Canonical Allele Identifier: CA379790867

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418548T>A (hg19) ; chr11:g.17397001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397001T>A , CM000673.2:g.17397001T>A	GRCh38
NC_000011.9:g.17418548T>A , CM000673.1:g.17418548T>A	GRCh37
NC_000011.8:g.17375124T>A	NCBI36
NG_008867.1:g.84902A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3635A>T
ENST00000528374.2:c.625A>T
ENST00000529967.6:n.2373A>T
ENST00000532220.2:n.2282A>T
ENST00000642611.2:n.4249A>T
ENST00000644057.2:n.477A>T
ENST00000645004.2:n.1533A>T
ENST00000682051.1:n.4196A>T
ENST00000682110.1:n.4249A>T
ENST00000682140.1:c.3985+192A>T	ENSP00000507829.1:n.3985+192A>T
ENST00000682185.1:n.5339A>T
ENST00000682204.1:c.*2172A>T	ENSP00000507094.1:n.*2172A>T
ENST00000682215.1:n.4616A>T
ENST00000682288.1:c.*2465A>T	ENSP00000507506.1:n.*2465A>T
ENST00000682442.1:n.4469A>T
ENST00000682528.1:n.4326A>T
ENST00000682673.1:n.4193A>T
ENST00000682805.1:n.4616A>T
ENST00000682965.1:c.*456A>T	ENSP00000508229.1:n.*456A>T
ENST00000683093.1:n.4348A>T
ENST00000683136.1:c.3917A>T	ENSP00000507768.1:p.Gln1306Leu
ENST00000683153.1:n.4291A>T
ENST00000683365.1:n.4351A>T
ENST00000683377.1:n.4249A>T
ENST00000683456.1:c.*1171A>T	ENSP00000508318.1:n.*1171A>T
ENST00000683522.1:n.4249A>T
ENST00000683562.1:c.*2203A>T	ENSP00000508265.1:n.*2203A>T
ENST00000683693.1:n.4696A>T
ENST00000683725.1:c.4034A>T	ENSP00000507496.1:p.Gln1345Leu
ENST00000684010.1:n.4244A>T
ENST00000684157.1:n.4249A>T
ENST00000684253.1:n.4152A>T
ENST00000684288.1:c.*2206A>T	ENSP00000507143.1:n.*2206A>T
ENST00000684313.1:n.3681A>T
ENST00000684332.1:n.4322A>T
ENST00000684371.1:n.4355A>T
ENST00000684404.1:n.4292A>T
ENST00000684442.1:n.4473A>T
ENST00000684555.1:c.*2246A>T	ENSP00000507705.1:n.*2246A>T
ENST00000684571.1:c.3875A>T	ENSP00000506935.1:p.Gln1292Leu
ENST00000684593.1:c.*3739A>T	ENSP00000507005.1:n.*3739A>T
ENST00000684711.1:c.*2430A>T	ENSP00000506841.1:n.*2430A>T
ENST00000302539.9:c.4037A>T	ENSP00000303960.4:p.Gln1346Leu
ENST00000389817.8:c.4034A>T MANE Select	ENSP00000374467.4:p.Gln1345Leu
ENST00000642271.1:c.4031A>T	ENSP00000493749.1:p.Gln1344Leu
ENST00000642579.1:c.2088A>T
ENST00000642611.1:n.4134A>T
ENST00000642902.1:c.3816A>T
ENST00000643260.1:c.4034A>T	ENSP00000494450.1:p.Gln1345Leu
ENST00000643562.1:c.*2156A>T	ENSP00000496124.1:n.*2156A>T
ENST00000643925.1:c.2674A>T
ENST00000644057.1:n.111A>T
ENST00000644484.1:c.*2435A>T	ENSP00000493558.1:n.*2435A>T
