Canonical Allele Identifier: CA379790730

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418536A>G (hg19) ; chr11:g.17396989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396989A>G , CM000673.2:g.17396989A>G	GRCh38
NC_000011.9:g.17418536A>G , CM000673.1:g.17418536A>G	GRCh37
NC_000011.8:g.17375112A>G	NCBI36
NG_008867.1:g.84914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3647T>C
ENST00000528374.2:c.637T>C
ENST00000529967.6:n.2385T>C
ENST00000532220.2:n.2294T>C
ENST00000642611.2:n.4261T>C
ENST00000644057.2:n.489T>C
ENST00000645004.2:n.1545T>C
ENST00000682051.1:n.4208T>C
ENST00000682110.1:n.4261T>C
ENST00000682140.1:c.3985+204T>C	ENSP00000507829.1:n.3985+204T>C
ENST00000682185.1:n.5351T>C
ENST00000682204.1:c.*2184T>C	ENSP00000507094.1:n.*2184T>C
ENST00000682215.1:n.4628T>C
ENST00000682288.1:c.*2477T>C	ENSP00000507506.1:n.*2477T>C
ENST00000682442.1:n.4481T>C
ENST00000682528.1:n.4338T>C
ENST00000682673.1:n.4205T>C
ENST00000682805.1:n.4628T>C
ENST00000682965.1:c.*468T>C	ENSP00000508229.1:n.*468T>C
ENST00000683093.1:n.4360T>C
ENST00000683136.1:c.3929T>C	ENSP00000507768.1:p.Leu1310Pro
ENST00000683153.1:n.4303T>C
ENST00000683365.1:n.4363T>C
ENST00000683377.1:n.4261T>C
ENST00000683456.1:c.*1183T>C	ENSP00000508318.1:n.*1183T>C
ENST00000683522.1:n.4261T>C
ENST00000683562.1:c.*2215T>C	ENSP00000508265.1:n.*2215T>C
ENST00000683693.1:n.4708T>C
ENST00000683725.1:c.4046T>C	ENSP00000507496.1:p.Leu1349Pro
ENST00000684010.1:n.4256T>C
ENST00000684157.1:n.4261T>C
ENST00000684253.1:n.4164T>C
ENST00000684288.1:c.*2218T>C	ENSP00000507143.1:n.*2218T>C
ENST00000684313.1:n.3693T>C
ENST00000684332.1:n.4334T>C
ENST00000684371.1:n.4367T>C
ENST00000684404.1:n.4304T>C
ENST00000684442.1:n.4485T>C
ENST00000684555.1:c.*2258T>C	ENSP00000507705.1:n.*2258T>C
ENST00000684571.1:c.3887T>C	ENSP00000506935.1:p.Leu1296Pro
ENST00000684593.1:c.*3751T>C	ENSP00000507005.1:n.*3751T>C
ENST00000684711.1:c.*2442T>C	ENSP00000506841.1:n.*2442T>C
ENST00000302539.9:c.4049T>C	ENSP00000303960.4:p.Leu1350Pro
ENST00000389817.8:c.4046T>C MANE Select	ENSP00000374467.4:p.Leu1349Pro
ENST00000642271.1:c.4043T>C	ENSP00000493749.1:p.Leu1348Pro
ENST00000642579.1:c.2100T>C
ENST00000642611.1:n.4146T>C
ENST00000642902.1:c.3828T>C
ENST00000643260.1:c.4046T>C	ENSP00000494450.1:p.Leu1349Pro
ENST00000643562.1:c.*2168T>C	ENSP00000496124.1:n.*2168T>C
ENST00000643925.1:c.2686T>C
ENST00000644057.1:n.123T>C
ENST00000644484.1:c.*2447T>C	ENSP00000493558.1:n.*2447T>C
