Canonical Allele Identifier: CA379783158

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415871A>T (hg19) ; chr11:g.17394324A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394324A>T , CM000673.2:g.17394324A>T	GRCh38
NC_000011.9:g.17415871A>T , CM000673.1:g.17415871A>T	GRCh37
NC_000011.8:g.17372447A>T	NCBI36
NG_008867.1:g.87579T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4088T>A
ENST00000526037.6:n.422T>A
ENST00000528374.2:c.1078T>A
ENST00000529967.6:n.2826T>A
ENST00000532220.2:n.3720T>A
ENST00000642611.2:n.5820T>A
ENST00000644057.2:n.1063T>A
ENST00000645004.2:n.1986T>A
ENST00000682051.1:n.4649T>A
ENST00000682110.1:n.4702T>A
ENST00000682140.1:c.*273T>A	ENSP00000507829.1:n.*273T>A
ENST00000682185.1:n.5792T>A
ENST00000682204.1:c.*2625T>A	ENSP00000507094.1:n.*2625T>A
ENST00000682215.1:n.5069T>A
ENST00000682288.1:c.*2918T>A	ENSP00000507506.1:n.*2918T>A
ENST00000682442.1:n.4922T>A
ENST00000682528.1:n.4779T>A
ENST00000682673.1:n.4646T>A
ENST00000682805.1:n.5107T>A
ENST00000682965.1:c.*909T>A	ENSP00000508229.1:n.*909T>A
ENST00000683093.1:n.5682T>A
ENST00000683136.1:c.4370T>A	ENSP00000507768.1:p.Val1457Glu
ENST00000683153.1:n.4744T>A
ENST00000683365.1:n.4804T>A
ENST00000683377.1:n.4598T>A
ENST00000683456.1:c.*1624T>A	ENSP00000508318.1:n.*1624T>A
ENST00000683522.1:n.4784T>A
ENST00000683562.1:c.*2552T>A	ENSP00000508265.1:n.*2552T>A
ENST00000683693.1:n.6163T>A
ENST00000683725.1:c.4383T>A	ENSP00000507496.1:p.Arg1461=
ENST00000684010.1:n.4697T>A
ENST00000684014.1:n.674T>A
ENST00000684157.1:n.5687T>A
ENST00000684253.1:n.4605T>A
ENST00000684288.1:c.*2659T>A	ENSP00000507143.1:n.*2659T>A
ENST00000684313.1:n.4134T>A
ENST00000684332.1:n.4775T>A
ENST00000684371.1:n.4808T>A
ENST00000684404.1:n.5730T>A
ENST00000684442.1:n.4926T>A
ENST00000684555.1:c.*2699T>A	ENSP00000507705.1:n.*2699T>A
ENST00000684571.1:c.4328T>A	ENSP00000506935.1:p.Val1443Glu
ENST00000684593.1:c.*4192T>A	ENSP00000507005.1:n.*4192T>A
ENST00000684711.1:c.*2883T>A	ENSP00000506841.1:n.*2883T>A
ENST00000302539.9:c.4490T>A	ENSP00000303960.4:p.Val1497Glu
ENST00000389817.8:c.4487T>A MANE Select	ENSP00000374467.4:p.Val1496Glu
ENST00000642271.1:c.4484T>A	ENSP00000493749.1:p.Val1495Glu
ENST00000642579.1:c.2541T>A
ENST00000642611.1:n.5705T>A
ENST00000642902.1:c.4269T>A
ENST00000643260.1:c.4487T>A	ENSP00000494450.1:p.Val1496Glu
ENST00000643562.1:c.*2609T>A	ENSP00000496124.1:n.*2609T>A
ENST00000643925.1:c.3127T>A
ENST00000644057.1:n.646T>A
