n.*4054T>A
ENST00000684711.1:c.*2745T>A	ENSP00000506841.1:n.*2745T>A
ENST00000302539.9:c.4352T>A	ENSP00000303960.4:p.Leu1451Gln
ENST00000389817.8:c.4349T>A MANE Select	ENSP00000374467.4:p.Leu1450Gln
ENST00000642271.1:c.4346T>A	ENSP00000493749.1:p.Leu1449Gln
ENST00000642579.1:c.2403T>A
ENST00000642611.1:n.5567T>A
ENST00000642902.1:c.4131T>A
ENST00000643260.1:c.4349T>A	ENSP00000494450.1:p.Leu1450Gln
ENST00000643562.1:c.*2471T>A	ENSP00000496124.1:n.*2471T>A
ENST00000643925.1:c.2989T>A
ENST00000644057.1:n.426T>A
ENST00000644484.1:c.*3735T>A	ENSP00000493558.1:n.*3735T>A
ENST00000644675.1:c.*2521T>A	ENSP00000494567.1:n.*2521T>A
ENST00000644757.1:c.*3202+1030T>A	ENSP00000495085.1:n.*3202+1030T>A
ENST00000644772.1:c.4415T>A	ENSP00000494321.1:p.Leu1472Gln
ENST00000645004.1:n.2042T>A
ENST00000645076.1:c.3506+376T>A
ENST00000645417.1:c.1537T>A
ENST00000645744.1:c.*4034T>A	ENSP00000494564.1:n.*4034T>A
ENST00000645760.1:c.4770T>A
ENST00000645884.1:c.*1632T>A	ENSP00000495516.1:n.*1632T>A
ENST00000646003.1:c.*2371T>A	ENSP00000495259.1:n.*2371T>A
ENST00000646207.1:c.*3186T>A	ENSP00000495025.1:n.*3186T>A
ENST00000646276.1:c.*3753T>A	ENSP00000496070.1:n.*3753T>A
ENST00000646592.1:c.3655T>A
ENST00000646902.1:c.4316T>A	ENSP00000494101.1:p.Leu1439Gln
ENST00000646993.1:c.*2849+376T>A	ENSP00000493720.1:n.*2849+376T>A
ENST00000647013.1:c.4355T>A	ENSP00000496741.1:n.4355T>A
ENST00000647015.1:c.4100T>A	ENSP00000495389.1:p.Leu1367Gln
ENST00000647086.1:c.*3935T>A	ENSP00000493677.1:n.*3935T>A
ENST00000647158.1:c.*2636T>A	ENSP00000495744.1:n.*2636T>A
ENST00000302539.8:c.4352T>A	ENSP00000303960.4:p.Leu1451Gln
ENST00000389817.7:c.4349T>A	ENSP00000374467.3:p.Leu1450Gln
ENST00000525022.1:n.306+376T>A
ENST00000526037.5:n.171+376T>A
ENST00000526168.5:c.137T>A
ENST00000531642.5:c.380T>A
NM_000352.4:c.4349T>A	NP_000343.2:p.Leu1450Gln
NM_001287174.1:c.4352T>A	NP_001274103.1:p.Leu1451Gln
XM_011520331.1:c.4349T>A	XP_011518633.1:p.Leu1450Gln
XM_011520332.1:c.4310+376T>A	XP_011518634.1:n.4310+376T>A
XM_011520333.1:c.2849T>A	XP_011518635.1:p.Leu950Gln
XR_930890.1:n.4373+376T>A
NM_001351295.1:c.4415T>A	NP_001338224.1:p.Leu1472Gln
NM_001351296.1:c.4349T>A	NP_001338225.1:p.Leu1450Gln
NM_001351297.1:c.4346T>A	NP_001338226.1:p.Leu1449Gln
NR_147094.1:n.4644T>A
XM_017018197.2:c.4418T>A	XP_016873686.1:p.Leu1473Gln
XM_017018199.1:c.4415T>A	XP_016873688.1:p.Leu1472Gln
XM_017018201.2:c.4376+376T>A	XP_016873690.1:n.4376+376T>A
XM_017018202.1:c.2915T>A	XP_016873691.1:p.Leu972Gln
XM_017018204.1:c.2306T>A	XP_016873693.1:p.Leu769Gln
XM_024448668.1:c.2717T>A	XP_024304436.1:p.Leu906Gln
XR_001747945.2:n.4448+376T>A
XR_001747946.2:n.4379+376T>A
XR_002957189.1:n.6162+376T>A
NM_000352.6:c.4349T>A MANE Select	NP_000343.2:p.Leu1450Gln
NM_001287174.2:c.4352T>A	NP_001274103.1:p.Leu1451Gln
NM_001351295.2:c.4415T>A	NP_001338224.1:p.Leu1472Gln
NM_001351296.2:c.4349T>A	NP_001338225.1:p.Leu1450Gln
NM_001351297.2:c.4346T>A	NP_001338226.1:p.Leu1449Gln
NR_147094.2:n.4644T>A
NM_001287174.3:c.4352T>A	NP_001274103.1:p.Leu1451Gln