Canonical Allele Identifier: CA379790180

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396920T>A , CM000673.2:g.17396920T>A	GRCh38
NC_000011.9:g.17418467T>A , CM000673.1:g.17418467T>A	GRCh37
NC_000011.8:g.17375043T>A	NCBI36
NG_008867.1:g.84983A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4115A>T MANE Select	NP_000343.2:p.Gln1372Leu
ENST00000389817.8:c.4115A>T MANE Select	ENSP00000374467.4:p.Gln1372Leu
NM_000352.4:c.4115A>T	NP_000343.2:p.Gln1372Leu
NM_001287174.1:c.4118A>T	NP_001274103.1:p.Gln1373Leu
NM_001287174.2:c.4118A>T	NP_001274103.1:p.Gln1373Leu
NM_001287174.3:c.4118A>T	NP_001274103.1:p.Gln1373Leu
NM_001351295.1:c.4181A>T	NP_001338224.1:p.Gln1394Leu
NM_001351295.2:c.4181A>T	NP_001338224.1:p.Gln1394Leu
NM_001351296.1:c.4115A>T	NP_001338225.1:p.Gln1372Leu
NM_001351296.2:c.4115A>T	NP_001338225.1:p.Gln1372Leu
NM_001351297.1:c.4112A>T	NP_001338226.1:p.Gln1371Leu
NM_001351297.2:c.4112A>T	NP_001338226.1:p.Gln1371Leu
NR_147094.1:n.4410A>T
NR_147094.2:n.4410A>T
ENST00000302539.8:c.4118A>T	ENSP00000303960.4:p.Gln1373Leu
ENST00000302539.9:c.4118A>T	ENSP00000303960.4:p.Gln1373Leu
ENST00000389817.7:c.4115A>T	ENSP00000374467.3:p.Gln1372Leu
ENST00000524561.2:n.3716A>T
ENST00000527905.5:c.*1137A>T	ENSP00000431653.1:n.*1137A>T
ENST00000528374.1:c.597A>T
ENST00000528374.2:c.706A>T
ENST00000529967.6:n.2454A>T
ENST00000532220.1:n.589A>T
ENST00000532220.2:n.2363A>T
ENST00000642271.1:c.4112A>T	ENSP00000493749.1:p.Gln1371Leu
ENST00000642579.1:c.2169A>T
ENST00000642611.1:n.4215A>T
ENST00000642611.2:n.4330A>T
ENST00000642902.1:c.3897A>T
ENST00000643260.1:c.4115A>T	ENSP00000494450.1:p.Gln1372Leu
ENST00000643562.1:c.*2237A>T	ENSP00000496124.1:n.*2237A>T
ENST00000643925.1:c.2755A>T
ENST00000644057.1:n.192A>T
ENST00000644057.2:n.558A>T
ENST00000644484.1:c.*2516A>T	ENSP00000493558.1:n.*2516A>T
ENST00000644675.1:c.*2287A>T	ENSP00000494567.1:n.*2287A>T
ENST00000644757.1:c.*2546A>T	ENSP00000495085.1:n.*2546A>T
ENST00000644772.1:c.4181A>T	ENSP00000494321.1:p.Gln1394Leu
ENST00000645004.1:n.1770A>T
ENST00000645004.2:n.1614A>T
ENST00000645076.1:c.3314A>T
ENST00000645417.1:c.1303A>T
ENST00000645744.1:c.*2895A>T	ENSP00000494564.1:n.*2895A>T
ENST00000645760.1:c.4536A>T
ENST00000645884.1:c.*1398A>T	ENSP00000495516.1:n.*1398A>T
ENST00000646003.1:c.*2217A>T	ENSP00000495259.1:n.*2217A>T
ENST00000646207.1:c.*2952A>T	ENSP00000495025.1:n.*2952A>T
