Canonical Allele Identifier: CA379803468

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406965-T-A
• MyVariant Identifiers: chr11:g.17428512T>A (hg19) ; chr11:g.17406965T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406965T>A , CM000673.2:g.17406965T>A	GRCh38
NC_000011.9:g.17428512T>A , CM000673.1:g.17428512T>A	GRCh37
NC_000011.8:g.17385088T>A	NCBI36
NG_008867.1:g.74938A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2654A>T
ENST00000529967.6:n.1424A>T
ENST00000532220.2:n.817A>T
ENST00000642611.2:n.3154A>T
ENST00000645004.2:n.584A>T
ENST00000682051.1:n.3101A>T
ENST00000682110.1:n.3154A>T
ENST00000682140.1:c.3082A>T	ENSP00000507829.1:p.Ile1028Phe
ENST00000682185.1:n.4390A>T
ENST00000682204.1:c.*1223A>T	ENSP00000507094.1:n.*1223A>T
ENST00000682215.1:n.3151A>T
ENST00000682288.1:c.*1516A>T	ENSP00000507506.1:n.*1516A>T
ENST00000682442.1:n.3275A>T
ENST00000682528.1:n.3231A>T
ENST00000682673.1:n.3098A>T
ENST00000682805.1:n.3151A>T
ENST00000682965.1:c.3082A>T	ENSP00000508229.1:p.Ile1028Phe
ENST00000683093.1:n.3253A>T
ENST00000683136.1:c.3082A>T	ENSP00000507768.1:p.Ile1028Phe
ENST00000683153.1:n.3310A>T
ENST00000683365.1:n.3256A>T
ENST00000683377.1:n.3154A>T
ENST00000683456.1:c.*222A>T	ENSP00000508318.1:n.*222A>T
ENST00000683522.1:n.3154A>T
ENST00000683562.1:c.*1254A>T	ENSP00000508265.1:n.*1254A>T
ENST00000683693.1:n.3231A>T
ENST00000683725.1:c.3085A>T	ENSP00000507496.1:p.Ile1029Phe
ENST00000684010.1:n.3149A>T
ENST00000684157.1:n.3154A>T
ENST00000684253.1:n.3057A>T
ENST00000684288.1:c.*1257A>T	ENSP00000507143.1:n.*1257A>T
ENST00000684313.1:n.2586A>T
ENST00000684332.1:n.3227A>T
ENST00000684371.1:n.3260A>T
ENST00000684404.1:n.3197A>T
ENST00000684442.1:n.3154A>T
ENST00000684555.1:c.*1297A>T	ENSP00000507705.1:n.*1297A>T
ENST00000684571.1:c.2926A>T	ENSP00000506935.1:p.Ile976Phe
ENST00000684593.1:c.*2790A>T	ENSP00000507005.1:n.*2790A>T
ENST00000684711.1:c.*1481A>T	ENSP00000506841.1:n.*1481A>T
ENST00000302539.9:c.3088A>T	ENSP00000303960.4:p.Ile1030Phe
ENST00000389817.8:c.3085A>T MANE Select	ENSP00000374467.4:p.Ile1029Phe
ENST00000642271.1:c.3082A>T	ENSP00000493749.1:p.Ile1028Phe
ENST00000642579.1:c.1169A>T
ENST00000642611.1:n.3039A>T
ENST00000642902.1:c.2867A>T
ENST00000643260.1:c.3085A>T	ENSP00000494450.1:p.Ile1029Phe
ENST00000643562.1:c.*1061A>T	ENSP00000496124.1:n.*1061A>T
ENST00000643925.1:c.1209A>T
ENST00000644447.1:c.1441A>T	ENSP00000496282.1:p.Ile481Phe
ENST00000644484.1:c.*1340A>T	ENSP00000493558.1:n.*1340A>T
ENST00000644542.1:c.*2790A>T	ENSP00000495532.1:n.*2790A>T
