Canonical Allele Identifier: CA379782668

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415817G>A (hg19) ; chr11:g.17394270G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394270G>A , CM000673.2:g.17394270G>A	GRCh38
NC_000011.9:g.17415817G>A , CM000673.1:g.17415817G>A	GRCh37
NC_000011.8:g.17372393G>A	NCBI36
NG_008867.1:g.87633C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4142C>T
ENST00000526037.6:n.476C>T
ENST00000528374.2:c.1132C>T
ENST00000529967.6:n.2880C>T
ENST00000532220.2:n.3774C>T
ENST00000642611.2:n.5874C>T
ENST00000644057.2:n.1117C>T
ENST00000645004.2:n.2040C>T
ENST00000682051.1:n.4703C>T
ENST00000682110.1:n.4756C>T
ENST00000682140.1:c.*327C>T	ENSP00000507829.1:n.*327C>T
ENST00000682185.1:n.5846C>T
ENST00000682204.1:c.*2679C>T	ENSP00000507094.1:n.*2679C>T
ENST00000682215.1:n.5123C>T
ENST00000682288.1:c.*2972C>T	ENSP00000507506.1:n.*2972C>T
ENST00000682442.1:n.4976C>T
ENST00000682528.1:n.4833C>T
ENST00000682673.1:n.4700C>T
ENST00000682805.1:n.5161C>T
ENST00000682965.1:c.*963C>T	ENSP00000508229.1:n.*963C>T
ENST00000683093.1:n.5736C>T
ENST00000683136.1:c.4424C>T	ENSP00000507768.1:p.Ala1475Val
ENST00000683153.1:n.4798C>T
ENST00000683365.1:n.4858C>T
ENST00000683377.1:n.4652C>T
ENST00000683456.1:c.*1678C>T	ENSP00000508318.1:n.*1678C>T
ENST00000683522.1:n.4838C>T
ENST00000683562.1:c.*2606C>T	ENSP00000508265.1:n.*2606C>T
ENST00000683693.1:n.6217C>T
ENST00000683725.1:c.*6C>T	ENSP00000507496.1:n.*6C>T
ENST00000684010.1:n.4751C>T
ENST00000684014.1:n.728C>T
ENST00000684157.1:n.5741C>T
ENST00000684253.1:n.4659C>T
ENST00000684288.1:c.*2713C>T	ENSP00000507143.1:n.*2713C>T
ENST00000684313.1:n.4188C>T
ENST00000684332.1:n.4829C>T
ENST00000684371.1:n.4862C>T
ENST00000684404.1:n.5784C>T
ENST00000684442.1:n.4980C>T
ENST00000684555.1:c.*2753C>T	ENSP00000507705.1:n.*2753C>T
ENST00000684571.1:c.4382C>T	ENSP00000506935.1:p.Ala1461Val
ENST00000684593.1:c.*4246C>T	ENSP00000507005.1:n.*4246C>T
ENST00000684711.1:c.*2937C>T	ENSP00000506841.1:n.*2937C>T
ENST00000302539.9:c.4544C>T	ENSP00000303960.4:p.Ala1515Val
ENST00000389817.8:c.4541C>T MANE Select	ENSP00000374467.4:p.Ala1514Val
ENST00000642271.1:c.4538C>T	ENSP00000493749.1:p.Ala1513Val
ENST00000642579.1:c.2595C>T
ENST00000642611.1:n.5759C>T
ENST00000642902.1:c.4323C>T
ENST00000643260.1:c.4541C>T	ENSP00000494450.1:p.Ala1514Val
ENST00000643562.1:c.*2663C>T	ENSP00000496124.1:n.*2663C>T
ENST00000643925.1:c.3181C>T
