Canonical Allele Identifier: CA379815294

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449904C>A (hg19) ; chr11:g.17428357C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428357C>A , CM000673.2:g.17428357C>A	GRCh38
NC_000011.9:g.17449904C>A , CM000673.1:g.17449904C>A	GRCh37
NC_000011.8:g.17406480C>A	NCBI36
NG_008867.1:g.53546G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1641G>T
ENST00000529967.6:n.231G>T
ENST00000642611.2:n.2038G>T
ENST00000682051.1:n.1985G>T
ENST00000682110.1:n.2038G>T
ENST00000682140.1:c.1969G>T	ENSP00000507829.1:p.Gly657Cys
ENST00000682185.1:n.3277G>T
ENST00000682204.1:c.*110G>T	ENSP00000507094.1:n.*110G>T
ENST00000682215.1:n.2038G>T
ENST00000682288.1:c.*400G>T	ENSP00000507506.1:n.*400G>T
ENST00000682442.1:n.2159G>T
ENST00000682528.1:n.2038G>T
ENST00000682673.1:n.1985G>T
ENST00000682805.1:n.2038G>T
ENST00000682965.1:c.1969G>T	ENSP00000508229.1:p.Gly657Cys
ENST00000683093.1:n.2140G>T
ENST00000683136.1:c.1969G>T	ENSP00000507768.1:p.Gly657Cys
ENST00000683153.1:n.2197G>T
ENST00000683253.1:n.3054G>T
ENST00000683365.1:n.2140G>T
ENST00000683377.1:n.2038G>T
ENST00000683456.1:c.1969G>T	ENSP00000508318.1:p.Gly657Cys
ENST00000683522.1:n.2038G>T
ENST00000683562.1:c.*141G>T	ENSP00000508265.1:n.*141G>T
ENST00000683693.1:n.2038G>T
ENST00000683725.1:c.1972G>T	ENSP00000507496.1:p.Gly658Cys
ENST00000684010.1:n.2038G>T
ENST00000684157.1:n.2038G>T
ENST00000684253.1:n.1944G>T
ENST00000684288.1:c.*141G>T	ENSP00000507143.1:n.*141G>T
ENST00000684313.1:n.1724-11395G>T
ENST00000684332.1:n.2111G>T
ENST00000684371.1:n.2144G>T
ENST00000684404.1:n.2038G>T
ENST00000684442.1:n.2038G>T
ENST00000684555.1:c.*181G>T	ENSP00000507705.1:n.*181G>T
ENST00000684571.1:c.1813G>T	ENSP00000506935.1:p.Gly605Cys
ENST00000684593.1:c.*1677G>T	ENSP00000507005.1:n.*1677G>T
ENST00000684711.1:c.*368G>T	ENSP00000506841.1:n.*368G>T
ENST00000302539.9:c.1972G>T	ENSP00000303960.4:p.Gly658Cys
ENST00000389817.8:c.1972G>T MANE Select	ENSP00000374467.4:p.Gly658Cys
ENST00000532728.6:c.1553G>T
ENST00000642271.1:c.1969G>T	ENSP00000493749.1:p.Gly657Cys
ENST00000642579.1:c.53G>T
ENST00000642611.1:n.1923G>T
ENST00000642902.1:c.1807G>T
ENST00000643260.1:c.1969G>T	ENSP00000494450.1:p.Gly657Cys
ENST00000643562.1:c.1964G>T	ENSP00000496124.1:p.Gly655Val
ENST00000644447.1:c.325G>T	ENSP00000496282.1:p.Gly109Cys
ENST00000644472.1:c.*333G>T	ENSP00000495378.1:n.*333G>T
ENST00000644484.1:c.*181G>T	ENSP00000493558.1:n.*181G>T
