Canonical Allele Identifier: CA379790266

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418482A>C (hg19) ; chr11:g.17396935A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396935A>C , CM000673.2:g.17396935A>C	GRCh38
NC_000011.9:g.17418482A>C , CM000673.1:g.17418482A>C	GRCh37
NC_000011.8:g.17375058A>C	NCBI36
NG_008867.1:g.84968T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3701T>G
ENST00000528374.2:c.691T>G
ENST00000529967.6:n.2439T>G
ENST00000532220.2:n.2348T>G
ENST00000642611.2:n.4315T>G
ENST00000644057.2:n.543T>G
ENST00000645004.2:n.1599T>G
ENST00000682051.1:n.4262T>G
ENST00000682110.1:n.4315T>G
ENST00000682140.1:c.3985+258T>G	ENSP00000507829.1:n.3985+258T>G
ENST00000682185.1:n.5405T>G
ENST00000682204.1:c.*2238T>G	ENSP00000507094.1:n.*2238T>G
ENST00000682215.1:n.4682T>G
ENST00000682288.1:c.*2531T>G	ENSP00000507506.1:n.*2531T>G
ENST00000682442.1:n.4535T>G
ENST00000682528.1:n.4392T>G
ENST00000682673.1:n.4259T>G
ENST00000682805.1:n.4682T>G
ENST00000682965.1:c.*522T>G	ENSP00000508229.1:n.*522T>G
ENST00000683093.1:n.4414T>G
ENST00000683136.1:c.3983T>G	ENSP00000507768.1:p.Leu1328Arg
ENST00000683153.1:n.4357T>G
ENST00000683365.1:n.4417T>G
ENST00000683377.1:n.4315T>G
ENST00000683456.1:c.*1237T>G	ENSP00000508318.1:n.*1237T>G
ENST00000683522.1:n.4315T>G
ENST00000683562.1:c.*2269T>G	ENSP00000508265.1:n.*2269T>G
ENST00000683693.1:n.4762T>G
ENST00000683725.1:c.4100T>G	ENSP00000507496.1:p.Leu1367Arg
ENST00000684010.1:n.4310T>G
ENST00000684157.1:n.4315T>G
ENST00000684253.1:n.4218T>G
ENST00000684288.1:c.*2272T>G	ENSP00000507143.1:n.*2272T>G
ENST00000684313.1:n.3747T>G
ENST00000684332.1:n.4388T>G
ENST00000684371.1:n.4421T>G
ENST00000684404.1:n.4358T>G
ENST00000684442.1:n.4539T>G
ENST00000684555.1:c.*2312T>G	ENSP00000507705.1:n.*2312T>G
ENST00000684571.1:c.3941T>G	ENSP00000506935.1:p.Leu1314Arg
ENST00000684593.1:c.*3805T>G	ENSP00000507005.1:n.*3805T>G
ENST00000684711.1:c.*2496T>G	ENSP00000506841.1:n.*2496T>G
ENST00000302539.9:c.4103T>G	ENSP00000303960.4:p.Leu1368Arg
ENST00000389817.8:c.4100T>G MANE Select	ENSP00000374467.4:p.Leu1367Arg
ENST00000642271.1:c.4097T>G	ENSP00000493749.1:p.Leu1366Arg
ENST00000642579.1:c.2154T>G
ENST00000642611.1:n.4200T>G
ENST00000642902.1:c.3882T>G
ENST00000643260.1:c.4100T>G	ENSP00000494450.1:p.Leu1367Arg
ENST00000643562.1:c.*2222T>G	ENSP00000496124.1:n.*2222T>G
ENST00000643925.1:c.2740T>G
ENST00000644057.1:n.177T>G
ENST00000644484.1:c.*2501T>G	ENSP00000493558.1:n.*2501T>G