ENST00000644057.1:n.700C>T
ENST00000644484.1:c.*3927C>T	ENSP00000493558.1:n.*3927C>T
ENST00000644675.1:c.*2713C>T	ENSP00000494567.1:n.*2713C>T
ENST00000644757.1:c.*3203-1290C>T	ENSP00000495085.1:n.*3203-1290C>T
ENST00000644772.1:c.4607C>T	ENSP00000494321.1:p.Ala1536Val
ENST00000645004.1:n.2234C>T
ENST00000645076.1:c.3636C>T
ENST00000645417.1:c.1729C>T
ENST00000645744.1:c.*4226C>T	ENSP00000494564.1:n.*4226C>T
ENST00000645760.1:c.4962C>T
ENST00000645884.1:c.*1824C>T	ENSP00000495516.1:n.*1824C>T
ENST00000646003.1:c.*2563C>T	ENSP00000495259.1:n.*2563C>T
ENST00000646207.1:c.*3378C>T	ENSP00000495025.1:n.*3378C>T
ENST00000646276.1:c.*3945C>T	ENSP00000496070.1:n.*3945C>T
ENST00000646592.1:c.3847C>T
ENST00000646902.1:c.4508C>T	ENSP00000494101.1:p.Ala1503Val
ENST00000646993.1:c.*2979C>T	ENSP00000493720.1:n.*2979C>T
ENST00000647015.1:c.4292C>T	ENSP00000495389.1:p.Ala1431Val
ENST00000647086.1:c.*4127C>T	ENSP00000493677.1:n.*4127C>T
ENST00000647158.1:c.*2828C>T	ENSP00000495744.1:n.*2828C>T
ENST00000302539.8:c.4544C>T	ENSP00000303960.4:p.Ala1515Val
ENST00000389817.7:c.4541C>T	ENSP00000374467.3:p.Ala1514Val
ENST00000525022.1:n.436C>T
ENST00000526037.5:n.301C>T
ENST00000526168.5:c.329C>T
ENST00000531642.5:c.572C>T
NM_000352.4:c.4541C>T	NP_000343.2:p.Ala1514Val
NM_001287174.1:c.4544C>T	NP_001274103.1:p.Ala1515Val
XM_011520331.1:c.4541C>T	XP_011518633.1:p.Ala1514Val
XM_011520332.1:c.*6C>T	XP_011518634.1:n.*6C>T
XM_011520333.1:c.3041C>T	XP_011518635.1:p.Ala1014Val
XR_930890.1:n.4503C>T
NM_001351295.1:c.4607C>T	NP_001338224.1:p.Ala1536Val
NM_001351296.1:c.4541C>T	NP_001338225.1:p.Ala1514Val
NM_001351297.1:c.4538C>T	NP_001338226.1:p.Ala1513Val
NR_147094.1:n.4836C>T
XM_017018197.2:c.4610C>T	XP_016873686.1:p.Ala1537Val
XM_017018199.1:c.4607C>T	XP_016873688.1:p.Ala1536Val
XM_017018201.2:c.*6C>T	XP_016873690.1:n.*6C>T
XM_017018202.1:c.3107C>T	XP_016873691.1:p.Ala1036Val
XM_017018204.1:c.2498C>T	XP_016873693.1:p.Ala833Val
XM_024448668.1:c.2909C>T	XP_024304436.1:p.Ala970Val
XR_001747945.2:n.4578C>T
XR_001747946.2:n.4509C>T
XR_002957189.1:n.6292C>T
NM_000352.6:c.4541C>T MANE Select	NP_000343.2:p.Ala1514Val
NM_001287174.2:c.4544C>T	NP_001274103.1:p.Ala1515Val
NM_001351295.2:c.4607C>T	NP_001338224.1:p.Ala1536Val
NM_001351296.2:c.4541C>T	NP_001338225.1:p.Ala1514Val
NM_001351297.2:c.4538C>T	NP_001338226.1:p.Ala1513Val
NR_147094.2:n.4836C>T
NM_001287174.3:c.4544C>T	NP_001274103.1:p.Ala1515Val