Canonical Allele Identifier: CA379790875

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418549G>A (hg19) ; chr11:g.17397002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397002G>A , CM000673.2:g.17397002G>A	GRCh38
NC_000011.9:g.17418549G>A , CM000673.1:g.17418549G>A	GRCh37
NC_000011.8:g.17375125G>A	NCBI36
NG_008867.1:g.84901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3634C>T
ENST00000528374.2:c.624C>T
ENST00000529967.6:n.2372C>T
ENST00000532220.2:n.2281C>T
ENST00000642611.2:n.4248C>T
ENST00000644057.2:n.476C>T
ENST00000645004.2:n.1532C>T
ENST00000682051.1:n.4195C>T
ENST00000682110.1:n.4248C>T
ENST00000682140.1:c.3985+191C>T	ENSP00000507829.1:n.3985+191C>T
ENST00000682185.1:n.5338C>T
ENST00000682204.1:c.*2171C>T	ENSP00000507094.1:n.*2171C>T
ENST00000682215.1:n.4615C>T
ENST00000682288.1:c.*2464C>T	ENSP00000507506.1:n.*2464C>T
ENST00000682442.1:n.4468C>T
ENST00000682528.1:n.4325C>T
ENST00000682673.1:n.4192C>T
ENST00000682805.1:n.4615C>T
ENST00000682965.1:c.*455C>T	ENSP00000508229.1:n.*455C>T
ENST00000683093.1:n.4347C>T
ENST00000683136.1:c.3916C>T	ENSP00000507768.1:p.Gln1306Ter
ENST00000683153.1:n.4290C>T
ENST00000683365.1:n.4350C>T
ENST00000683377.1:n.4248C>T
ENST00000683456.1:c.*1170C>T	ENSP00000508318.1:n.*1170C>T
ENST00000683522.1:n.4248C>T
ENST00000683562.1:c.*2202C>T	ENSP00000508265.1:n.*2202C>T
ENST00000683693.1:n.4695C>T
ENST00000683725.1:c.4033C>T	ENSP00000507496.1:p.Gln1345Ter
ENST00000684010.1:n.4243C>T
ENST00000684157.1:n.4248C>T
ENST00000684253.1:n.4151C>T
ENST00000684288.1:c.*2205C>T	ENSP00000507143.1:n.*2205C>T
ENST00000684313.1:n.3680C>T
ENST00000684332.1:n.4321C>T
ENST00000684371.1:n.4354C>T
ENST00000684404.1:n.4291C>T
ENST00000684442.1:n.4472C>T
ENST00000684555.1:c.*2245C>T	ENSP00000507705.1:n.*2245C>T
ENST00000684571.1:c.3874C>T	ENSP00000506935.1:p.Gln1292Ter
ENST00000684593.1:c.*3738C>T	ENSP00000507005.1:n.*3738C>T
ENST00000684711.1:c.*2429C>T	ENSP00000506841.1:n.*2429C>T
ENST00000302539.9:c.4036C>T	ENSP00000303960.4:p.Gln1346Ter
ENST00000389817.8:c.4033C>T MANE Select	ENSP00000374467.4:p.Gln1345Ter
ENST00000642271.1:c.4030C>T	ENSP00000493749.1:p.Gln1344Ter
ENST00000642579.1:c.2087C>T
ENST00000642611.1:n.4133C>T
ENST00000642902.1:c.3815C>T
ENST00000643260.1:c.4033C>T	ENSP00000494450.1:p.Gln1345Ter
ENST00000643562.1:c.*2155C>T	ENSP00000496124.1:n.*2155C>T
ENST00000643925.1:c.2673C>T
ENST00000644057.1:n.110C>T
ENST00000644484.1:c.*2434C>T	ENSP00000493558.1:n.*2434C>T
