Canonical Allele Identifier: CA379785074

Gene: ABCC8

Linked Data

• COSMIC: COSM925469
• MyVariant Identifiers: chr11:g.17416721A>C (hg19) ; chr11:g.17395174A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395174A>C , CM000673.2:g.17395174A>C	GRCh38
NC_000011.9:g.17416721A>C , CM000673.1:g.17416721A>C	GRCh37
NC_000011.8:g.17373297A>C	NCBI36
NG_008867.1:g.86729T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4010T>G
ENST00000526037.6:n.344T>G
ENST00000528374.2:c.1000T>G
ENST00000529967.6:n.2748T>G
ENST00000532220.2:n.3642T>G
ENST00000642611.2:n.5742T>G
ENST00000644057.2:n.985T>G
ENST00000645004.2:n.1908T>G
ENST00000682051.1:n.4571T>G
ENST00000682110.1:n.4624T>G
ENST00000682140.1:c.*195T>G	ENSP00000507829.1:n.*195T>G
ENST00000682185.1:n.5714T>G
ENST00000682204.1:c.*2547T>G	ENSP00000507094.1:n.*2547T>G
ENST00000682215.1:n.4991T>G
ENST00000682288.1:c.*2840T>G	ENSP00000507506.1:n.*2840T>G
ENST00000682442.1:n.4844T>G
ENST00000682528.1:n.4701T>G
ENST00000682673.1:n.4568T>G
ENST00000682805.1:n.5029T>G
ENST00000682965.1:c.*831T>G	ENSP00000508229.1:n.*831T>G
ENST00000683093.1:n.5606+436T>G
ENST00000683136.1:c.4292T>G	ENSP00000507768.1:p.Leu1431Arg
ENST00000683153.1:n.4666T>G
ENST00000683365.1:n.4726T>G
ENST00000683377.1:n.4522+436T>G
ENST00000683456.1:c.*1546T>G	ENSP00000508318.1:n.*1546T>G
ENST00000683522.1:n.4624T>G
ENST00000683562.1:c.*2476+436T>G	ENSP00000508265.1:n.*2476+436T>G
ENST00000683693.1:n.6087+436T>G
ENST00000683725.1:c.4307+436T>G	ENSP00000507496.1:n.4307+436T>G
ENST00000684010.1:n.4619T>G
ENST00000684157.1:n.5609T>G
ENST00000684253.1:n.4527T>G
ENST00000684288.1:c.*2581T>G	ENSP00000507143.1:n.*2581T>G
ENST00000684313.1:n.4056T>G
ENST00000684332.1:n.4697T>G
ENST00000684371.1:n.4730T>G
ENST00000684404.1:n.5652T>G
ENST00000684442.1:n.4848T>G
ENST00000684555.1:c.*2621T>G	ENSP00000507705.1:n.*2621T>G
ENST00000684571.1:c.4250T>G	ENSP00000506935.1:p.Leu1417Arg
ENST00000684593.1:c.*4114T>G	ENSP00000507005.1:n.*4114T>G
ENST00000684711.1:c.*2805T>G	ENSP00000506841.1:n.*2805T>G
ENST00000302539.9:c.4412T>G	ENSP00000303960.4:p.Leu1471Arg
ENST00000389817.8:c.4409T>G MANE Select	ENSP00000374467.4:p.Leu1470Arg
ENST00000642271.1:c.4406T>G	ENSP00000493749.1:p.Leu1469Arg
ENST00000642579.1:c.2463T>G
ENST00000642611.1:n.5627T>G
ENST00000642902.1:c.4191T>G
ENST00000643260.1:c.4409T>G	ENSP00000494450.1:p.Leu1470Arg
ENST00000643562.1:c.*2531T>G	ENSP00000496124.1:n.*2531T>G
ENST00000643925.1:c.3049T>G
ENST00000644057.1:n.486T>G