ENST00000646276.1:c.*2534A>T	ENSP00000496070.1:n.*2534A>T
ENST00000646592.1:c.3421A>T
ENST00000646902.1:c.4082A>T	ENSP00000494101.1:p.Gln1361Leu
ENST00000646993.1:c.*2657A>T	ENSP00000493720.1:n.*2657A>T
ENST00000647013.1:c.4121A>T	ENSP00000496741.1:n.4121A>T
ENST00000647015.1:c.3866A>T	ENSP00000495389.1:p.Gln1289Leu
ENST00000647086.1:c.*3701A>T	ENSP00000493677.1:n.*3701A>T
ENST00000647158.1:c.*2402A>T	ENSP00000495744.1:n.*2402A>T
ENST00000682051.1:n.4277A>T
ENST00000682110.1:n.4330A>T
ENST00000682140.1:c.3985+273A>T	ENSP00000507829.1:n.3985+273A>T
ENST00000682185.1:n.5420A>T
ENST00000682204.1:c.*2253A>T	ENSP00000507094.1:n.*2253A>T
ENST00000682215.1:n.4697A>T
ENST00000682288.1:c.*2546A>T	ENSP00000507506.1:n.*2546A>T
ENST00000682442.1:n.4550A>T
ENST00000682528.1:n.4407A>T
ENST00000682673.1:n.4274A>T
ENST00000682805.1:n.4697A>T
ENST00000682965.1:c.*537A>T	ENSP00000508229.1:n.*537A>T
ENST00000683093.1:n.4429A>T
ENST00000683136.1:c.3998A>T	ENSP00000507768.1:p.Gln1333Leu
ENST00000683153.1:n.4372A>T
ENST00000683365.1:n.4432A>T
ENST00000683377.1:n.4330A>T
ENST00000683456.1:c.*1252A>T	ENSP00000508318.1:n.*1252A>T
ENST00000683522.1:n.4330A>T
ENST00000683562.1:c.*2284A>T	ENSP00000508265.1:n.*2284A>T
ENST00000683693.1:n.4777A>T
ENST00000683725.1:c.4115A>T	ENSP00000507496.1:p.Gln1372Leu
ENST00000684010.1:n.4325A>T
ENST00000684157.1:n.4330A>T
ENST00000684253.1:n.4233A>T
ENST00000684288.1:c.*2287A>T	ENSP00000507143.1:n.*2287A>T
ENST00000684313.1:n.3762A>T
ENST00000684332.1:n.4403A>T
ENST00000684371.1:n.4436A>T
ENST00000684404.1:n.4373A>T
ENST00000684442.1:n.4554A>T
ENST00000684555.1:c.*2327A>T	ENSP00000507705.1:n.*2327A>T
ENST00000684571.1:c.3956A>T	ENSP00000506935.1:p.Gln1319Leu
ENST00000684593.1:c.*3820A>T	ENSP00000507005.1:n.*3820A>T
ENST00000684711.1:c.*2511A>T	ENSP00000506841.1:n.*2511A>T
XM_011520331.1:c.4115A>T	XP_011518633.1:p.Gln1372Leu
XM_011520332.1:c.4118A>T	XP_011518634.1:p.Gln1373Leu
XM_011520333.1:c.2615A>T	XP_011518635.1:p.Gln872Leu
XM_017018197.2:c.4184A>T	XP_016873686.1:p.Gln1395Leu
XM_017018199.1:c.4181A>T	XP_016873688.1:p.Gln1394Leu
XM_017018201.2:c.4184A>T	XP_016873690.1:p.Gln1395Leu
XM_017018202.1:c.2681A>T	XP_016873691.1:p.Gln894Leu
XM_017018204.1:c.2072A>T	XP_016873693.1:p.Gln691Leu
XM_024448668.1:c.2483A>T	XP_024304436.1:p.Gln828Leu
XR_001747945.2:n.4256A>T
XR_001747946.2:n.4187A>T
XR_002957189.1:n.4852A>T
XR_930890.1:n.4181A>T