Canonical Allele Identifier: CA220124

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 18449
• ClinVar RCV Id: RCV000009655 ; RCV000077845
• dbSNP Id: rs72559723
• MyVariant Identifiers: chr11:g.17448671C>A (hg19) ; chr11:g.17427124C>A (hg38)
• PubMed: PMID:8751851

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17427124C>A , CM000673.2:g.17427124C>A	GRCh38
NC_000011.9:g.17448671C>A , CM000673.1:g.17448671C>A	GRCh37
NC_000011.8:g.17405247C>A	NCBI36
NG_008867.1:g.54779G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1816G>T
ENST00000529967.6:n.406G>T
ENST00000642611.2:n.2213G>T
ENST00000682051.1:n.2160G>T
ENST00000682110.1:n.2213G>T
ENST00000682140.1:c.2144G>T	ENSP00000507829.1:p.Gly715Val
ENST00000682185.1:n.3452G>T
ENST00000682204.1:c.*285G>T	ENSP00000507094.1:n.*285G>T
ENST00000682215.1:n.2213G>T
ENST00000682288.1:c.*575G>T	ENSP00000507506.1:n.*575G>T
ENST00000682442.1:n.2334G>T
ENST00000682528.1:n.2213G>T
ENST00000682673.1:n.2160G>T
ENST00000682805.1:n.2213G>T
ENST00000682965.1:c.2144G>T	ENSP00000508229.1:p.Gly715Val
ENST00000683093.1:n.2315G>T
ENST00000683136.1:c.2144G>T	ENSP00000507768.1:p.Gly715Val
ENST00000683153.1:n.2372G>T
ENST00000683253.1:n.3229G>T
ENST00000683365.1:n.2315G>T
ENST00000683377.1:n.2213G>T
ENST00000683456.1:c.2144G>T	ENSP00000508318.1:p.Gly715Val
ENST00000683522.1:n.2213G>T
ENST00000683562.1:c.*316G>T	ENSP00000508265.1:n.*316G>T
ENST00000683693.1:n.2213G>T
ENST00000683725.1:c.2147G>T	ENSP00000507496.1:p.Gly716Val
ENST00000684010.1:n.2213G>T
ENST00000684157.1:n.2213G>T
ENST00000684253.1:n.2119G>T
ENST00000684288.1:c.*316G>T	ENSP00000507143.1:n.*316G>T
ENST00000684313.1:n.1724-10162G>T
ENST00000684332.1:n.2286G>T
ENST00000684371.1:n.2319G>T
ENST00000684404.1:n.2213G>T
ENST00000684442.1:n.2213G>T
ENST00000684555.1:c.*356G>T	ENSP00000507705.1:n.*356G>T
ENST00000684571.1:c.1988G>T	ENSP00000506935.1:p.Gly663Val
ENST00000684593.1:c.*1852G>T	ENSP00000507005.1:n.*1852G>T
ENST00000684711.1:c.*543G>T	ENSP00000506841.1:n.*543G>T
ENST00000302539.9:c.2147G>T	ENSP00000303960.4:p.Gly716Val
ENST00000389817.8:c.2147G>T MANE Select	ENSP00000374467.4:p.Gly716Val
ENST00000642271.1:c.2144G>T	ENSP00000493749.1:p.Gly715Val
ENST00000642579.1:c.228G>T
ENST00000642611.1:n.2098G>T
ENST00000642902.1:c.1982G>T
ENST00000643260.1:c.2144G>T	ENSP00000494450.1:p.Gly715Val
ENST00000643562.1:c.*123G>T	ENSP00000496124.1:n.*123G>T
ENST00000643925.1:c.84G>T
ENST00000644447.1:c.500G>T	ENSP00000496282.1:p.Gly167Val
ENST00000644472.1:c.*508G>T	ENSP00000495378.1:n.*508G>T
