Canonical Allele Identifier: CA379782182

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415296A>C (hg19) ; chr11:g.17393749A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393749A>C , CM000673.2:g.17393749A>C	GRCh38
NC_000011.9:g.17415296A>C , CM000673.1:g.17415296A>C	GRCh37
NC_000011.8:g.17371872A>C	NCBI36
NG_008867.1:g.88154T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4157T>G
ENST00000526037.6:n.491T>G
ENST00000528374.2:c.1147T>G
ENST00000529967.6:n.2895T>G
ENST00000532220.2:n.3789T>G
ENST00000642611.2:n.5889T>G
ENST00000644057.2:n.1132T>G
ENST00000645004.2:n.2055T>G
ENST00000682051.1:n.4718T>G
ENST00000682110.1:n.4771T>G
ENST00000682140.1:c.*342T>G	ENSP00000507829.1:n.*342T>G
ENST00000682185.1:n.5861T>G
ENST00000682204.1:c.*2694T>G	ENSP00000507094.1:n.*2694T>G
ENST00000682215.1:n.5138T>G
ENST00000682288.1:c.*2987T>G	ENSP00000507506.1:n.*2987T>G
ENST00000682442.1:n.4991T>G
ENST00000682528.1:n.4848T>G
ENST00000682673.1:n.4715T>G
ENST00000682805.1:n.5176T>G
ENST00000682965.1:c.*978T>G	ENSP00000508229.1:n.*978T>G
ENST00000683093.1:n.5751T>G
ENST00000683136.1:c.4439T>G	ENSP00000507768.1:p.Leu1480Arg
ENST00000683153.1:n.4813T>G
ENST00000683365.1:n.4873T>G
ENST00000683377.1:n.4667T>G
ENST00000683456.1:c.*1693T>G	ENSP00000508318.1:n.*1693T>G
ENST00000683522.1:n.4853T>G
ENST00000683562.1:c.*2621T>G	ENSP00000508265.1:n.*2621T>G
ENST00000683693.1:n.6232T>G
ENST00000683725.1:c.*21T>G	ENSP00000507496.1:n.*21T>G
ENST00000684010.1:n.4766T>G
ENST00000684014.1:n.743T>G
ENST00000684157.1:n.5756T>G
ENST00000684253.1:n.4674T>G
ENST00000684288.1:c.*2728T>G	ENSP00000507143.1:n.*2728T>G
ENST00000684313.1:n.4203T>G
ENST00000684332.1:n.4844T>G
ENST00000684371.1:n.4877T>G
ENST00000684404.1:n.5799T>G
ENST00000684442.1:n.4995T>G
ENST00000684555.1:c.*2768T>G	ENSP00000507705.1:n.*2768T>G
ENST00000684571.1:c.4397T>G	ENSP00000506935.1:p.Leu1466Arg
ENST00000684593.1:c.*4261T>G	ENSP00000507005.1:n.*4261T>G
ENST00000684711.1:c.*2952T>G	ENSP00000506841.1:n.*2952T>G
ENST00000302539.9:c.4559T>G	ENSP00000303960.4:p.Leu1520Arg
ENST00000389817.8:c.4556T>G MANE Select	ENSP00000374467.4:p.Leu1519Arg
ENST00000642271.1:c.4553T>G	ENSP00000493749.1:p.Leu1518Arg
ENST00000642579.1:c.2610T>G
ENST00000642611.1:n.5774T>G
ENST00000642902.1:c.4338T>G
ENST00000643260.1:c.4556T>G	ENSP00000494450.1:p.Leu1519Arg
ENST00000643562.1:c.*2678T>G	ENSP00000496124.1:n.*2678T>G
ENST00000643925.1:c.3185+517T>G
ENST00000644057.1:n.715T>G
ENST00000644484.1:c.*3942T>G	ENSP00000493558.1:n.*3942T>G
ENST00000644675.1:c.*2728T>G	ENSP00000494567.1:n.*2728T>G
ENST00000644757.1:c.*3203-769T>G	ENSP00000495085.1:n.*3203-769T>G
ENST00000644772.1:c.4622T>G	ENSP00000494321.1:p.Leu1541Arg
ENST00000645004.1:n.2249T>G
ENST00000645076.1:c.3651T>G
ENST00000645417.1:c.1744T>G
ENST00000645744.1:c.*4241T>G	ENSP00000494564.1:n.*4241T>G
ENST00000645760.1:c.4977T>G
ENST00000645884.1:c.*1839T>G	ENSP00000495516.1:n.*1839T>G
ENST00000646003.1:c.*2578T>G	ENSP00000495259.1:n.*2578T>G
ENST00000646207.1:c.*3393T>G	ENSP00000495025.1:n.*3393T>G
ENST00000646276.1:c.*3960T>G	ENSP00000496070.1:n.*3960T>G
ENST00000646592.1:c.3862T>G
ENST00000646902.1:c.4523T>G	ENSP00000494101.1:p.Leu1508Arg
ENST00000646993.1:c.*2994T>G	ENSP00000493720.1:n.*2994T>G
ENST00000647015.1:c.4307T>G	ENSP00000495389.1:p.Leu1436Arg
ENST00000647086.1:c.*4142T>G	ENSP00000493677.1:n.*4142T>G
ENST00000647158.1:c.*2843T>G	ENSP00000495744.1:n.*2843T>G
ENST00000302539.8:c.4559T>G	ENSP00000303960.4:p.Leu1520Arg
ENST00000389817.7:c.4556T>G	ENSP00000374467.3:p.Leu1519Arg
ENST00000525022.1:n.451T>G
ENST00000526037.5:n.316T>G
ENST00000526168.5:c.344T>G
ENST00000531642.5:c.587T>G
NM_000352.4:c.4556T>G	NP_000343.2:p.Leu1519Arg
NM_001287174.1:c.4559T>G	NP_001274103.1:p.Leu1520Arg
XM_011520331.1:c.4556T>G	XP_011518633.1:p.Leu1519Arg
XM_011520333.1:c.3056T>G	XP_011518635.1:p.Leu1019Arg
XR_930890.1:n.4518T>G
NM_001351295.1:c.4622T>G	NP_001338224.1:p.Leu1541Arg
NM_001351296.1:c.4556T>G	NP_001338225.1:p.Leu1519Arg
NM_001351297.1:c.4553T>G	NP_001338226.1:p.Leu1518Arg
NR_147094.1:n.4851T>G
XM_017018197.2:c.4625T>G	XP_016873686.1:p.Leu1542Arg
XM_017018199.1:c.4622T>G	XP_016873688.1:p.Leu1541Arg
XM_017018202.1:c.3122T>G	XP_016873691.1:p.Leu1041Arg
XM_017018204.1:c.2513T>G	XP_016873693.1:p.Leu838Arg
XM_024448668.1:c.2924T>G	XP_024304436.1:p.Leu975Arg
XR_001747945.2:n.4593T>G
XR_001747946.2:n.4524T>G
XR_002957189.1:n.6307T>G
NM_000352.6:c.4556T>G MANE Select	NP_000343.2:p.Leu1519Arg
NM_001287174.2:c.4559T>G	NP_001274103.1:p.Leu1520Arg
NM_001351295.2:c.4622T>G	NP_001338224.1:p.Leu1541Arg
NM_001351296.2:c.4556T>G	NP_001338225.1:p.Leu1519Arg
NM_001351297.2:c.4553T>G	NP_001338226.1:p.Leu1518Arg
NR_147094.2:n.4851T>G
NM_001287174.3:c.4559T>G	NP_001274103.1:p.Leu1520Arg