Canonical Allele Identifier: CA379790360

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418491A>G (hg19) ; chr11:g.17396944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396944A>G , CM000673.2:g.17396944A>G	GRCh38
NC_000011.9:g.17418491A>G , CM000673.1:g.17418491A>G	GRCh37
NC_000011.8:g.17375067A>G	NCBI36
NG_008867.1:g.84959T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3692T>C
ENST00000528374.2:c.682T>C
ENST00000529967.6:n.2430T>C
ENST00000532220.2:n.2339T>C
ENST00000642611.2:n.4306T>C
ENST00000644057.2:n.534T>C
ENST00000645004.2:n.1590T>C
ENST00000682051.1:n.4253T>C
ENST00000682110.1:n.4306T>C
ENST00000682140.1:c.3985+249T>C	ENSP00000507829.1:n.3985+249T>C
ENST00000682185.1:n.5396T>C
ENST00000682204.1:c.*2229T>C	ENSP00000507094.1:n.*2229T>C
ENST00000682215.1:n.4673T>C
ENST00000682288.1:c.*2522T>C	ENSP00000507506.1:n.*2522T>C
ENST00000682442.1:n.4526T>C
ENST00000682528.1:n.4383T>C
ENST00000682673.1:n.4250T>C
ENST00000682805.1:n.4673T>C
ENST00000682965.1:c.*513T>C	ENSP00000508229.1:n.*513T>C
ENST00000683093.1:n.4405T>C
ENST00000683136.1:c.3974T>C	ENSP00000507768.1:p.Val1325Ala
ENST00000683153.1:n.4348T>C
ENST00000683365.1:n.4408T>C
ENST00000683377.1:n.4306T>C
ENST00000683456.1:c.*1228T>C	ENSP00000508318.1:n.*1228T>C
ENST00000683522.1:n.4306T>C
ENST00000683562.1:c.*2260T>C	ENSP00000508265.1:n.*2260T>C
ENST00000683693.1:n.4753T>C
ENST00000683725.1:c.4091T>C	ENSP00000507496.1:p.Val1364Ala
ENST00000684010.1:n.4301T>C
ENST00000684157.1:n.4306T>C
ENST00000684253.1:n.4209T>C
ENST00000684288.1:c.*2263T>C	ENSP00000507143.1:n.*2263T>C
ENST00000684313.1:n.3738T>C
ENST00000684332.1:n.4379T>C
ENST00000684371.1:n.4412T>C
ENST00000684404.1:n.4349T>C
ENST00000684442.1:n.4530T>C
ENST00000684555.1:c.*2303T>C	ENSP00000507705.1:n.*2303T>C
ENST00000684571.1:c.3932T>C	ENSP00000506935.1:p.Val1311Ala
ENST00000684593.1:c.*3796T>C	ENSP00000507005.1:n.*3796T>C
ENST00000684711.1:c.*2487T>C	ENSP00000506841.1:n.*2487T>C
ENST00000302539.9:c.4094T>C	ENSP00000303960.4:p.Val1365Ala
ENST00000389817.8:c.4091T>C MANE Select	ENSP00000374467.4:p.Val1364Ala
ENST00000642271.1:c.4088T>C	ENSP00000493749.1:p.Val1363Ala
ENST00000642579.1:c.2145T>C
ENST00000642611.1:n.4191T>C
ENST00000642902.1:c.3873T>C
ENST00000643260.1:c.4091T>C	ENSP00000494450.1:p.Val1364Ala
ENST00000643562.1:c.*2213T>C	ENSP00000496124.1:n.*2213T>C
ENST00000643925.1:c.2731T>C
ENST00000644057.1:n.168T>C
ENST00000644484.1:c.*2492T>C	ENSP00000493558.1:n.*2492T>C