ENST00000644675.1:c.*2206A>T	ENSP00000494567.1:n.*2206A>T
ENST00000644757.1:c.*2465A>T	ENSP00000495085.1:n.*2465A>T
ENST00000644772.1:c.4100A>T	ENSP00000494321.1:p.Gln1367Leu
ENST00000645004.1:n.1689A>T
ENST00000645076.1:c.3233A>T
ENST00000645417.1:c.1222A>T
ENST00000645744.1:c.*2814A>T	ENSP00000494564.1:n.*2814A>T
ENST00000645760.1:c.4455A>T
ENST00000645884.1:c.*1317A>T	ENSP00000495516.1:n.*1317A>T
ENST00000646003.1:c.*2136A>T	ENSP00000495259.1:n.*2136A>T
ENST00000646207.1:c.*2871A>T	ENSP00000495025.1:n.*2871A>T
ENST00000646276.1:c.*2453A>T	ENSP00000496070.1:n.*2453A>T
ENST00000646592.1:c.3340A>T
ENST00000646902.1:c.4001A>T	ENSP00000494101.1:p.Gln1334Leu
ENST00000646993.1:c.*2576A>T	ENSP00000493720.1:n.*2576A>T
ENST00000647013.1:c.4040A>T	ENSP00000496741.1:n.4040A>T
ENST00000647015.1:c.3785A>T	ENSP00000495389.1:p.Gln1262Leu
ENST00000647086.1:c.*3620A>T	ENSP00000493677.1:n.*3620A>T
ENST00000647158.1:c.*2321A>T	ENSP00000495744.1:n.*2321A>T
ENST00000302539.8:c.4037A>T	ENSP00000303960.4:p.Gln1346Leu
ENST00000389817.7:c.4034A>T	ENSP00000374467.3:p.Gln1345Leu
ENST00000527905.5:c.*1056A>T	ENSP00000431653.1:n.*1056A>T
ENST00000528374.1:c.516A>T
ENST00000531137.1:n.599A>T
ENST00000531891.1:c.372A>T
ENST00000532220.1:n.508A>T
NM_000352.4:c.4034A>T	NP_000343.2:p.Gln1345Leu
NM_001287174.1:c.4037A>T	NP_001274103.1:p.Gln1346Leu
XM_011520331.1:c.4034A>T	XP_011518633.1:p.Gln1345Leu
XM_011520332.1:c.4037A>T	XP_011518634.1:p.Gln1346Leu
XM_011520333.1:c.2534A>T	XP_011518635.1:p.Gln845Leu
XR_930890.1:n.4100A>T
NM_001351295.1:c.4100A>T	NP_001338224.1:p.Gln1367Leu
NM_001351296.1:c.4034A>T	NP_001338225.1:p.Gln1345Leu
NM_001351297.1:c.4031A>T	NP_001338226.1:p.Gln1344Leu
NR_147094.1:n.4329A>T
XM_017018197.2:c.4103A>T	XP_016873686.1:p.Gln1368Leu
XM_017018199.1:c.4100A>T	XP_016873688.1:p.Gln1367Leu
XM_017018201.2:c.4103A>T	XP_016873690.1:p.Gln1368Leu
XM_017018202.1:c.2600A>T	XP_016873691.1:p.Gln867Leu
XM_017018204.1:c.1991A>T	XP_016873693.1:p.Gln664Leu
XM_024448668.1:c.2402A>T	XP_024304436.1:p.Gln801Leu
XR_001747945.2:n.4175A>T
XR_001747946.2:n.4106A>T
XR_002957189.1:n.4771A>T
NM_000352.6:c.4034A>T MANE Select	NP_000343.2:p.Gln1345Leu
NM_001287174.2:c.4037A>T	NP_001274103.1:p.Gln1346Leu
NM_001351295.2:c.4100A>T	NP_001338224.1:p.Gln1367Leu
NM_001351296.2:c.4034A>T	NP_001338225.1:p.Gln1345Leu
NM_001351297.2:c.4031A>T	NP_001338226.1:p.Gln1344Leu
NR_147094.2:n.4329A>T
NM_001287174.3:c.4037A>T	NP_001274103.1:p.Gln1346Leu