Canonical Allele Identifier: CA379790545

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418513G>T (hg19) ; chr11:g.17396966G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396966G>T , CM000673.2:g.17396966G>T	GRCh38
NC_000011.9:g.17418513G>T , CM000673.1:g.17418513G>T	GRCh37
NC_000011.8:g.17375089G>T	NCBI36
NG_008867.1:g.84937C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3670C>A
ENST00000528374.2:c.660C>A
ENST00000529967.6:n.2408C>A
ENST00000532220.2:n.2317C>A
ENST00000642611.2:n.4284C>A
ENST00000644057.2:n.512C>A
ENST00000645004.2:n.1568C>A
ENST00000682051.1:n.4231C>A
ENST00000682110.1:n.4284C>A
ENST00000682140.1:c.3985+227C>A	ENSP00000507829.1:n.3985+227C>A
ENST00000682185.1:n.5374C>A
ENST00000682204.1:c.*2207C>A	ENSP00000507094.1:n.*2207C>A
ENST00000682215.1:n.4651C>A
ENST00000682288.1:c.*2500C>A	ENSP00000507506.1:n.*2500C>A
ENST00000682442.1:n.4504C>A
ENST00000682528.1:n.4361C>A
ENST00000682673.1:n.4228C>A
ENST00000682805.1:n.4651C>A
ENST00000682965.1:c.*491C>A	ENSP00000508229.1:n.*491C>A
ENST00000683093.1:n.4383C>A
ENST00000683136.1:c.3952C>A	ENSP00000507768.1:p.Leu1318Met
ENST00000683153.1:n.4326C>A
ENST00000683365.1:n.4386C>A
ENST00000683377.1:n.4284C>A
ENST00000683456.1:c.*1206C>A	ENSP00000508318.1:n.*1206C>A
ENST00000683522.1:n.4284C>A
ENST00000683562.1:c.*2238C>A	ENSP00000508265.1:n.*2238C>A
ENST00000683693.1:n.4731C>A
ENST00000683725.1:c.4069C>A	ENSP00000507496.1:p.Leu1357Met
ENST00000684010.1:n.4279C>A
ENST00000684157.1:n.4284C>A
ENST00000684253.1:n.4187C>A
ENST00000684288.1:c.*2241C>A	ENSP00000507143.1:n.*2241C>A
ENST00000684313.1:n.3716C>A
ENST00000684332.1:n.4357C>A
ENST00000684371.1:n.4390C>A
ENST00000684404.1:n.4327C>A
ENST00000684442.1:n.4508C>A
ENST00000684555.1:c.*2281C>A	ENSP00000507705.1:n.*2281C>A
ENST00000684571.1:c.3910C>A	ENSP00000506935.1:p.Leu1304Met
ENST00000684593.1:c.*3774C>A	ENSP00000507005.1:n.*3774C>A
ENST00000684711.1:c.*2465C>A	ENSP00000506841.1:n.*2465C>A
ENST00000302539.9:c.4072C>A	ENSP00000303960.4:p.Leu1358Met
ENST00000389817.8:c.4069C>A MANE Select	ENSP00000374467.4:p.Leu1357Met
ENST00000642271.1:c.4066C>A	ENSP00000493749.1:p.Leu1356Met
ENST00000642579.1:c.2123C>A
ENST00000642611.1:n.4169C>A
ENST00000642902.1:c.3851C>A
ENST00000643260.1:c.4069C>A	ENSP00000494450.1:p.Leu1357Met
ENST00000643562.1:c.*2191C>A	ENSP00000496124.1:n.*2191C>A
ENST00000643925.1:c.2709C>A
ENST00000644057.1:n.146C>A
ENST00000644484.1:c.*2470C>A	ENSP00000493558.1:n.*2470C>A
