Canonical Allele Identifier: CA379785122

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17416734G>T (hg19) ; chr11:g.17395187G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395187G>T , CM000673.2:g.17395187G>T	GRCh38
NC_000011.9:g.17416734G>T , CM000673.1:g.17416734G>T	GRCh37
NC_000011.8:g.17373310G>T	NCBI36
NG_008867.1:g.86716C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3997C>A
ENST00000526037.6:n.331C>A
ENST00000528374.2:c.987C>A
ENST00000529967.6:n.2735C>A
ENST00000532220.2:n.3629C>A
ENST00000642611.2:n.5729C>A
ENST00000644057.2:n.972C>A
ENST00000645004.2:n.1895C>A
ENST00000682051.1:n.4558C>A
ENST00000682110.1:n.4611C>A
ENST00000682140.1:c.*182C>A	ENSP00000507829.1:n.*182C>A
ENST00000682185.1:n.5701C>A
ENST00000682204.1:c.*2534C>A	ENSP00000507094.1:n.*2534C>A
ENST00000682215.1:n.4978C>A
ENST00000682288.1:c.*2827C>A	ENSP00000507506.1:n.*2827C>A
ENST00000682442.1:n.4831C>A
ENST00000682528.1:n.4688C>A
ENST00000682673.1:n.4555C>A
ENST00000682805.1:n.5016C>A
ENST00000682965.1:c.*818C>A	ENSP00000508229.1:n.*818C>A
ENST00000683093.1:n.5606+423C>A
ENST00000683136.1:c.4279C>A	ENSP00000507768.1:p.Leu1427Met
ENST00000683153.1:n.4653C>A
ENST00000683365.1:n.4713C>A
ENST00000683377.1:n.4522+423C>A
ENST00000683456.1:c.*1533C>A	ENSP00000508318.1:n.*1533C>A
ENST00000683522.1:n.4611C>A
ENST00000683562.1:c.*2476+423C>A	ENSP00000508265.1:n.*2476+423C>A
ENST00000683693.1:n.6087+423C>A
ENST00000683725.1:c.4307+423C>A	ENSP00000507496.1:n.4307+423C>A
ENST00000684010.1:n.4606C>A
ENST00000684157.1:n.5596C>A
ENST00000684253.1:n.4514C>A
ENST00000684288.1:c.*2568C>A	ENSP00000507143.1:n.*2568C>A
ENST00000684313.1:n.4043C>A
ENST00000684332.1:n.4684C>A
ENST00000684371.1:n.4717C>A
ENST00000684404.1:n.5639C>A
ENST00000684442.1:n.4835C>A
ENST00000684555.1:c.*2608C>A	ENSP00000507705.1:n.*2608C>A
ENST00000684571.1:c.4237C>A	ENSP00000506935.1:p.Leu1413Met
ENST00000684593.1:c.*4101C>A	ENSP00000507005.1:n.*4101C>A
ENST00000684711.1:c.*2792C>A	ENSP00000506841.1:n.*2792C>A
ENST00000302539.9:c.4399C>A	ENSP00000303960.4:p.Leu1467Met
ENST00000389817.8:c.4396C>A MANE Select	ENSP00000374467.4:p.Leu1466Met
ENST00000642271.1:c.4393C>A	ENSP00000493749.1:p.Leu1465Met
ENST00000642579.1:c.2450C>A
ENST00000642611.1:n.5614C>A
ENST00000642902.1:c.4178C>A
ENST00000643260.1:c.4396C>A	ENSP00000494450.1:p.Leu1466Met
ENST00000643562.1:c.*2518C>A	ENSP00000496124.1:n.*2518C>A
ENST00000643925.1:c.3036C>A
ENST00000644057.1:n.473C>A
