Canonical Allele Identifier: CA1955123932

Gene: ABCC8

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3635A=
ENST00000528374.2:c.625A=
ENST00000529967.6:n.2373A=
ENST00000532220.2:n.2282A=
ENST00000642611.2:n.4249A=
ENST00000644057.2:n.477A=
ENST00000645004.2:n.1533A=
ENST00000682051.1:n.4196A=
ENST00000682110.1:n.4249A=
ENST00000682140.1:c.3985+192A=	ENSP00000507829.1:n.3985+192A=
ENST00000682185.1:n.5339A=
ENST00000682204.1:c.*2172A=	ENSP00000507094.1:n.*2172A=
ENST00000682215.1:n.4616A=
ENST00000682288.1:c.*2465A=	ENSP00000507506.1:n.*2465A=
ENST00000682442.1:n.4469A=
ENST00000682528.1:n.4326A=
ENST00000682673.1:n.4193A=
ENST00000682805.1:n.4616A=
ENST00000682965.1:c.*456A=	ENSP00000508229.1:n.*456A=
ENST00000683093.1:n.4348A=
ENST00000683136.1:c.3917A=	ENSP00000507768.1:p.Gln1306=
ENST00000683153.1:n.4291A=
ENST00000683365.1:n.4351A=
ENST00000683377.1:n.4249A=
ENST00000683456.1:c.*1171A=	ENSP00000508318.1:n.*1171A=
ENST00000683522.1:n.4249A=
ENST00000683562.1:c.*2203A=	ENSP00000508265.1:n.*2203A=
ENST00000683693.1:n.4696A=
ENST00000683725.1:c.4034A=	ENSP00000507496.1:p.Gln1345=
ENST00000684010.1:n.4244A=
ENST00000684157.1:n.4249A=
ENST00000684253.1:n.4152A=
ENST00000684288.1:c.*2206A=	ENSP00000507143.1:n.*2206A=
ENST00000684313.1:n.3681A=
ENST00000684332.1:n.4322A=
ENST00000684371.1:n.4355A=
ENST00000684404.1:n.4292A=
ENST00000684442.1:n.4473A=
ENST00000684555.1:c.*2246A=	ENSP00000507705.1:n.*2246A=
ENST00000684571.1:c.3875A=	ENSP00000506935.1:p.Gln1292=
ENST00000684593.1:c.*3739A=	ENSP00000507005.1:n.*3739A=
ENST00000684711.1:c.*2430A=	ENSP00000506841.1:n.*2430A=
ENST00000302539.9:c.4037A=	ENSP00000303960.4:p.Gln1346=
ENST00000389817.8:c.4034A= MANE Select	ENSP00000374467.4:p.Gln1345=
ENST00000642271.1:c.4031A=	ENSP00000493749.1:p.Gln1344=
ENST00000642579.1:c.2088A=
ENST00000642611.1:n.4134A=
ENST00000642902.1:c.3816A=
ENST00000643260.1:c.4034A=	ENSP00000494450.1:p.Gln1345=
ENST00000643562.1:c.*2156A=	ENSP00000496124.1:n.*2156A=
ENST00000643925.1:c.2674A=
ENST00000644057.1:n.111A=
ENST00000644484.1:c.*2435A=	ENSP00000493558.1:n.*2435A=
ENST00000644675.1:c.*2206A=	ENSP00000494567.1:n.*2206A=
ENST00000644757.1:c.*2465A=	ENSP00000495085.1:n.*2465A=
ENST00000644772.1:c.4100A=	ENSP00000494321.1:p.Gln1367=
ENST00000645004.1:n.1689A=
ENST00000645076.1:c.3233A=
ENST00000645417.1:c.1222A=
ENST00000645744.1:c.*2814A=	ENSP00000494564.1:n.*2814A=
ENST00000645760.1:c.4455A=
ENST00000645884.1:c.*1317A=	ENSP00000495516.1:n.*1317A=
ENST00000646003.1:c.*2136A=	ENSP00000495259.1:n.*2136A=
ENST00000646207.1:c.*2871A=	ENSP00000495025.1:n.*2871A=
ENST00000646276.1:c.*2453A=	ENSP00000496070.1:n.*2453A=
ENST00000646592.1:c.3340A=
ENST00000646902.1:c.4001A=	ENSP00000494101.1:p.Gln1334=
ENST00000646993.1:c.*2576A=	ENSP00000493720.1:n.*2576A=
ENST00000647013.1:c.4040A=	ENSP00000496741.1:n.4040A=
ENST00000647015.1:c.3785A=	ENSP00000495389.1:p.Gln1262=
ENST00000647086.1:c.*3620A=	ENSP00000493677.1:n.*3620A=
ENST00000647158.1:c.*2321A=	ENSP00000495744.1:n.*2321A=
ENST00000302539.8:c.4037A=	ENSP00000303960.4:p.Gln1346=
ENST00000389817.7:c.4034A=	ENSP00000374467.3:p.Gln1345=
ENST00000527905.5:c.*1056A=	ENSP00000431653.1:n.*1056A=
ENST00000528374.1:c.516A=
ENST00000531137.1:n.599A=
ENST00000531891.1:c.372A=
ENST00000532220.1:n.508A=
NM_000352.4:c.4034A=	NP_000343.2:p.Gln1345=
NM_001287174.1:c.4037A=	NP_001274103.1:p.Gln1346=
XM_011520331.1:c.4034A=	XP_011518633.1:p.Gln1345=
XM_011520332.1:c.4037A=	XP_011518634.1:p.Gln1346=
XM_011520333.1:c.2534A=	XP_011518635.1:p.Gln845=
XR_930890.1:n.4100A=
NM_001351295.1:c.4100A=	NP_001338224.1:p.Gln1367=
NM_001351296.1:c.4034A=	NP_001338225.1:p.Gln1345=
NM_001351297.1:c.4031A=	NP_001338226.1:p.Gln1344=
NR_147094.1:n.4329A=
XM_017018197.2:c.4103A=	XP_016873686.1:p.Gln1368=
XM_017018199.1:c.4100A=	XP_016873688.1:p.Gln1367=
XM_017018201.2:c.4103A=	XP_016873690.1:p.Gln1368=
XM_017018202.1:c.2600A=	XP_016873691.1:p.Gln867=
XM_017018204.1:c.1991A=	XP_016873693.1:p.Gln664=
XM_024448668.1:c.2402A=	XP_024304436.1:p.Gln801=
XR_001747945.2:n.4175A=
XR_001747946.2:n.4106A=
XR_002957189.1:n.4771A=
NM_000352.6:c.4034A= MANE Select	NP_000343.2:p.Gln1345=
NM_001287174.2:c.4037A=	NP_001274103.1:p.Gln1346=
NM_001351295.2:c.4100A=	NP_001338224.1:p.Gln1367=
NM_001351296.2:c.4034A=	NP_001338225.1:p.Gln1345=
NM_001351297.2:c.4031A=	NP_001338226.1:p.Gln1344=
NR_147094.2:n.4329A=
NM_001287174.3:c.4037A=	NP_001274103.1:p.Gln1346=