ENST00000644542.1:c.*1674G>T	ENSP00000495532.1:n.*1674G>T
ENST00000644649.1:c.1142G>T
ENST00000644675.1:c.*141G>T	ENSP00000494567.1:n.*141G>T
ENST00000644757.1:c.*274G>T	ENSP00000495085.1:n.*274G>T
ENST00000644772.1:c.2038G>T	ENSP00000494321.1:p.Gly680Cys
ENST00000645076.1:c.1224G>T
ENST00000645744.1:c.*333G>T	ENSP00000494564.1:n.*333G>T
ENST00000645760.1:c.2247G>T
ENST00000645884.1:c.1969G>T	ENSP00000495516.1:p.Gly657Cys
ENST00000646003.1:c.*110G>T	ENSP00000495259.1:n.*110G>T
ENST00000646207.1:c.*333G>T	ENSP00000495025.1:n.*333G>T
ENST00000646276.1:c.*242G>T	ENSP00000496070.1:n.*242G>T
ENST00000646592.1:c.1195G>T
ENST00000646902.1:c.1969G>T	ENSP00000494101.1:p.Gly657Cys
ENST00000646993.1:c.*368G>T	ENSP00000493720.1:n.*368G>T
ENST00000647013.1:c.1975G>T	ENSP00000496741.1:n.1975G>T
ENST00000647015.1:c.1720G>T	ENSP00000495389.1:p.Gly574Cys
ENST00000647086.1:c.*1699G>T	ENSP00000493677.1:n.*1699G>T
ENST00000647158.1:c.*110G>T	ENSP00000495744.1:n.*110G>T
ENST00000302539.8:c.1972G>T	ENSP00000303960.4:p.Gly658Cys
ENST00000389817.7:c.1972G>T	ENSP00000374467.3:p.Gly658Cys
ENST00000527905.5:c.1942G>T	ENSP00000431653.1:p.Gly648Cys
NM_000352.4:c.1972G>T	NP_000343.2:p.Gly658Cys
NM_001287174.1:c.1972G>T	NP_001274103.1:p.Gly658Cys
XM_011520331.1:c.1969G>T	XP_011518633.1:p.Gly657Cys
XM_011520332.1:c.1972G>T	XP_011518634.1:p.Gly658Cys
XM_011520333.1:c.469G>T	XP_011518635.1:p.Gly157Cys
XM_011520334.1:c.1972G>T	XP_011518636.1:p.Gly658Cys
XR_930890.1:n.2035G>T
XR_930891.1:n.2035G>T
XR_930892.1:n.2035G>T
XR_930893.1:n.2035G>T
NM_001351295.1:c.2038G>T	NP_001338224.1:p.Gly680Cys
NM_001351296.1:c.1969G>T	NP_001338225.1:p.Gly657Cys
NM_001351297.1:c.1969G>T	NP_001338226.1:p.Gly657Cys
NR_147094.1:n.2038G>T
XM_017018197.2:c.2038G>T	XP_016873686.1:p.Gly680Cys
XM_017018199.1:c.2035G>T	XP_016873688.1:p.Gly679Cys
XM_017018201.2:c.2038G>T	XP_016873690.1:p.Gly680Cys
XM_017018202.1:c.535G>T	XP_016873691.1:p.Gly179Cys
XM_017018204.1:c.-72G>T	XP_016873693.1:n.-72G>T
XM_024448668.1:c.337G>T	XP_024304436.1:p.Gly113Cys
XR_001747945.2:n.2110G>T
XR_001747946.2:n.2044G>T
XR_002957189.1:n.2110G>T
NM_000352.6:c.1972G>T MANE Select	NP_000343.2:p.Gly658Cys
NM_001287174.2:c.1972G>T	NP_001274103.1:p.Gly658Cys
NM_001351295.2:c.2038G>T	NP_001338224.1:p.Gly680Cys
NM_001351296.2:c.1969G>T	NP_001338225.1:p.Gly657Cys
NM_001351297.2:c.1969G>T	NP_001338226.1:p.Gly657Cys
NR_147094.2:n.2038G>T
NM_001287174.3:c.1972G>T	NP_001274103.1:p.Gly658Cys