ENST00000644484.1:c.*3782C>A	ENSP00000493558.1:n.*3782C>A
ENST00000644675.1:c.*2568C>A	ENSP00000494567.1:n.*2568C>A
ENST00000644757.1:c.*3202+1077C>A	ENSP00000495085.1:n.*3202+1077C>A
ENST00000644772.1:c.4462C>A	ENSP00000494321.1:p.Leu1488Met
ENST00000645004.1:n.2089C>A
ENST00000645076.1:c.3506+423C>A
ENST00000645417.1:c.1584C>A
ENST00000645744.1:c.*4081C>A	ENSP00000494564.1:n.*4081C>A
ENST00000645760.1:c.4817C>A
ENST00000645884.1:c.*1679C>A	ENSP00000495516.1:n.*1679C>A
ENST00000646003.1:c.*2418C>A	ENSP00000495259.1:n.*2418C>A
ENST00000646207.1:c.*3233C>A	ENSP00000495025.1:n.*3233C>A
ENST00000646276.1:c.*3800C>A	ENSP00000496070.1:n.*3800C>A
ENST00000646592.1:c.3702C>A
ENST00000646902.1:c.4363C>A	ENSP00000494101.1:p.Leu1455Met
ENST00000646993.1:c.*2849+423C>A	ENSP00000493720.1:n.*2849+423C>A
ENST00000647013.1:c.4402C>A	ENSP00000496741.1:n.4402C>A
ENST00000647015.1:c.4147C>A	ENSP00000495389.1:p.Leu1383Met
ENST00000647086.1:c.*3982C>A	ENSP00000493677.1:n.*3982C>A
ENST00000647158.1:c.*2683C>A	ENSP00000495744.1:n.*2683C>A
ENST00000302539.8:c.4399C>A	ENSP00000303960.4:p.Leu1467Met
ENST00000389817.7:c.4396C>A	ENSP00000374467.3:p.Leu1466Met
ENST00000525022.1:n.306+423C>A
ENST00000526037.5:n.171+423C>A
ENST00000526168.5:c.184C>A
ENST00000531642.5:c.427C>A
NM_000352.4:c.4396C>A	NP_000343.2:p.Leu1466Met
NM_001287174.1:c.4399C>A	NP_001274103.1:p.Leu1467Met
XM_011520331.1:c.4396C>A	XP_011518633.1:p.Leu1466Met
XM_011520332.1:c.4310+423C>A	XP_011518634.1:n.4310+423C>A
XM_011520333.1:c.2896C>A	XP_011518635.1:p.Leu966Met
XR_930890.1:n.4373+423C>A
NM_001351295.1:c.4462C>A	NP_001338224.1:p.Leu1488Met
NM_001351296.1:c.4396C>A	NP_001338225.1:p.Leu1466Met
NM_001351297.1:c.4393C>A	NP_001338226.1:p.Leu1465Met
NR_147094.1:n.4691C>A
XM_017018197.2:c.4465C>A	XP_016873686.1:p.Leu1489Met
XM_017018199.1:c.4462C>A	XP_016873688.1:p.Leu1488Met
XM_017018201.2:c.4376+423C>A	XP_016873690.1:n.4376+423C>A
XM_017018202.1:c.2962C>A	XP_016873691.1:p.Leu988Met
XM_017018204.1:c.2353C>A	XP_016873693.1:p.Leu785Met
XM_024448668.1:c.2764C>A	XP_024304436.1:p.Leu922Met
XR_001747945.2:n.4448+423C>A
XR_001747946.2:n.4379+423C>A
XR_002957189.1:n.6162+423C>A
NM_000352.6:c.4396C>A MANE Select	NP_000343.2:p.Leu1466Met
NM_001287174.2:c.4399C>A	NP_001274103.1:p.Leu1467Met
NM_001351295.2:c.4462C>A	NP_001338224.1:p.Leu1488Met
NM_001351296.2:c.4396C>A	NP_001338225.1:p.Leu1466Met
NM_001351297.2:c.4393C>A	NP_001338226.1:p.Leu1465Met
NR_147094.2:n.4691C>A
NM_001287174.3:c.4399C>A	NP_001274103.1:p.Leu1467Met