Canonical Allele Identifier: CA473516019

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449839G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428292G>A , CM000673.2:g.17428292G>A	GRCh38
NC_000011.9:g.17449839G>A , CM000673.1:g.17449839G>A	GRCh37
NC_000011.8:g.17406415G>A	NCBI36
NG_008867.1:g.53611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1706C>T
ENST00000529967.6:n.296C>T
ENST00000642611.2:n.2103C>T
ENST00000682051.1:n.2050C>T
ENST00000682110.1:n.2103C>T
ENST00000682140.1:c.2034C>T	ENSP00000507829.1:p.Val678=
ENST00000682185.1:n.3342C>T
ENST00000682204.1:c.*175C>T	ENSP00000507094.1:n.*175C>T
ENST00000682215.1:n.2103C>T
ENST00000682288.1:c.*465C>T	ENSP00000507506.1:n.*465C>T
ENST00000682442.1:n.2224C>T
ENST00000682528.1:n.2103C>T
ENST00000682673.1:n.2050C>T
ENST00000682805.1:n.2103C>T
ENST00000682965.1:c.2034C>T	ENSP00000508229.1:p.Val678=
ENST00000683093.1:n.2205C>T
ENST00000683136.1:c.2034C>T	ENSP00000507768.1:p.Val678=
ENST00000683153.1:n.2262C>T
ENST00000683253.1:n.3119C>T
ENST00000683365.1:n.2205C>T
ENST00000683377.1:n.2103C>T
ENST00000683456.1:c.2034C>T	ENSP00000508318.1:p.Val678=
ENST00000683522.1:n.2103C>T
ENST00000683562.1:c.*206C>T	ENSP00000508265.1:n.*206C>T
ENST00000683693.1:n.2103C>T
ENST00000683725.1:c.2037C>T	ENSP00000507496.1:p.Val679=
ENST00000684010.1:n.2103C>T
ENST00000684157.1:n.2103C>T
ENST00000684253.1:n.2009C>T
ENST00000684288.1:c.*206C>T	ENSP00000507143.1:n.*206C>T
ENST00000684313.1:n.1724-11330C>T
ENST00000684332.1:n.2176C>T
ENST00000684371.1:n.2209C>T
ENST00000684404.1:n.2103C>T
ENST00000684442.1:n.2103C>T
ENST00000684555.1:c.*246C>T	ENSP00000507705.1:n.*246C>T
ENST00000684571.1:c.1878C>T	ENSP00000506935.1:p.Val626=
ENST00000684593.1:c.*1742C>T	ENSP00000507005.1:n.*1742C>T
ENST00000684711.1:c.*433C>T	ENSP00000506841.1:n.*433C>T
ENST00000302539.9:c.2037C>T	ENSP00000303960.4:p.Val679=
ENST00000389817.8:c.2037C>T MANE Select	ENSP00000374467.4:p.Val679=
ENST00000532728.6:c.1618C>T
ENST00000642271.1:c.2034C>T	ENSP00000493749.1:p.Val678=
ENST00000642579.1:c.118C>T
ENST00000642611.1:n.1988C>T
ENST00000642902.1:c.1872C>T
ENST00000643260.1:c.2034C>T	ENSP00000494450.1:p.Val678=
ENST00000643562.1:c.*13C>T	ENSP00000496124.1:n.*13C>T
ENST00000644447.1:c.390C>T	ENSP00000496282.1:p.Val130=
ENST00000644472.1:c.*398C>T	ENSP00000495378.1:n.*398C>T
ENST00000644484.1:c.*246C>T	ENSP00000493558.1:n.*246C>T
ENST00000644542.1:c.*1739C>T	ENSP00000495532.1:n.*1739C>T
ENST00000644649.1:c.1207C>T
ENST00000644675.1:c.*206C>T	ENSP00000494567.1:n.*206C>T
ENST00000644757.1:c.*339C>T	ENSP00000495085.1:n.*339C>T
ENST00000644772.1:c.2103C>T	ENSP00000494321.1:p.Val701=
ENST00000645076.1:c.1289C>T
ENST00000645744.1:c.*398C>T	ENSP00000494564.1:n.*398C>T
ENST00000645760.1:c.2312C>T
ENST00000645884.1:c.2034C>T	ENSP00000495516.1:p.Val678=
ENST00000646003.1:c.*175C>T	ENSP00000495259.1:n.*175C>T
ENST00000646207.1:c.*398C>T	ENSP00000495025.1:n.*398C>T
ENST00000646276.1:c.*307C>T	ENSP00000496070.1:n.*307C>T
ENST00000646592.1:c.1260C>T
ENST00000646902.1:c.2034C>T	ENSP00000494101.1:p.Val678=
ENST00000646993.1:c.*433C>T	ENSP00000493720.1:n.*433C>T
ENST00000647013.1:c.2040C>T	ENSP00000496741.1:n.2040C>T
ENST00000647015.1:c.1785C>T	ENSP00000495389.1:p.Val595=
ENST00000647086.1:c.*1764C>T	ENSP00000493677.1:n.*1764C>T
ENST00000647158.1:c.*175C>T	ENSP00000495744.1:n.*175C>T
ENST00000302539.8:c.2037C>T	ENSP00000303960.4:p.Val679=
ENST00000389817.7:c.2037C>T	ENSP00000374467.3:p.Val679=
ENST00000527905.5:c.2007C>T	ENSP00000431653.1:p.Val669=
NM_000352.4:c.2037C>T	NP_000343.2:p.Val679=
NM_001287174.1:c.2037C>T	NP_001274103.1:p.Val679=
XM_011520331.1:c.2034C>T	XP_011518633.1:p.Val678=
XM_011520332.1:c.2037C>T	XP_011518634.1:p.Val679=
XM_011520333.1:c.534C>T	XP_011518635.1:p.Val178=
XM_011520334.1:c.2037C>T	XP_011518636.1:p.Val679=
XR_930890.1:n.2100C>T
XR_930891.1:n.2100C>T
XR_930892.1:n.2100C>T
XR_930893.1:n.2100C>T
NM_001351295.1:c.2103C>T	NP_001338224.1:p.Val701=
NM_001351296.1:c.2034C>T	NP_001338225.1:p.Val678=
NM_001351297.1:c.2034C>T	NP_001338226.1:p.Val678=
NR_147094.1:n.2103C>T
XM_017018197.2:c.2103C>T	XP_016873686.1:p.Val701=
XM_017018199.1:c.2100C>T	XP_016873688.1:p.Val700=
XM_017018201.2:c.2103C>T	XP_016873690.1:p.Val701=
XM_017018202.1:c.600C>T	XP_016873691.1:p.Val200=
XM_017018204.1:c.-7C>T	XP_016873693.1:n.-7C>T
XM_024448668.1:c.402C>T	XP_024304436.1:p.Val134=
XR_001747945.2:n.2175C>T
XR_001747946.2:n.2109C>T
XR_002957189.1:n.2175C>T
NM_000352.6:c.2037C>T MANE Select	NP_000343.2:p.Val679=
NM_001287174.2:c.2037C>T	NP_001274103.1:p.Val679=
NM_001351295.2:c.2103C>T	NP_001338224.1:p.Val701=
NM_001351296.2:c.2034C>T	NP_001338225.1:p.Val678=
NM_001351297.2:c.2034C>T	NP_001338226.1:p.Val678=
NR_147094.2:n.2103C>T
NM_001287174.3:c.2037C>T	NP_001274103.1:p.Val679=