Canonical Allele Identifier: CA379815326

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449914C>G (hg19) ; chr11:g.17428367C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428367C>G , CM000673.2:g.17428367C>G	GRCh38
NC_000011.9:g.17449914C>G , CM000673.1:g.17449914C>G	GRCh37
NC_000011.8:g.17406490C>G	NCBI36
NG_008867.1:g.53536G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1631G>C
ENST00000529967.6:n.221G>C
ENST00000642611.2:n.2028G>C
ENST00000682051.1:n.1975G>C
ENST00000682110.1:n.2028G>C
ENST00000682140.1:c.1959G>C	ENSP00000507829.1:p.Glu653Asp
ENST00000682185.1:n.3267G>C
ENST00000682204.1:c.*100G>C	ENSP00000507094.1:n.*100G>C
ENST00000682215.1:n.2028G>C
ENST00000682288.1:c.*390G>C	ENSP00000507506.1:n.*390G>C
ENST00000682442.1:n.2149G>C
ENST00000682528.1:n.2028G>C
ENST00000682673.1:n.1975G>C
ENST00000682805.1:n.2028G>C
ENST00000682965.1:c.1959G>C	ENSP00000508229.1:p.Glu653Asp
ENST00000683093.1:n.2130G>C
ENST00000683136.1:c.1959G>C	ENSP00000507768.1:p.Glu653Asp
ENST00000683153.1:n.2187G>C
ENST00000683253.1:n.3044G>C
ENST00000683365.1:n.2130G>C
ENST00000683377.1:n.2028G>C
ENST00000683456.1:c.1959G>C	ENSP00000508318.1:p.Glu653Asp
ENST00000683522.1:n.2028G>C
ENST00000683562.1:c.*131G>C	ENSP00000508265.1:n.*131G>C
ENST00000683693.1:n.2028G>C
ENST00000683725.1:c.1962G>C	ENSP00000507496.1:p.Glu654Asp
ENST00000684010.1:n.2028G>C
ENST00000684157.1:n.2028G>C
ENST00000684253.1:n.1934G>C
ENST00000684288.1:c.*131G>C	ENSP00000507143.1:n.*131G>C
ENST00000684313.1:n.1724-11405G>C
ENST00000684332.1:n.2101G>C
ENST00000684371.1:n.2134G>C
ENST00000684404.1:n.2028G>C
ENST00000684442.1:n.2028G>C
ENST00000684555.1:c.*171G>C	ENSP00000507705.1:n.*171G>C
ENST00000684571.1:c.1803G>C	ENSP00000506935.1:p.Glu601Asp
ENST00000684593.1:c.*1667G>C	ENSP00000507005.1:n.*1667G>C
ENST00000684711.1:c.*358G>C	ENSP00000506841.1:n.*358G>C
ENST00000302539.9:c.1962G>C	ENSP00000303960.4:p.Glu654Asp
ENST00000389817.8:c.1962G>C MANE Select	ENSP00000374467.4:p.Glu654Asp
ENST00000532728.6:c.1543G>C
ENST00000642271.1:c.1959G>C	ENSP00000493749.1:p.Glu653Asp
ENST00000642579.1:c.43G>C
ENST00000642611.1:n.1913G>C
ENST00000642902.1:c.1797G>C
ENST00000643260.1:c.1959G>C	ENSP00000494450.1:p.Glu653Asp
ENST00000643562.1:c.1954G>C	ENSP00000496124.1:p.Gly652Arg
ENST00000644447.1:c.315G>C	ENSP00000496282.1:p.Glu105Asp
ENST00000644472.1:c.*323G>C	ENSP00000495378.1:n.*323G>C
ENST00000644484.1:c.*171G>C	ENSP00000493558.1:n.*171G>C