ENST00000644675.1:c.*2263T>C	ENSP00000494567.1:n.*2263T>C
ENST00000644757.1:c.*2522T>C	ENSP00000495085.1:n.*2522T>C
ENST00000644772.1:c.4157T>C	ENSP00000494321.1:p.Val1386Ala
ENST00000645004.1:n.1746T>C
ENST00000645076.1:c.3290T>C
ENST00000645417.1:c.1279T>C
ENST00000645744.1:c.*2871T>C	ENSP00000494564.1:n.*2871T>C
ENST00000645760.1:c.4512T>C
ENST00000645884.1:c.*1374T>C	ENSP00000495516.1:n.*1374T>C
ENST00000646003.1:c.*2193T>C	ENSP00000495259.1:n.*2193T>C
ENST00000646207.1:c.*2928T>C	ENSP00000495025.1:n.*2928T>C
ENST00000646276.1:c.*2510T>C	ENSP00000496070.1:n.*2510T>C
ENST00000646592.1:c.3397T>C
ENST00000646902.1:c.4058T>C	ENSP00000494101.1:p.Val1353Ala
ENST00000646993.1:c.*2633T>C	ENSP00000493720.1:n.*2633T>C
ENST00000647013.1:c.4097T>C	ENSP00000496741.1:n.4097T>C
ENST00000647015.1:c.3842T>C	ENSP00000495389.1:p.Val1281Ala
ENST00000647086.1:c.*3677T>C	ENSP00000493677.1:n.*3677T>C
ENST00000647158.1:c.*2378T>C	ENSP00000495744.1:n.*2378T>C
ENST00000302539.8:c.4094T>C	ENSP00000303960.4:p.Val1365Ala
ENST00000389817.7:c.4091T>C	ENSP00000374467.3:p.Val1364Ala
ENST00000527905.5:c.*1113T>C	ENSP00000431653.1:n.*1113T>C
ENST00000528374.1:c.573T>C
ENST00000531137.1:n.656T>C
ENST00000531891.1:c.429T>C
ENST00000532220.1:n.565T>C
NM_000352.4:c.4091T>C	NP_000343.2:p.Val1364Ala
NM_001287174.1:c.4094T>C	NP_001274103.1:p.Val1365Ala
XM_011520331.1:c.4091T>C	XP_011518633.1:p.Val1364Ala
XM_011520332.1:c.4094T>C	XP_011518634.1:p.Val1365Ala
XM_011520333.1:c.2591T>C	XP_011518635.1:p.Val864Ala
XR_930890.1:n.4157T>C
NM_001351295.1:c.4157T>C	NP_001338224.1:p.Val1386Ala
NM_001351296.1:c.4091T>C	NP_001338225.1:p.Val1364Ala
NM_001351297.1:c.4088T>C	NP_001338226.1:p.Val1363Ala
NR_147094.1:n.4386T>C
XM_017018197.2:c.4160T>C	XP_016873686.1:p.Val1387Ala
XM_017018199.1:c.4157T>C	XP_016873688.1:p.Val1386Ala
XM_017018201.2:c.4160T>C	XP_016873690.1:p.Val1387Ala
XM_017018202.1:c.2657T>C	XP_016873691.1:p.Val886Ala
XM_017018204.1:c.2048T>C	XP_016873693.1:p.Val683Ala
XM_024448668.1:c.2459T>C	XP_024304436.1:p.Val820Ala
XR_001747945.2:n.4232T>C
XR_001747946.2:n.4163T>C
XR_002957189.1:n.4828T>C
NM_000352.6:c.4091T>C MANE Select	NP_000343.2:p.Val1364Ala
NM_001287174.2:c.4094T>C	NP_001274103.1:p.Val1365Ala
NM_001351295.2:c.4157T>C	NP_001338224.1:p.Val1386Ala
NM_001351296.2:c.4091T>C	NP_001338225.1:p.Val1364Ala
NM_001351297.2:c.4088T>C	NP_001338226.1:p.Val1363Ala
NR_147094.2:n.4386T>C
NM_001287174.3:c.4094T>C	NP_001274103.1:p.Val1365Ala