ENST00000644675.1:c.*1257A>T	ENSP00000494567.1:n.*1257A>T
ENST00000644757.1:c.*1370A>T	ENSP00000495085.1:n.*1370A>T
ENST00000644772.1:c.3151A>T	ENSP00000494321.1:p.Ile1051Phe
ENST00000645004.1:n.224A>T
ENST00000645076.1:c.2284A>T
ENST00000645417.1:c.251A>T
ENST00000645744.1:c.*1349A>T	ENSP00000494564.1:n.*1349A>T
ENST00000645760.1:c.3360A>T
ENST00000645884.1:c.*222A>T	ENSP00000495516.1:n.*222A>T
ENST00000646003.1:c.*1041A>T	ENSP00000495259.1:n.*1041A>T
ENST00000646207.1:c.*1552A>T	ENSP00000495025.1:n.*1552A>T
ENST00000646276.1:c.*1358A>T	ENSP00000496070.1:n.*1358A>T
ENST00000646592.1:c.2391A>T
ENST00000646902.1:c.3082A>T	ENSP00000494101.1:p.Ile1028Phe
ENST00000646993.1:c.*1481A>T	ENSP00000493720.1:n.*1481A>T
ENST00000647013.1:c.3091A>T	ENSP00000496741.1:n.3091A>T
ENST00000647015.1:c.2836A>T	ENSP00000495389.1:p.Ile946Phe
ENST00000647086.1:c.*2815A>T	ENSP00000493677.1:n.*2815A>T
ENST00000647158.1:c.*1226A>T	ENSP00000495744.1:n.*1226A>T
ENST00000302539.8:c.3088A>T	ENSP00000303960.4:p.Ile1030Phe
ENST00000389817.7:c.3085A>T	ENSP00000374467.3:p.Ile1029Phe
ENST00000524561.1:n.217A>T
ENST00000526921.5:n.769A>T
ENST00000527905.5:c.2955A>T	ENSP00000431653.1:p.Pro985=
ENST00000529967.5:n.754A>T
NM_000352.4:c.3085A>T	NP_000343.2:p.Ile1029Phe
NM_001287174.1:c.3088A>T	NP_001274103.1:p.Ile1030Phe
XM_011520331.1:c.3085A>T	XP_011518633.1:p.Ile1029Phe
XM_011520332.1:c.3088A>T	XP_011518634.1:p.Ile1030Phe
XM_011520333.1:c.1585A>T	XP_011518635.1:p.Ile529Phe
XR_930890.1:n.3151A>T
XR_930891.1:n.3151A>T
XR_930892.1:n.3051A>T
XR_930893.1:n.3048A>T
NM_001351295.1:c.3151A>T	NP_001338224.1:p.Ile1051Phe
NM_001351296.1:c.3085A>T	NP_001338225.1:p.Ile1029Phe
NM_001351297.1:c.3082A>T	NP_001338226.1:p.Ile1028Phe
NR_147094.1:n.3234A>T
XM_017018197.2:c.3154A>T	XP_016873686.1:p.Ile1052Phe
XM_017018199.1:c.3151A>T	XP_016873688.1:p.Ile1051Phe
XM_017018201.2:c.3154A>T	XP_016873690.1:p.Ile1052Phe
XM_017018202.1:c.1651A>T	XP_016873691.1:p.Ile551Phe
XM_017018204.1:c.1042A>T	XP_016873693.1:p.Ile348Phe
XM_024448668.1:c.1453A>T	XP_024304436.1:p.Ile485Phe
XR_001747945.2:n.3226A>T
XR_001747946.2:n.3157A>T
XR_002957189.1:n.3306A>T
NM_000352.6:c.3085A>T MANE Select	NP_000343.2:p.Ile1029Phe
NM_001287174.2:c.3088A>T	NP_001274103.1:p.Ile1030Phe
NM_001351295.2:c.3151A>T	NP_001338224.1:p.Ile1051Phe
NM_001351296.2:c.3085A>T	NP_001338225.1:p.Ile1029Phe
NM_001351297.2:c.3082A>T	NP_001338226.1:p.Ile1028Phe
NR_147094.2:n.3234A>T
NM_001287174.3:c.3088A>T	NP_001274103.1:p.Ile1030Phe