Canonical Allele Identifier: CA379815134

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449859C>A (hg19) ; chr11:g.17428312C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428312C>A , CM000673.2:g.17428312C>A	GRCh38
NC_000011.9:g.17449859C>A , CM000673.1:g.17449859C>A	GRCh37
NC_000011.8:g.17406435C>A	NCBI36
NG_008867.1:g.53591G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1686G>T
ENST00000529967.6:n.276G>T
ENST00000642611.2:n.2083G>T
ENST00000682051.1:n.2030G>T
ENST00000682110.1:n.2083G>T
ENST00000682140.1:c.2014G>T	ENSP00000507829.1:p.Asp672Tyr
ENST00000682185.1:n.3322G>T
ENST00000682204.1:c.*155G>T	ENSP00000507094.1:n.*155G>T
ENST00000682215.1:n.2083G>T
ENST00000682288.1:c.*445G>T	ENSP00000507506.1:n.*445G>T
ENST00000682442.1:n.2204G>T
ENST00000682528.1:n.2083G>T
ENST00000682673.1:n.2030G>T
ENST00000682805.1:n.2083G>T
ENST00000682965.1:c.2014G>T	ENSP00000508229.1:p.Asp672Tyr
ENST00000683093.1:n.2185G>T
ENST00000683136.1:c.2014G>T	ENSP00000507768.1:p.Asp672Tyr
ENST00000683153.1:n.2242G>T
ENST00000683253.1:n.3099G>T
ENST00000683365.1:n.2185G>T
ENST00000683377.1:n.2083G>T
ENST00000683456.1:c.2014G>T	ENSP00000508318.1:p.Asp672Tyr
ENST00000683522.1:n.2083G>T
ENST00000683562.1:c.*186G>T	ENSP00000508265.1:n.*186G>T
ENST00000683693.1:n.2083G>T
ENST00000683725.1:c.2017G>T	ENSP00000507496.1:p.Asp673Tyr
ENST00000684010.1:n.2083G>T
ENST00000684157.1:n.2083G>T
ENST00000684253.1:n.1989G>T
ENST00000684288.1:c.*186G>T	ENSP00000507143.1:n.*186G>T
ENST00000684313.1:n.1724-11350G>T
ENST00000684332.1:n.2156G>T
ENST00000684371.1:n.2189G>T
ENST00000684404.1:n.2083G>T
ENST00000684442.1:n.2083G>T
ENST00000684555.1:c.*226G>T	ENSP00000507705.1:n.*226G>T
ENST00000684571.1:c.1858G>T	ENSP00000506935.1:p.Asp620Tyr
ENST00000684593.1:c.*1722G>T	ENSP00000507005.1:n.*1722G>T
ENST00000684711.1:c.*413G>T	ENSP00000506841.1:n.*413G>T
ENST00000302539.9:c.2017G>T	ENSP00000303960.4:p.Asp673Tyr
ENST00000389817.8:c.2017G>T MANE Select	ENSP00000374467.4:p.Asp673Tyr
ENST00000532728.6:c.1598G>T
ENST00000642271.1:c.2014G>T	ENSP00000493749.1:p.Asp672Tyr
ENST00000642579.1:c.98G>T
ENST00000642611.1:n.1968G>T
ENST00000642902.1:c.1852G>T
ENST00000643260.1:c.2014G>T	ENSP00000494450.1:p.Asp672Tyr
ENST00000643562.1:c.2009G>T	ENSP00000496124.1:p.Arg670Leu
ENST00000644447.1:c.370G>T	ENSP00000496282.1:p.Asp124Tyr
ENST00000644472.1:c.*378G>T	ENSP00000495378.1:n.*378G>T
ENST00000644484.1:c.*226G>T	ENSP00000493558.1:n.*226G>T
