Canonical Allele Identifier: CA379790575

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418519T>G (hg19) ; chr11:g.17396972T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396972T>G , CM000673.2:g.17396972T>G	GRCh38
NC_000011.9:g.17418519T>G , CM000673.1:g.17418519T>G	GRCh37
NC_000011.8:g.17375095T>G	NCBI36
NG_008867.1:g.84931A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3664A>C
ENST00000528374.2:c.654A>C
ENST00000529967.6:n.2402A>C
ENST00000532220.2:n.2311A>C
ENST00000642611.2:n.4278A>C
ENST00000644057.2:n.506A>C
ENST00000645004.2:n.1562A>C
ENST00000682051.1:n.4225A>C
ENST00000682110.1:n.4278A>C
ENST00000682140.1:c.3985+221A>C	ENSP00000507829.1:n.3985+221A>C
ENST00000682185.1:n.5368A>C
ENST00000682204.1:c.*2201A>C	ENSP00000507094.1:n.*2201A>C
ENST00000682215.1:n.4645A>C
ENST00000682288.1:c.*2494A>C	ENSP00000507506.1:n.*2494A>C
ENST00000682442.1:n.4498A>C
ENST00000682528.1:n.4355A>C
ENST00000682673.1:n.4222A>C
ENST00000682805.1:n.4645A>C
ENST00000682965.1:c.*485A>C	ENSP00000508229.1:n.*485A>C
ENST00000683093.1:n.4377A>C
ENST00000683136.1:c.3946A>C	ENSP00000507768.1:p.Ser1316Arg
ENST00000683153.1:n.4320A>C
ENST00000683365.1:n.4380A>C
ENST00000683377.1:n.4278A>C
ENST00000683456.1:c.*1200A>C	ENSP00000508318.1:n.*1200A>C
ENST00000683522.1:n.4278A>C
ENST00000683562.1:c.*2232A>C	ENSP00000508265.1:n.*2232A>C
ENST00000683693.1:n.4725A>C
ENST00000683725.1:c.4063A>C	ENSP00000507496.1:p.Ser1355Arg
ENST00000684010.1:n.4273A>C
ENST00000684157.1:n.4278A>C
ENST00000684253.1:n.4181A>C
ENST00000684288.1:c.*2235A>C	ENSP00000507143.1:n.*2235A>C
ENST00000684313.1:n.3710A>C
ENST00000684332.1:n.4351A>C
ENST00000684371.1:n.4384A>C
ENST00000684404.1:n.4321A>C
ENST00000684442.1:n.4502A>C
ENST00000684555.1:c.*2275A>C	ENSP00000507705.1:n.*2275A>C
ENST00000684571.1:c.3904A>C	ENSP00000506935.1:p.Ser1302Arg
ENST00000684593.1:c.*3768A>C	ENSP00000507005.1:n.*3768A>C
ENST00000684711.1:c.*2459A>C	ENSP00000506841.1:n.*2459A>C
ENST00000302539.9:c.4066A>C	ENSP00000303960.4:p.Ser1356Arg
ENST00000389817.8:c.4063A>C MANE Select	ENSP00000374467.4:p.Ser1355Arg
ENST00000642271.1:c.4060A>C	ENSP00000493749.1:p.Ser1354Arg
ENST00000642579.1:c.2117A>C
ENST00000642611.1:n.4163A>C
ENST00000642902.1:c.3845A>C
ENST00000643260.1:c.4063A>C	ENSP00000494450.1:p.Ser1355Arg
ENST00000643562.1:c.*2185A>C	ENSP00000496124.1:n.*2185A>C
ENST00000643925.1:c.2703A>C
ENST00000644057.1:n.140A>C
ENST00000644484.1:c.*2464A>C	ENSP00000493558.1:n.*2464A>C