ENST00000644484.1:c.*356G>T	ENSP00000493558.1:n.*356G>T
ENST00000644542.1:c.*1849G>T	ENSP00000495532.1:n.*1849G>T
ENST00000644675.1:c.*316G>T	ENSP00000494567.1:n.*316G>T
ENST00000644757.1:c.*449G>T	ENSP00000495085.1:n.*449G>T
ENST00000644772.1:c.2213G>T	ENSP00000494321.1:p.Gly738Val
ENST00000645076.1:c.1399G>T
ENST00000645744.1:c.*508G>T	ENSP00000494564.1:n.*508G>T
ENST00000645760.1:c.2422G>T
ENST00000645884.1:c.2144G>T	ENSP00000495516.1:p.Gly715Val
ENST00000646003.1:c.*285G>T	ENSP00000495259.1:n.*285G>T
ENST00000646207.1:c.*508G>T	ENSP00000495025.1:n.*508G>T
ENST00000646276.1:c.*417G>T	ENSP00000496070.1:n.*417G>T
ENST00000646592.1:c.1370G>T
ENST00000646902.1:c.2144G>T	ENSP00000494101.1:p.Gly715Val
ENST00000646993.1:c.*543G>T	ENSP00000493720.1:n.*543G>T
ENST00000647013.1:c.2150G>T	ENSP00000496741.1:n.2150G>T
ENST00000647015.1:c.1895G>T	ENSP00000495389.1:p.Gly632Val
ENST00000647086.1:c.*1874G>T	ENSP00000493677.1:n.*1874G>T
ENST00000647158.1:c.*285G>T	ENSP00000495744.1:n.*285G>T
ENST00000302539.8:c.2147G>T	ENSP00000303960.4:p.Gly716Val
ENST00000389817.7:c.2147G>T	ENSP00000374467.3:p.Gly716Val
ENST00000527905.5:c.2117G>T	ENSP00000431653.1:p.Gly706Val
ENST00000531911.1:n.258G>T
NM_000352.4:c.2147G>T	NP_000343.2:p.Gly716Val
NM_001287174.1:c.2147G>T	NP_001274103.1:p.Gly716Val
XM_011520331.1:c.2144G>T	XP_011518633.1:p.Gly715Val
XM_011520332.1:c.2147G>T	XP_011518634.1:p.Gly716Val
XM_011520333.1:c.644G>T	XP_011518635.1:p.Gly215Val
XM_011520334.1:c.2147G>T	XP_011518636.1:p.Gly716Val
XR_930890.1:n.2210G>T
XR_930891.1:n.2210G>T
XR_930892.1:n.2210G>T
XR_930893.1:n.2210G>T
NM_001351295.1:c.2213G>T	NP_001338224.1:p.Gly738Val
NM_001351296.1:c.2144G>T	NP_001338225.1:p.Gly715Val
NM_001351297.1:c.2144G>T	NP_001338226.1:p.Gly715Val
NR_147094.1:n.2213G>T
XM_017018197.2:c.2213G>T	XP_016873686.1:p.Gly738Val
XM_017018199.1:c.2210G>T	XP_016873688.1:p.Gly737Val
XM_017018201.2:c.2213G>T	XP_016873690.1:p.Gly738Val
XM_017018202.1:c.710G>T	XP_016873691.1:p.Gly237Val
XM_017018204.1:c.104G>T	XP_016873693.1:p.Gly35Val
XM_024448668.1:c.512G>T	XP_024304436.1:p.Gly171Val
XR_001747945.2:n.2285G>T
XR_001747946.2:n.2219G>T
XR_002957189.1:n.2285G>T
NM_000352.6:c.2147G>T MANE Select	NP_000343.2:p.Gly716Val
NM_001287174.2:c.2147G>T	NP_001274103.1:p.Gly716Val
NM_001351295.2:c.2213G>T	NP_001338224.1:p.Gly738Val
NM_001351296.2:c.2144G>T	NP_001338225.1:p.Gly715Val
NM_001351297.2:c.2144G>T	NP_001338226.1:p.Gly715Val
NR_147094.2:n.2213G>T
NM_001287174.3:c.2147G>T	NP_001274103.1:p.Gly716Val