ENST00000644542.1:c.*1664G>C	ENSP00000495532.1:n.*1664G>C
ENST00000644649.1:c.1132G>C
ENST00000644675.1:c.*131G>C	ENSP00000494567.1:n.*131G>C
ENST00000644757.1:c.*264G>C	ENSP00000495085.1:n.*264G>C
ENST00000644772.1:c.2028G>C	ENSP00000494321.1:p.Glu676Asp
ENST00000645076.1:c.1214G>C
ENST00000645744.1:c.*323G>C	ENSP00000494564.1:n.*323G>C
ENST00000645760.1:c.2237G>C
ENST00000645884.1:c.1959G>C	ENSP00000495516.1:p.Glu653Asp
ENST00000646003.1:c.*100G>C	ENSP00000495259.1:n.*100G>C
ENST00000646207.1:c.*323G>C	ENSP00000495025.1:n.*323G>C
ENST00000646276.1:c.*232G>C	ENSP00000496070.1:n.*232G>C
ENST00000646592.1:c.1185G>C
ENST00000646902.1:c.1959G>C	ENSP00000494101.1:p.Glu653Asp
ENST00000646993.1:c.*358G>C	ENSP00000493720.1:n.*358G>C
ENST00000647013.1:c.1965G>C	ENSP00000496741.1:n.1965G>C
ENST00000647015.1:c.1710G>C	ENSP00000495389.1:p.Glu570Asp
ENST00000647086.1:c.*1689G>C	ENSP00000493677.1:n.*1689G>C
ENST00000647158.1:c.*100G>C	ENSP00000495744.1:n.*100G>C
ENST00000302539.8:c.1962G>C	ENSP00000303960.4:p.Glu654Asp
ENST00000389817.7:c.1962G>C	ENSP00000374467.3:p.Glu654Asp
ENST00000527905.5:c.1932G>C	ENSP00000431653.1:p.Glu644Asp
NM_000352.4:c.1962G>C	NP_000343.2:p.Glu654Asp
NM_001287174.1:c.1962G>C	NP_001274103.1:p.Glu654Asp
XM_011520331.1:c.1959G>C	XP_011518633.1:p.Glu653Asp
XM_011520332.1:c.1962G>C	XP_011518634.1:p.Glu654Asp
XM_011520333.1:c.459G>C	XP_011518635.1:p.Glu153Asp
XM_011520334.1:c.1962G>C	XP_011518636.1:p.Glu654Asp
XR_930890.1:n.2025G>C
XR_930891.1:n.2025G>C
XR_930892.1:n.2025G>C
XR_930893.1:n.2025G>C
NM_001351295.1:c.2028G>C	NP_001338224.1:p.Glu676Asp
NM_001351296.1:c.1959G>C	NP_001338225.1:p.Glu653Asp
NM_001351297.1:c.1959G>C	NP_001338226.1:p.Glu653Asp
NR_147094.1:n.2028G>C
XM_017018197.2:c.2028G>C	XP_016873686.1:p.Glu676Asp
XM_017018199.1:c.2025G>C	XP_016873688.1:p.Glu675Asp
XM_017018201.2:c.2028G>C	XP_016873690.1:p.Glu676Asp
XM_017018202.1:c.525G>C	XP_016873691.1:p.Glu175Asp
XM_017018204.1:c.-82G>C	XP_016873693.1:n.-82G>C
XM_024448668.1:c.327G>C	XP_024304436.1:p.Glu109Asp
XR_001747945.2:n.2100G>C
XR_001747946.2:n.2034G>C
XR_002957189.1:n.2100G>C
NM_000352.6:c.1962G>C MANE Select	NP_000343.2:p.Glu654Asp
NM_001287174.2:c.1962G>C	NP_001274103.1:p.Glu654Asp
NM_001351295.2:c.2028G>C	NP_001338224.1:p.Glu676Asp
NM_001351296.2:c.1959G>C	NP_001338225.1:p.Glu653Asp
NM_001351297.2:c.1959G>C	NP_001338226.1:p.Glu653Asp
NR_147094.2:n.2028G>C
NM_001287174.3:c.1962G>C	NP_001274103.1:p.Glu654Asp