ENST00000644484.1:c.*3795T>G	ENSP00000493558.1:n.*3795T>G
ENST00000644675.1:c.*2581T>G	ENSP00000494567.1:n.*2581T>G
ENST00000644757.1:c.*3202+1090T>G	ENSP00000495085.1:n.*3202+1090T>G
ENST00000644772.1:c.4475T>G	ENSP00000494321.1:p.Leu1492Arg
ENST00000645004.1:n.2102T>G
ENST00000645076.1:c.3506+436T>G
ENST00000645417.1:c.1597T>G
ENST00000645744.1:c.*4094T>G	ENSP00000494564.1:n.*4094T>G
ENST00000645760.1:c.4830T>G
ENST00000645884.1:c.*1692T>G	ENSP00000495516.1:n.*1692T>G
ENST00000646003.1:c.*2431T>G	ENSP00000495259.1:n.*2431T>G
ENST00000646207.1:c.*3246T>G	ENSP00000495025.1:n.*3246T>G
ENST00000646276.1:c.*3813T>G	ENSP00000496070.1:n.*3813T>G
ENST00000646592.1:c.3715T>G
ENST00000646902.1:c.4376T>G	ENSP00000494101.1:p.Leu1459Arg
ENST00000646993.1:c.*2849+436T>G	ENSP00000493720.1:n.*2849+436T>G
ENST00000647013.1:c.4415T>G	ENSP00000496741.1:n.4415T>G
ENST00000647015.1:c.4160T>G	ENSP00000495389.1:p.Leu1387Arg
ENST00000647086.1:c.*3995T>G	ENSP00000493677.1:n.*3995T>G
ENST00000647158.1:c.*2696T>G	ENSP00000495744.1:n.*2696T>G
ENST00000302539.8:c.4412T>G	ENSP00000303960.4:p.Leu1471Arg
ENST00000389817.7:c.4409T>G	ENSP00000374467.3:p.Leu1470Arg
ENST00000525022.1:n.306+436T>G
ENST00000526037.5:n.171+436T>G
ENST00000526168.5:c.197T>G
ENST00000531642.5:c.440T>G
NM_000352.4:c.4409T>G	NP_000343.2:p.Leu1470Arg
NM_001287174.1:c.4412T>G	NP_001274103.1:p.Leu1471Arg
XM_011520331.1:c.4409T>G	XP_011518633.1:p.Leu1470Arg
XM_011520332.1:c.4310+436T>G	XP_011518634.1:n.4310+436T>G
XM_011520333.1:c.2909T>G	XP_011518635.1:p.Leu970Arg
XR_930890.1:n.4373+436T>G
NM_001351295.1:c.4475T>G	NP_001338224.1:p.Leu1492Arg
NM_001351296.1:c.4409T>G	NP_001338225.1:p.Leu1470Arg
NM_001351297.1:c.4406T>G	NP_001338226.1:p.Leu1469Arg
NR_147094.1:n.4704T>G
XM_017018197.2:c.4478T>G	XP_016873686.1:p.Leu1493Arg
XM_017018199.1:c.4475T>G	XP_016873688.1:p.Leu1492Arg
XM_017018201.2:c.4376+436T>G	XP_016873690.1:n.4376+436T>G
XM_017018202.1:c.2975T>G	XP_016873691.1:p.Leu992Arg
XM_017018204.1:c.2366T>G	XP_016873693.1:p.Leu789Arg
XM_024448668.1:c.2777T>G	XP_024304436.1:p.Leu926Arg
XR_001747945.2:n.4448+436T>G
XR_001747946.2:n.4379+436T>G
XR_002957189.1:n.6162+436T>G
NM_000352.6:c.4409T>G MANE Select	NP_000343.2:p.Leu1470Arg
NM_001287174.2:c.4412T>G	NP_001274103.1:p.Leu1471Arg
NM_001351295.2:c.4475T>G	NP_001338224.1:p.Leu1492Arg
NM_001351296.2:c.4409T>G	NP_001338225.1:p.Leu1470Arg
NM_001351297.2:c.4406T>G	NP_001338226.1:p.Leu1469Arg
NR_147094.2:n.4704T>G
NM_001287174.3:c.4412T>G	NP_001274103.1:p.Leu1471Arg