Canonical Allele Identifier: CA379786630

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417202A>T (hg19) ; chr11:g.17395655A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395655A>T , CM000673.2:g.17395655A>T	GRCh38
NC_000011.9:g.17417202A>T , CM000673.1:g.17417202A>T	GRCh37
NC_000011.8:g.17373778A>T	NCBI36
NG_008867.1:g.86248T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3863T>A
ENST00000528374.2:c.853T>A
ENST00000529967.6:n.2601T>A
ENST00000532220.2:n.3495T>A
ENST00000642611.2:n.5595T>A
ENST00000644057.2:n.838T>A
ENST00000645004.2:n.1761T>A
ENST00000682051.1:n.4424T>A
ENST00000682110.1:n.4477T>A
ENST00000682140.1:c.*48T>A	ENSP00000507829.1:n.*48T>A
ENST00000682185.1:n.5567T>A
ENST00000682204.1:c.*2400T>A	ENSP00000507094.1:n.*2400T>A
ENST00000682215.1:n.4844T>A
ENST00000682288.1:c.*2693T>A	ENSP00000507506.1:n.*2693T>A
ENST00000682442.1:n.4697T>A
ENST00000682528.1:n.4554T>A
ENST00000682673.1:n.4421T>A
ENST00000682805.1:n.4882T>A
ENST00000682965.1:c.*684T>A	ENSP00000508229.1:n.*684T>A
ENST00000683093.1:n.5561T>A
ENST00000683136.1:c.4145T>A	ENSP00000507768.1:p.Leu1382His
ENST00000683153.1:n.4519T>A
ENST00000683365.1:n.4579T>A
ENST00000683377.1:n.4477T>A
ENST00000683456.1:c.*1399T>A	ENSP00000508318.1:n.*1399T>A
ENST00000683522.1:n.4477T>A
ENST00000683562.1:c.*2431T>A	ENSP00000508265.1:n.*2431T>A
ENST00000683693.1:n.6042T>A
ENST00000683725.1:c.4262T>A	ENSP00000507496.1:p.Leu1421His
ENST00000684010.1:n.4472T>A
ENST00000684157.1:n.5462T>A
ENST00000684253.1:n.4380T>A
ENST00000684288.1:c.*2434T>A	ENSP00000507143.1:n.*2434T>A
ENST00000684313.1:n.3909T>A
ENST00000684332.1:n.4550T>A
ENST00000684371.1:n.4583T>A
ENST00000684404.1:n.5505T>A
ENST00000684442.1:n.4701T>A
ENST00000684555.1:c.*2474T>A	ENSP00000507705.1:n.*2474T>A
ENST00000684571.1:c.4103T>A	ENSP00000506935.1:p.Leu1368His
ENST00000684593.1:c.*3967T>A	ENSP00000507005.1:n.*3967T>A
ENST00000684711.1:c.*2658T>A	ENSP00000506841.1:n.*2658T>A
ENST00000302539.9:c.4265T>A	ENSP00000303960.4:p.Leu1422His
ENST00000389817.8:c.4262T>A MANE Select	ENSP00000374467.4:p.Leu1421His
ENST00000642271.1:c.4259T>A	ENSP00000493749.1:p.Leu1420His
ENST00000642579.1:c.2316T>A
ENST00000642611.1:n.5480T>A
ENST00000642902.1:c.4044T>A
ENST00000643260.1:c.4262T>A	ENSP00000494450.1:p.Leu1421His
ENST00000643562.1:c.*2384T>A	ENSP00000496124.1:n.*2384T>A
ENST00000643925.1:c.2902T>A
ENST00000644057.1:n.339T>A
ENST00000644484.1:c.*3648T>A	ENSP00000493558.1:n.*3648T>A
ENST00000644675.1:c.*2434T>A	ENSP00000494567.1:n.*2434T>A
ENST00000644757.1:c.*3202+609T>A	ENSP00000495085.1:n.*3202+609T>A
ENST00000644772.1:c.4328T>A	ENSP00000494321.1:p.Leu1443His
ENST00000645004.1:n.1955T>A
ENST00000645076.1:c.3461T>A
ENST00000645417.1:c.1450T>A
ENST00000645744.1:c.*3964-17T>A	ENSP00000494564.1:n.*3964-17T>A
ENST00000645760.1:c.4683T>A
ENST00000645884.1:c.*1545T>A	ENSP00000495516.1:n.*1545T>A
ENST00000646003.1:c.*2301-17T>A	ENSP00000495259.1:n.*2301-17T>A
ENST00000646207.1:c.*3099T>A	ENSP00000495025.1:n.*3099T>A
ENST00000646276.1:c.*3666T>A	ENSP00000496070.1:n.*3666T>A
ENST00000646592.1:c.3568T>A
ENST00000646902.1:c.4229T>A	ENSP00000494101.1:p.Leu1410His
ENST00000646993.1:c.*2804T>A	ENSP00000493720.1:n.*2804T>A
ENST00000647013.1:c.4268T>A	ENSP00000496741.1:n.4268T>A
ENST00000647015.1:c.4013T>A	ENSP00000495389.1:p.Leu1338His
ENST00000647086.1:c.*3848T>A	ENSP00000493677.1:n.*3848T>A
ENST00000647158.1:c.*2549T>A	ENSP00000495744.1:n.*2549T>A
ENST00000302539.8:c.4265T>A	ENSP00000303960.4:p.Leu1422His
ENST00000389817.7:c.4262T>A	ENSP00000374467.3:p.Leu1421His
ENST00000525022.1:n.261T>A
ENST00000526037.5:n.126T>A
ENST00000526168.5:c.67-17T>A
ENST00000531642.5:c.98T>A
NM_000352.4:c.4262T>A	NP_000343.2:p.Leu1421His
NM_001287174.1:c.4265T>A	NP_001274103.1:p.Leu1422His
XM_011520331.1:c.4262T>A	XP_011518633.1:p.Leu1421His
XM_011520332.1:c.4265T>A	XP_011518634.1:p.Leu1422His
XM_011520333.1:c.2762T>A	XP_011518635.1:p.Leu921His
XR_930890.1:n.4328T>A
NM_001351295.1:c.4328T>A	NP_001338224.1:p.Leu1443His
NM_001351296.1:c.4262T>A	NP_001338225.1:p.Leu1421His
NM_001351297.1:c.4259T>A	NP_001338226.1:p.Leu1420His
NR_147094.1:n.4557T>A
XM_017018197.2:c.4331T>A	XP_016873686.1:p.Leu1444His
XM_017018199.1:c.4328T>A	XP_016873688.1:p.Leu1443His
XM_017018201.2:c.4331T>A	XP_016873690.1:p.Leu1444His
XM_017018202.1:c.2828T>A	XP_016873691.1:p.Leu943His
XM_017018204.1:c.2219T>A	XP_016873693.1:p.Leu740His
XM_024448668.1:c.2630T>A	XP_024304436.1:p.Leu877His
XR_001747945.2:n.4403T>A
XR_001747946.2:n.4334T>A
XR_002957189.1:n.6117T>A
NM_000352.6:c.4262T>A MANE Select	NP_000343.2:p.Leu1421His
NM_001287174.2:c.4265T>A	NP_001274103.1:p.Leu1422His
NM_001351295.2:c.4328T>A	NP_001338224.1:p.Leu1443His
NM_001351296.2:c.4262T>A	NP_001338225.1:p.Leu1421His
NM_001351297.2:c.4259T>A	NP_001338226.1:p.Leu1420His
NR_147094.2:n.4557T>A
NM_001287174.3:c.4265T>A	NP_001274103.1:p.Leu1422His