ENST00000644675.1:c.*2235A>C	ENSP00000494567.1:n.*2235A>C
ENST00000644757.1:c.*2494A>C	ENSP00000495085.1:n.*2494A>C
ENST00000644772.1:c.4129A>C	ENSP00000494321.1:p.Ser1377Arg
ENST00000645004.1:n.1718A>C
ENST00000645076.1:c.3262A>C
ENST00000645417.1:c.1251A>C
ENST00000645744.1:c.*2843A>C	ENSP00000494564.1:n.*2843A>C
ENST00000645760.1:c.4484A>C
ENST00000645884.1:c.*1346A>C	ENSP00000495516.1:n.*1346A>C
ENST00000646003.1:c.*2165A>C	ENSP00000495259.1:n.*2165A>C
ENST00000646207.1:c.*2900A>C	ENSP00000495025.1:n.*2900A>C
ENST00000646276.1:c.*2482A>C	ENSP00000496070.1:n.*2482A>C
ENST00000646592.1:c.3369A>C
ENST00000646902.1:c.4030A>C	ENSP00000494101.1:p.Ser1344Arg
ENST00000646993.1:c.*2605A>C	ENSP00000493720.1:n.*2605A>C
ENST00000647013.1:c.4069A>C	ENSP00000496741.1:n.4069A>C
ENST00000647015.1:c.3814A>C	ENSP00000495389.1:p.Ser1272Arg
ENST00000647086.1:c.*3649A>C	ENSP00000493677.1:n.*3649A>C
ENST00000647158.1:c.*2350A>C	ENSP00000495744.1:n.*2350A>C
ENST00000302539.8:c.4066A>C	ENSP00000303960.4:p.Ser1356Arg
ENST00000389817.7:c.4063A>C	ENSP00000374467.3:p.Ser1355Arg
ENST00000527905.5:c.*1085A>C	ENSP00000431653.1:n.*1085A>C
ENST00000528374.1:c.545A>C
ENST00000531137.1:n.628A>C
ENST00000531891.1:c.401A>C
ENST00000532220.1:n.537A>C
NM_000352.4:c.4063A>C	NP_000343.2:p.Ser1355Arg
NM_001287174.1:c.4066A>C	NP_001274103.1:p.Ser1356Arg
XM_011520331.1:c.4063A>C	XP_011518633.1:p.Ser1355Arg
XM_011520332.1:c.4066A>C	XP_011518634.1:p.Ser1356Arg
XM_011520333.1:c.2563A>C	XP_011518635.1:p.Ser855Arg
XR_930890.1:n.4129A>C
NM_001351295.1:c.4129A>C	NP_001338224.1:p.Ser1377Arg
NM_001351296.1:c.4063A>C	NP_001338225.1:p.Ser1355Arg
NM_001351297.1:c.4060A>C	NP_001338226.1:p.Ser1354Arg
NR_147094.1:n.4358A>C
XM_017018197.2:c.4132A>C	XP_016873686.1:p.Ser1378Arg
XM_017018199.1:c.4129A>C	XP_016873688.1:p.Ser1377Arg
XM_017018201.2:c.4132A>C	XP_016873690.1:p.Ser1378Arg
XM_017018202.1:c.2629A>C	XP_016873691.1:p.Ser877Arg
XM_017018204.1:c.2020A>C	XP_016873693.1:p.Ser674Arg
XM_024448668.1:c.2431A>C	XP_024304436.1:p.Ser811Arg
XR_001747945.2:n.4204A>C
XR_001747946.2:n.4135A>C
XR_002957189.1:n.4800A>C
NM_000352.6:c.4063A>C MANE Select	NP_000343.2:p.Ser1355Arg
NM_001287174.2:c.4066A>C	NP_001274103.1:p.Ser1356Arg
NM_001351295.2:c.4129A>C	NP_001338224.1:p.Ser1377Arg
NM_001351296.2:c.4063A>C	NP_001338225.1:p.Ser1355Arg
NM_001351297.2:c.4060A>C	NP_001338226.1:p.Ser1354Arg
NR_147094.2:n.4358A>C
NM_001287174.3:c.4066A>C	NP_001274103.1:p.Ser1356Arg