ENST00000644675.1:c.*2241C>A	ENSP00000494567.1:n.*2241C>A
ENST00000644757.1:c.*2500C>A	ENSP00000495085.1:n.*2500C>A
ENST00000644772.1:c.4135C>A	ENSP00000494321.1:p.Leu1379Met
ENST00000645004.1:n.1724C>A
ENST00000645076.1:c.3268C>A
ENST00000645417.1:c.1257C>A
ENST00000645744.1:c.*2849C>A	ENSP00000494564.1:n.*2849C>A
ENST00000645760.1:c.4490C>A
ENST00000645884.1:c.*1352C>A	ENSP00000495516.1:n.*1352C>A
ENST00000646003.1:c.*2171C>A	ENSP00000495259.1:n.*2171C>A
ENST00000646207.1:c.*2906C>A	ENSP00000495025.1:n.*2906C>A
ENST00000646276.1:c.*2488C>A	ENSP00000496070.1:n.*2488C>A
ENST00000646592.1:c.3375C>A
ENST00000646902.1:c.4036C>A	ENSP00000494101.1:p.Leu1346Met
ENST00000646993.1:c.*2611C>A	ENSP00000493720.1:n.*2611C>A
ENST00000647013.1:c.4075C>A	ENSP00000496741.1:n.4075C>A
ENST00000647015.1:c.3820C>A	ENSP00000495389.1:p.Leu1274Met
ENST00000647086.1:c.*3655C>A	ENSP00000493677.1:n.*3655C>A
ENST00000647158.1:c.*2356C>A	ENSP00000495744.1:n.*2356C>A
ENST00000302539.8:c.4072C>A	ENSP00000303960.4:p.Leu1358Met
ENST00000389817.7:c.4069C>A	ENSP00000374467.3:p.Leu1357Met
ENST00000527905.5:c.*1091C>A	ENSP00000431653.1:n.*1091C>A
ENST00000528374.1:c.551C>A
ENST00000531137.1:n.634C>A
ENST00000531891.1:c.407C>A
ENST00000532220.1:n.543C>A
NM_000352.4:c.4069C>A	NP_000343.2:p.Leu1357Met
NM_001287174.1:c.4072C>A	NP_001274103.1:p.Leu1358Met
XM_011520331.1:c.4069C>A	XP_011518633.1:p.Leu1357Met
XM_011520332.1:c.4072C>A	XP_011518634.1:p.Leu1358Met
XM_011520333.1:c.2569C>A	XP_011518635.1:p.Leu857Met
XR_930890.1:n.4135C>A
NM_001351295.1:c.4135C>A	NP_001338224.1:p.Leu1379Met
NM_001351296.1:c.4069C>A	NP_001338225.1:p.Leu1357Met
NM_001351297.1:c.4066C>A	NP_001338226.1:p.Leu1356Met
NR_147094.1:n.4364C>A
XM_017018197.2:c.4138C>A	XP_016873686.1:p.Leu1380Met
XM_017018199.1:c.4135C>A	XP_016873688.1:p.Leu1379Met
XM_017018201.2:c.4138C>A	XP_016873690.1:p.Leu1380Met
XM_017018202.1:c.2635C>A	XP_016873691.1:p.Leu879Met
XM_017018204.1:c.2026C>A	XP_016873693.1:p.Leu676Met
XM_024448668.1:c.2437C>A	XP_024304436.1:p.Leu813Met
XR_001747945.2:n.4210C>A
XR_001747946.2:n.4141C>A
XR_002957189.1:n.4806C>A
NM_000352.6:c.4069C>A MANE Select	NP_000343.2:p.Leu1357Met
NM_001287174.2:c.4072C>A	NP_001274103.1:p.Leu1358Met
NM_001351295.2:c.4135C>A	NP_001338224.1:p.Leu1379Met
NM_001351296.2:c.4069C>A	NP_001338225.1:p.Leu1357Met
NM_001351297.2:c.4066C>A	NP_001338226.1:p.Leu1356Met
NR_147094.2:n.4364C>A
NM_001287174.3:c.4072C>A	NP_001274103.1:p.Leu1358Met