ENST00000644675.1:c.*2205C>T	ENSP00000494567.1:n.*2205C>T
ENST00000644757.1:c.*2464C>T	ENSP00000495085.1:n.*2464C>T
ENST00000644772.1:c.4099C>T	ENSP00000494321.1:p.Gln1367Ter
ENST00000645004.1:n.1688C>T
ENST00000645076.1:c.3232C>T
ENST00000645417.1:c.1221C>T
ENST00000645744.1:c.*2813C>T	ENSP00000494564.1:n.*2813C>T
ENST00000645760.1:c.4454C>T
ENST00000645884.1:c.*1316C>T	ENSP00000495516.1:n.*1316C>T
ENST00000646003.1:c.*2135C>T	ENSP00000495259.1:n.*2135C>T
ENST00000646207.1:c.*2870C>T	ENSP00000495025.1:n.*2870C>T
ENST00000646276.1:c.*2452C>T	ENSP00000496070.1:n.*2452C>T
ENST00000646592.1:c.3339C>T
ENST00000646902.1:c.4000C>T	ENSP00000494101.1:p.Gln1334Ter
ENST00000646993.1:c.*2575C>T	ENSP00000493720.1:n.*2575C>T
ENST00000647013.1:c.4039C>T	ENSP00000496741.1:n.4039C>T
ENST00000647015.1:c.3784C>T	ENSP00000495389.1:p.Gln1262Ter
ENST00000647086.1:c.*3619C>T	ENSP00000493677.1:n.*3619C>T
ENST00000647158.1:c.*2320C>T	ENSP00000495744.1:n.*2320C>T
ENST00000302539.8:c.4036C>T	ENSP00000303960.4:p.Gln1346Ter
ENST00000389817.7:c.4033C>T	ENSP00000374467.3:p.Gln1345Ter
ENST00000527905.5:c.*1055C>T	ENSP00000431653.1:n.*1055C>T
ENST00000528374.1:c.515C>T
ENST00000531137.1:n.598C>T
ENST00000531891.1:c.371C>T
ENST00000532220.1:n.507C>T
NM_000352.4:c.4033C>T	NP_000343.2:p.Gln1345Ter
NM_001287174.1:c.4036C>T	NP_001274103.1:p.Gln1346Ter
XM_011520331.1:c.4033C>T	XP_011518633.1:p.Gln1345Ter
XM_011520332.1:c.4036C>T	XP_011518634.1:p.Gln1346Ter
XM_011520333.1:c.2533C>T	XP_011518635.1:p.Gln845Ter
XR_930890.1:n.4099C>T
NM_001351295.1:c.4099C>T	NP_001338224.1:p.Gln1367Ter
NM_001351296.1:c.4033C>T	NP_001338225.1:p.Gln1345Ter
NM_001351297.1:c.4030C>T	NP_001338226.1:p.Gln1344Ter
NR_147094.1:n.4328C>T
XM_017018197.2:c.4102C>T	XP_016873686.1:p.Gln1368Ter
XM_017018199.1:c.4099C>T	XP_016873688.1:p.Gln1367Ter
XM_017018201.2:c.4102C>T	XP_016873690.1:p.Gln1368Ter
XM_017018202.1:c.2599C>T	XP_016873691.1:p.Gln867Ter
XM_017018204.1:c.1990C>T	XP_016873693.1:p.Gln664Ter
XM_024448668.1:c.2401C>T	XP_024304436.1:p.Gln801Ter
XR_001747945.2:n.4174C>T
XR_001747946.2:n.4105C>T
XR_002957189.1:n.4770C>T
NM_000352.6:c.4033C>T MANE Select	NP_000343.2:p.Gln1345Ter
NM_001287174.2:c.4036C>T	NP_001274103.1:p.Gln1346Ter
NM_001351295.2:c.4099C>T	NP_001338224.1:p.Gln1367Ter
NM_001351296.2:c.4033C>T	NP_001338225.1:p.Gln1345Ter
NM_001351297.2:c.4030C>T	NP_001338226.1:p.Gln1344Ter
NR_147094.2:n.4328C>T
NM_001287174.3:c.4036C>T	NP_001274103.1:p.Gln1346Ter