Canonical Allele Identifier: CA379790802

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396995-T-A
• MyVariant Identifiers: chr11:g.17418542T>A (hg19) ; chr11:g.17396995T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396995T>A , CM000673.2:g.17396995T>A	GRCh38
NC_000011.9:g.17418542T>A , CM000673.1:g.17418542T>A	GRCh37
NC_000011.8:g.17375118T>A	NCBI36
NG_008867.1:g.84908A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3641A>T
ENST00000528374.2:c.631A>T
ENST00000529967.6:n.2379A>T
ENST00000532220.2:n.2288A>T
ENST00000642611.2:n.4255A>T
ENST00000644057.2:n.483A>T
ENST00000645004.2:n.1539A>T
ENST00000682051.1:n.4202A>T
ENST00000682110.1:n.4255A>T
ENST00000682140.1:c.3985+198A>T	ENSP00000507829.1:n.3985+198A>T
ENST00000682185.1:n.5345A>T
ENST00000682204.1:c.*2178A>T	ENSP00000507094.1:n.*2178A>T
ENST00000682215.1:n.4622A>T
ENST00000682288.1:c.*2471A>T	ENSP00000507506.1:n.*2471A>T
ENST00000682442.1:n.4475A>T
ENST00000682528.1:n.4332A>T
ENST00000682673.1:n.4199A>T
ENST00000682805.1:n.4622A>T
ENST00000682965.1:c.*462A>T	ENSP00000508229.1:n.*462A>T
ENST00000683093.1:n.4354A>T
ENST00000683136.1:c.3923A>T	ENSP00000507768.1:p.Gln1308Leu
ENST00000683153.1:n.4297A>T
ENST00000683365.1:n.4357A>T
ENST00000683377.1:n.4255A>T
ENST00000683456.1:c.*1177A>T	ENSP00000508318.1:n.*1177A>T
ENST00000683522.1:n.4255A>T
ENST00000683562.1:c.*2209A>T	ENSP00000508265.1:n.*2209A>T
ENST00000683693.1:n.4702A>T
ENST00000683725.1:c.4040A>T	ENSP00000507496.1:p.Gln1347Leu
ENST00000684010.1:n.4250A>T
ENST00000684157.1:n.4255A>T
ENST00000684253.1:n.4158A>T
ENST00000684288.1:c.*2212A>T	ENSP00000507143.1:n.*2212A>T
ENST00000684313.1:n.3687A>T
ENST00000684332.1:n.4328A>T
ENST00000684371.1:n.4361A>T
ENST00000684404.1:n.4298A>T
ENST00000684442.1:n.4479A>T
ENST00000684555.1:c.*2252A>T	ENSP00000507705.1:n.*2252A>T
ENST00000684571.1:c.3881A>T	ENSP00000506935.1:p.Gln1294Leu
ENST00000684593.1:c.*3745A>T	ENSP00000507005.1:n.*3745A>T
ENST00000684711.1:c.*2436A>T	ENSP00000506841.1:n.*2436A>T
ENST00000302539.9:c.4043A>T	ENSP00000303960.4:p.Gln1348Leu
ENST00000389817.8:c.4040A>T MANE Select	ENSP00000374467.4:p.Gln1347Leu
ENST00000642271.1:c.4037A>T	ENSP00000493749.1:p.Gln1346Leu
ENST00000642579.1:c.2094A>T
ENST00000642611.1:n.4140A>T
ENST00000642902.1:c.3822A>T
ENST00000643260.1:c.4040A>T	ENSP00000494450.1:p.Gln1347Leu
ENST00000643562.1:c.*2162A>T	ENSP00000496124.1:n.*2162A>T
ENST00000643925.1:c.2680A>T
ENST00000644057.1:n.117A>T