ENST00000644675.1:c.*2272T>G	ENSP00000494567.1:n.*2272T>G
ENST00000644757.1:c.*2531T>G	ENSP00000495085.1:n.*2531T>G
ENST00000644772.1:c.4166T>G	ENSP00000494321.1:p.Leu1389Arg
ENST00000645004.1:n.1755T>G
ENST00000645076.1:c.3299T>G
ENST00000645417.1:c.1288T>G
ENST00000645744.1:c.*2880T>G	ENSP00000494564.1:n.*2880T>G
ENST00000645760.1:c.4521T>G
ENST00000645884.1:c.*1383T>G	ENSP00000495516.1:n.*1383T>G
ENST00000646003.1:c.*2202T>G	ENSP00000495259.1:n.*2202T>G
ENST00000646207.1:c.*2937T>G	ENSP00000495025.1:n.*2937T>G
ENST00000646276.1:c.*2519T>G	ENSP00000496070.1:n.*2519T>G
ENST00000646592.1:c.3406T>G
ENST00000646902.1:c.4067T>G	ENSP00000494101.1:p.Leu1356Arg
ENST00000646993.1:c.*2642T>G	ENSP00000493720.1:n.*2642T>G
ENST00000647013.1:c.4106T>G	ENSP00000496741.1:n.4106T>G
ENST00000647015.1:c.3851T>G	ENSP00000495389.1:p.Leu1284Arg
ENST00000647086.1:c.*3686T>G	ENSP00000493677.1:n.*3686T>G
ENST00000647158.1:c.*2387T>G	ENSP00000495744.1:n.*2387T>G
ENST00000302539.8:c.4103T>G	ENSP00000303960.4:p.Leu1368Arg
ENST00000389817.7:c.4100T>G	ENSP00000374467.3:p.Leu1367Arg
ENST00000527905.5:c.*1122T>G	ENSP00000431653.1:n.*1122T>G
ENST00000528374.1:c.582T>G
ENST00000531137.1:n.665T>G
ENST00000531891.1:c.438T>G
ENST00000532220.1:n.574T>G
NM_000352.4:c.4100T>G	NP_000343.2:p.Leu1367Arg
NM_001287174.1:c.4103T>G	NP_001274103.1:p.Leu1368Arg
XM_011520331.1:c.4100T>G	XP_011518633.1:p.Leu1367Arg
XM_011520332.1:c.4103T>G	XP_011518634.1:p.Leu1368Arg
XM_011520333.1:c.2600T>G	XP_011518635.1:p.Leu867Arg
XR_930890.1:n.4166T>G
NM_001351295.1:c.4166T>G	NP_001338224.1:p.Leu1389Arg
NM_001351296.1:c.4100T>G	NP_001338225.1:p.Leu1367Arg
NM_001351297.1:c.4097T>G	NP_001338226.1:p.Leu1366Arg
NR_147094.1:n.4395T>G
XM_017018197.2:c.4169T>G	XP_016873686.1:p.Leu1390Arg
XM_017018199.1:c.4166T>G	XP_016873688.1:p.Leu1389Arg
XM_017018201.2:c.4169T>G	XP_016873690.1:p.Leu1390Arg
XM_017018202.1:c.2666T>G	XP_016873691.1:p.Leu889Arg
XM_017018204.1:c.2057T>G	XP_016873693.1:p.Leu686Arg
XM_024448668.1:c.2468T>G	XP_024304436.1:p.Leu823Arg
XR_001747945.2:n.4241T>G
XR_001747946.2:n.4172T>G
XR_002957189.1:n.4837T>G
NM_000352.6:c.4100T>G MANE Select	NP_000343.2:p.Leu1367Arg
NM_001287174.2:c.4103T>G	NP_001274103.1:p.Leu1368Arg
NM_001351295.2:c.4166T>G	NP_001338224.1:p.Leu1389Arg
NM_001351296.2:c.4100T>G	NP_001338225.1:p.Leu1367Arg
NM_001351297.2:c.4097T>G	NP_001338226.1:p.Leu1366Arg
NR_147094.2:n.4395T>G
NM_001287174.3:c.4103T>G	NP_001274103.1:p.Leu1368Arg