ENST00000644484.1:c.*3873T>A	ENSP00000493558.1:n.*3873T>A
ENST00000644675.1:c.*2659T>A	ENSP00000494567.1:n.*2659T>A
ENST00000644757.1:c.*3203-1344T>A	ENSP00000495085.1:n.*3203-1344T>A
ENST00000644772.1:c.4553T>A	ENSP00000494321.1:p.Val1518Glu
ENST00000645004.1:n.2180T>A
ENST00000645076.1:c.3582T>A
ENST00000645417.1:c.1675T>A
ENST00000645744.1:c.*4172T>A	ENSP00000494564.1:n.*4172T>A
ENST00000645760.1:c.4908T>A
ENST00000645884.1:c.*1770T>A	ENSP00000495516.1:n.*1770T>A
ENST00000646003.1:c.*2509T>A	ENSP00000495259.1:n.*2509T>A
ENST00000646207.1:c.*3324T>A	ENSP00000495025.1:n.*3324T>A
ENST00000646276.1:c.*3891T>A	ENSP00000496070.1:n.*3891T>A
ENST00000646592.1:c.3793T>A
ENST00000646902.1:c.4454T>A	ENSP00000494101.1:p.Val1485Glu
ENST00000646993.1:c.*2925T>A	ENSP00000493720.1:n.*2925T>A
ENST00000647013.1:c.4493T>A	ENSP00000496741.1:n.4493T>A
ENST00000647015.1:c.4238T>A	ENSP00000495389.1:p.Val1413Glu
ENST00000647086.1:c.*4073T>A	ENSP00000493677.1:n.*4073T>A
ENST00000647158.1:c.*2774T>A	ENSP00000495744.1:n.*2774T>A
ENST00000302539.8:c.4490T>A	ENSP00000303960.4:p.Val1497Glu
ENST00000389817.7:c.4487T>A	ENSP00000374467.3:p.Val1496Glu
ENST00000525022.1:n.382T>A
ENST00000526037.5:n.247T>A
ENST00000526168.5:c.275T>A
ENST00000531642.5:c.518T>A
NM_000352.4:c.4487T>A	NP_000343.2:p.Val1496Glu
NM_001287174.1:c.4490T>A	NP_001274103.1:p.Val1497Glu
XM_011520331.1:c.4487T>A	XP_011518633.1:p.Val1496Glu
XM_011520332.1:c.4386T>A	XP_011518634.1:p.Arg1462=
XM_011520333.1:c.2987T>A	XP_011518635.1:p.Val996Glu
XR_930890.1:n.4449T>A
NM_001351295.1:c.4553T>A	NP_001338224.1:p.Val1518Glu
NM_001351296.1:c.4487T>A	NP_001338225.1:p.Val1496Glu
NM_001351297.1:c.4484T>A	NP_001338226.1:p.Val1495Glu
NR_147094.1:n.4782T>A
XM_017018197.2:c.4556T>A	XP_016873686.1:p.Val1519Glu
XM_017018199.1:c.4553T>A	XP_016873688.1:p.Val1518Glu
XM_017018201.2:c.4452T>A	XP_016873690.1:p.Arg1484=
XM_017018202.1:c.3053T>A	XP_016873691.1:p.Val1018Glu
XM_017018204.1:c.2444T>A	XP_016873693.1:p.Val815Glu
XM_024448668.1:c.2855T>A	XP_024304436.1:p.Val952Glu
XR_001747945.2:n.4524T>A
XR_001747946.2:n.4455T>A
XR_002957189.1:n.6238T>A
NM_000352.6:c.4487T>A MANE Select	NP_000343.2:p.Val1496Glu
NM_001287174.2:c.4490T>A	NP_001274103.1:p.Val1497Glu
NM_001351295.2:c.4553T>A	NP_001338224.1:p.Val1518Glu
NM_001351296.2:c.4487T>A	NP_001338225.1:p.Val1496Glu
NM_001351297.2:c.4484T>A	NP_001338226.1:p.Val1495Glu
NR_147094.2:n.4782T>A
NM_001287174.3:c.4490T>A	NP_001274103.1:p.Val1497Glu