ENST00000644675.1:c.*2218T>C	ENSP00000494567.1:n.*2218T>C
ENST00000644757.1:c.*2477T>C	ENSP00000495085.1:n.*2477T>C
ENST00000644772.1:c.4112T>C	ENSP00000494321.1:p.Leu1371Pro
ENST00000645004.1:n.1701T>C
ENST00000645076.1:c.3245T>C
ENST00000645417.1:c.1234T>C
ENST00000645744.1:c.*2826T>C	ENSP00000494564.1:n.*2826T>C
ENST00000645760.1:c.4467T>C
ENST00000645884.1:c.*1329T>C	ENSP00000495516.1:n.*1329T>C
ENST00000646003.1:c.*2148T>C	ENSP00000495259.1:n.*2148T>C
ENST00000646207.1:c.*2883T>C	ENSP00000495025.1:n.*2883T>C
ENST00000646276.1:c.*2465T>C	ENSP00000496070.1:n.*2465T>C
ENST00000646592.1:c.3352T>C
ENST00000646902.1:c.4013T>C	ENSP00000494101.1:p.Leu1338Pro
ENST00000646993.1:c.*2588T>C	ENSP00000493720.1:n.*2588T>C
ENST00000647013.1:c.4052T>C	ENSP00000496741.1:n.4052T>C
ENST00000647015.1:c.3797T>C	ENSP00000495389.1:p.Leu1266Pro
ENST00000647086.1:c.*3632T>C	ENSP00000493677.1:n.*3632T>C
ENST00000647158.1:c.*2333T>C	ENSP00000495744.1:n.*2333T>C
ENST00000302539.8:c.4049T>C	ENSP00000303960.4:p.Leu1350Pro
ENST00000389817.7:c.4046T>C	ENSP00000374467.3:p.Leu1349Pro
ENST00000527905.5:c.*1068T>C	ENSP00000431653.1:n.*1068T>C
ENST00000528374.1:c.528T>C
ENST00000531137.1:n.611T>C
ENST00000531891.1:c.384T>C
ENST00000532220.1:n.520T>C
NM_000352.4:c.4046T>C	NP_000343.2:p.Leu1349Pro
NM_001287174.1:c.4049T>C	NP_001274103.1:p.Leu1350Pro
XM_011520331.1:c.4046T>C	XP_011518633.1:p.Leu1349Pro
XM_011520332.1:c.4049T>C	XP_011518634.1:p.Leu1350Pro
XM_011520333.1:c.2546T>C	XP_011518635.1:p.Leu849Pro
XR_930890.1:n.4112T>C
NM_001351295.1:c.4112T>C	NP_001338224.1:p.Leu1371Pro
NM_001351296.1:c.4046T>C	NP_001338225.1:p.Leu1349Pro
NM_001351297.1:c.4043T>C	NP_001338226.1:p.Leu1348Pro
NR_147094.1:n.4341T>C
XM_017018197.2:c.4115T>C	XP_016873686.1:p.Leu1372Pro
XM_017018199.1:c.4112T>C	XP_016873688.1:p.Leu1371Pro
XM_017018201.2:c.4115T>C	XP_016873690.1:p.Leu1372Pro
XM_017018202.1:c.2612T>C	XP_016873691.1:p.Leu871Pro
XM_017018204.1:c.2003T>C	XP_016873693.1:p.Leu668Pro
XM_024448668.1:c.2414T>C	XP_024304436.1:p.Leu805Pro
XR_001747945.2:n.4187T>C
XR_001747946.2:n.4118T>C
XR_002957189.1:n.4783T>C
NM_000352.6:c.4046T>C MANE Select	NP_000343.2:p.Leu1349Pro
NM_001287174.2:c.4049T>C	NP_001274103.1:p.Leu1350Pro
NM_001351295.2:c.4112T>C	NP_001338224.1:p.Leu1371Pro
NM_001351296.2:c.4046T>C	NP_001338225.1:p.Leu1349Pro
NM_001351297.2:c.4043T>C	NP_001338226.1:p.Leu1348Pro
NR_147094.2:n.4341T>C
NM_001287174.3:c.4049T>C	NP_001274103.1:p.Leu1350Pro