ENST00000644484.1:c.*2441A>T	ENSP00000493558.1:n.*2441A>T
ENST00000644675.1:c.*2212A>T	ENSP00000494567.1:n.*2212A>T
ENST00000644757.1:c.*2471A>T	ENSP00000495085.1:n.*2471A>T
ENST00000644772.1:c.4106A>T	ENSP00000494321.1:p.Gln1369Leu
ENST00000645004.1:n.1695A>T
ENST00000645076.1:c.3239A>T
ENST00000645417.1:c.1228A>T
ENST00000645744.1:c.*2820A>T	ENSP00000494564.1:n.*2820A>T
ENST00000645760.1:c.4461A>T
ENST00000645884.1:c.*1323A>T	ENSP00000495516.1:n.*1323A>T
ENST00000646003.1:c.*2142A>T	ENSP00000495259.1:n.*2142A>T
ENST00000646207.1:c.*2877A>T	ENSP00000495025.1:n.*2877A>T
ENST00000646276.1:c.*2459A>T	ENSP00000496070.1:n.*2459A>T
ENST00000646592.1:c.3346A>T
ENST00000646902.1:c.4007A>T	ENSP00000494101.1:p.Gln1336Leu
ENST00000646993.1:c.*2582A>T	ENSP00000493720.1:n.*2582A>T
ENST00000647013.1:c.4046A>T	ENSP00000496741.1:n.4046A>T
ENST00000647015.1:c.3791A>T	ENSP00000495389.1:p.Gln1264Leu
ENST00000647086.1:c.*3626A>T	ENSP00000493677.1:n.*3626A>T
ENST00000647158.1:c.*2327A>T	ENSP00000495744.1:n.*2327A>T
ENST00000302539.8:c.4043A>T	ENSP00000303960.4:p.Gln1348Leu
ENST00000389817.7:c.4040A>T	ENSP00000374467.3:p.Gln1347Leu
ENST00000527905.5:c.*1062A>T	ENSP00000431653.1:n.*1062A>T
ENST00000528374.1:c.522A>T
ENST00000531137.1:n.605A>T
ENST00000531891.1:c.378A>T
ENST00000532220.1:n.514A>T
NM_000352.4:c.4040A>T	NP_000343.2:p.Gln1347Leu
NM_001287174.1:c.4043A>T	NP_001274103.1:p.Gln1348Leu
XM_011520331.1:c.4040A>T	XP_011518633.1:p.Gln1347Leu
XM_011520332.1:c.4043A>T	XP_011518634.1:p.Gln1348Leu
XM_011520333.1:c.2540A>T	XP_011518635.1:p.Gln847Leu
XR_930890.1:n.4106A>T
NM_001351295.1:c.4106A>T	NP_001338224.1:p.Gln1369Leu
NM_001351296.1:c.4040A>T	NP_001338225.1:p.Gln1347Leu
NM_001351297.1:c.4037A>T	NP_001338226.1:p.Gln1346Leu
NR_147094.1:n.4335A>T
XM_017018197.2:c.4109A>T	XP_016873686.1:p.Gln1370Leu
XM_017018199.1:c.4106A>T	XP_016873688.1:p.Gln1369Leu
XM_017018201.2:c.4109A>T	XP_016873690.1:p.Gln1370Leu
XM_017018202.1:c.2606A>T	XP_016873691.1:p.Gln869Leu
XM_017018204.1:c.1997A>T	XP_016873693.1:p.Gln666Leu
XM_024448668.1:c.2408A>T	XP_024304436.1:p.Gln803Leu
XR_001747945.2:n.4181A>T
XR_001747946.2:n.4112A>T
XR_002957189.1:n.4777A>T
NM_000352.6:c.4040A>T MANE Select	NP_000343.2:p.Gln1347Leu
NM_001287174.2:c.4043A>T	NP_001274103.1:p.Gln1348Leu
NM_001351295.2:c.4106A>T	NP_001338224.1:p.Gln1369Leu
NM_001351296.2:c.4040A>T	NP_001338225.1:p.Gln1347Leu
NM_001351297.2:c.4037A>T	NP_001338226.1:p.Gln1346Leu
NR_147094.2:n.4335A>T
NM_001287174.3:c.4043A>T	NP_001274103.1:p.Gln1348Leu