ENST00000644542.1:c.*1719G>T	ENSP00000495532.1:n.*1719G>T
ENST00000644649.1:c.1187G>T
ENST00000644675.1:c.*186G>T	ENSP00000494567.1:n.*186G>T
ENST00000644757.1:c.*319G>T	ENSP00000495085.1:n.*319G>T
ENST00000644772.1:c.2083G>T	ENSP00000494321.1:p.Asp695Tyr
ENST00000645076.1:c.1269G>T
ENST00000645744.1:c.*378G>T	ENSP00000494564.1:n.*378G>T
ENST00000645760.1:c.2292G>T
ENST00000645884.1:c.2014G>T	ENSP00000495516.1:p.Asp672Tyr
ENST00000646003.1:c.*155G>T	ENSP00000495259.1:n.*155G>T
ENST00000646207.1:c.*378G>T	ENSP00000495025.1:n.*378G>T
ENST00000646276.1:c.*287G>T	ENSP00000496070.1:n.*287G>T
ENST00000646592.1:c.1240G>T
ENST00000646902.1:c.2014G>T	ENSP00000494101.1:p.Asp672Tyr
ENST00000646993.1:c.*413G>T	ENSP00000493720.1:n.*413G>T
ENST00000647013.1:c.2020G>T	ENSP00000496741.1:n.2020G>T
ENST00000647015.1:c.1765G>T	ENSP00000495389.1:p.Asp589Tyr
ENST00000647086.1:c.*1744G>T	ENSP00000493677.1:n.*1744G>T
ENST00000647158.1:c.*155G>T	ENSP00000495744.1:n.*155G>T
ENST00000302539.8:c.2017G>T	ENSP00000303960.4:p.Asp673Tyr
ENST00000389817.7:c.2017G>T	ENSP00000374467.3:p.Asp673Tyr
ENST00000527905.5:c.1987G>T	ENSP00000431653.1:p.Asp663Tyr
NM_000352.4:c.2017G>T	NP_000343.2:p.Asp673Tyr
NM_001287174.1:c.2017G>T	NP_001274103.1:p.Asp673Tyr
XM_011520331.1:c.2014G>T	XP_011518633.1:p.Asp672Tyr
XM_011520332.1:c.2017G>T	XP_011518634.1:p.Asp673Tyr
XM_011520333.1:c.514G>T	XP_011518635.1:p.Asp172Tyr
XM_011520334.1:c.2017G>T	XP_011518636.1:p.Asp673Tyr
XR_930890.1:n.2080G>T
XR_930891.1:n.2080G>T
XR_930892.1:n.2080G>T
XR_930893.1:n.2080G>T
NM_001351295.1:c.2083G>T	NP_001338224.1:p.Asp695Tyr
NM_001351296.1:c.2014G>T	NP_001338225.1:p.Asp672Tyr
NM_001351297.1:c.2014G>T	NP_001338226.1:p.Asp672Tyr
NR_147094.1:n.2083G>T
XM_017018197.2:c.2083G>T	XP_016873686.1:p.Asp695Tyr
XM_017018199.1:c.2080G>T	XP_016873688.1:p.Asp694Tyr
XM_017018201.2:c.2083G>T	XP_016873690.1:p.Asp695Tyr
XM_017018202.1:c.580G>T	XP_016873691.1:p.Asp194Tyr
XM_017018204.1:c.-27G>T	XP_016873693.1:n.-27G>T
XM_024448668.1:c.382G>T	XP_024304436.1:p.Asp128Tyr
XR_001747945.2:n.2155G>T
XR_001747946.2:n.2089G>T
XR_002957189.1:n.2155G>T
NM_000352.6:c.2017G>T MANE Select	NP_000343.2:p.Asp673Tyr
NM_001287174.2:c.2017G>T	NP_001274103.1:p.Asp673Tyr
NM_001351295.2:c.2083G>T	NP_001338224.1:p.Asp695Tyr
NM_001351296.2:c.2014G>T	NP_001338225.1:p.Asp672Tyr
NM_001351297.2:c.2014G>T	NP_001338226.1:p.Asp672Tyr
NR_147094.2:n.2083G>T
NM_001287174.3:c.2017G>T	NP_001274103.1:p.Asp673Tyr