Canonical Allele Identifier: CA473298261
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17417243A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395696A>G , CM000673.2:g.17395696A>G GRCh38
NC_000011.9:g.17417243A>G , CM000673.1:g.17417243A>G GRCh37
NC_000011.8:g.17373819A>G NCBI36
NG_008867.1:g.86207T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3822T>C
ENST00000528374.2:c.812T>C
ENST00000529967.6:n.2560T>C
ENST00000532220.2:n.3454T>C
ENST00000642611.2:n.5554T>C
ENST00000644057.2:n.797T>C
ENST00000645004.2:n.1720T>C
ENST00000682051.1:n.4383T>C
ENST00000682110.1:n.4436T>C
ENST00000682140.1:c.*7T>C ENSP00000507829.1:n.*7T>C
ENST00000682185.1:n.5526T>C
ENST00000682204.1:c.*2359T>C ENSP00000507094.1:n.*2359T>C
ENST00000682215.1:n.4803T>C
ENST00000682288.1:c.*2652T>C ENSP00000507506.1:n.*2652T>C
ENST00000682442.1:n.4656T>C
ENST00000682528.1:n.4513T>C
ENST00000682673.1:n.4380T>C
ENST00000682805.1:n.4841T>C
ENST00000682965.1:c.*643T>C ENSP00000508229.1:n.*643T>C
ENST00000683093.1:n.5520T>C
ENST00000683136.1:c.4104T>C ENSP00000507768.1:p.Ile1368=
ENST00000683153.1:n.4478T>C
ENST00000683365.1:n.4538T>C
ENST00000683377.1:n.4436T>C
ENST00000683456.1:c.*1358T>C ENSP00000508318.1:n.*1358T>C
ENST00000683522.1:n.4436T>C
ENST00000683562.1:c.*2390T>C ENSP00000508265.1:n.*2390T>C
ENST00000683693.1:n.6001T>C
ENST00000683725.1:c.4221T>C ENSP00000507496.1:p.Ile1407=
ENST00000684010.1:n.4431T>C
ENST00000684157.1:n.5421T>C
ENST00000684253.1:n.4339T>C
ENST00000684288.1:c.*2393T>C ENSP00000507143.1:n.*2393T>C
ENST00000684313.1:n.3868T>C
ENST00000684332.1:n.4509T>C
ENST00000684371.1:n.4542T>C
ENST00000684404.1:n.5464T>C
ENST00000684442.1:n.4660T>C
ENST00000684555.1:c.*2433T>C ENSP00000507705.1:n.*2433T>C
ENST00000684571.1:c.4062T>C ENSP00000506935.1:p.Ile1354=
ENST00000684593.1:c.*3926T>C ENSP00000507005.1:n.*3926T>C
ENST00000684711.1:c.*2617T>C ENSP00000506841.1:n.*2617T>C
ENST00000302539.9:c.4224T>C ENSP00000303960.4:p.Ile1408=
ENST00000389817.8:c.4221T>C MANE Select ENSP00000374467.4:p.Ile1407=
ENST00000642271.1:c.4218T>C ENSP00000493749.1:p.Ile1406=
ENST00000642579.1:c.2275T>C
ENST00000642611.1:n.5439T>C
ENST00000642902.1:c.4003T>C
ENST00000643260.1:c.4221T>C ENSP00000494450.1:p.Ile1407=
ENST00000643562.1:c.*2343T>C ENSP00000496124.1:n.*2343T>C
ENST00000643925.1:c.2861T>C
ENST00000644057.1:n.298T>C
ENST00000644484.1:c.*3607T>C ENSP00000493558.1:n.*3607T>C
ENST00000644675.1:c.*2393T>C ENSP00000494567.1:n.*2393T>C
ENST00000644757.1:c.*3202+568T>C ENSP00000495085.1:n.*3202+568T>C
ENST00000644772.1:c.4287T>C ENSP00000494321.1:p.Ile1429=
ENST00000645004.1:n.1914T>C
ENST00000645076.1:c.3420T>C
ENST00000645417.1:c.1409T>C
ENST00000645744.1:c.*3964-58T>C ENSP00000494564.1:n.*3964-58T>C
ENST00000645760.1:c.4642T>C
ENST00000645884.1:c.*1504T>C ENSP00000495516.1:n.*1504T>C
ENST00000646003.1:c.*2301-58T>C ENSP00000495259.1:n.*2301-58T>C
ENST00000646207.1:c.*3058T>C ENSP00000495025.1:n.*3058T>C
ENST00000646276.1:c.*3625T>C ENSP00000496070.1:n.*3625T>C
ENST00000646592.1:c.3527T>C
ENST00000646902.1:c.4188T>C ENSP00000494101.1:p.Ile1396=
ENST00000646993.1:c.*2763T>C ENSP00000493720.1:n.*2763T>C
ENST00000647013.1:c.4227T>C ENSP00000496741.1:n.4227T>C
ENST00000647015.1:c.3972T>C ENSP00000495389.1:p.Ile1324=
ENST00000647086.1:c.*3807T>C ENSP00000493677.1:n.*3807T>C
ENST00000647158.1:c.*2508T>C ENSP00000495744.1:n.*2508T>C
ENST00000302539.8:c.4224T>C ENSP00000303960.4:p.Ile1408=
ENST00000389817.7:c.4221T>C ENSP00000374467.3:p.Ile1407=
ENST00000525022.1:n.220T>C
ENST00000526037.5:n.85T>C
ENST00000526168.5:c.67-58T>C
ENST00000531642.5:c.57T>C
NM_000352.4:c.4221T>C NP_000343.2:p.Ile1407=
NM_001287174.1:c.4224T>C NP_001274103.1:p.Ile1408=
XM_011520331.1:c.4221T>C XP_011518633.1:p.Ile1407=
XM_011520332.1:c.4224T>C XP_011518634.1:p.Ile1408=
XM_011520333.1:c.2721T>C XP_011518635.1:p.Ile907=
XR_930890.1:n.4287T>C
NM_001351295.1:c.4287T>C NP_001338224.1:p.Ile1429=
NM_001351296.1:c.4221T>C NP_001338225.1:p.Ile1407=
NM_001351297.1:c.4218T>C NP_001338226.1:p.Ile1406=
NR_147094.1:n.4516T>C
XM_017018197.2:c.4290T>C XP_016873686.1:p.Ile1430=
XM_017018199.1:c.4287T>C XP_016873688.1:p.Ile1429=
XM_017018201.2:c.4290T>C XP_016873690.1:p.Ile1430=
XM_017018202.1:c.2787T>C XP_016873691.1:p.Ile929=
XM_017018204.1:c.2178T>C XP_016873693.1:p.Ile726=
XM_024448668.1:c.2589T>C XP_024304436.1:p.Ile863=
XR_001747945.2:n.4362T>C
XR_001747946.2:n.4293T>C
XR_002957189.1:n.6076T>C
NM_000352.6:c.4221T>C MANE Select NP_000343.2:p.Ile1407=
NM_001287174.2:c.4224T>C NP_001274103.1:p.Ile1408=
NM_001351295.2:c.4287T>C NP_001338224.1:p.Ile1429=
NM_001351296.2:c.4221T>C NP_001338225.1:p.Ile1407=
NM_001351297.2:c.4218T>C NP_001338226.1:p.Ile1406=
NR_147094.2:n.4516T>C
NM_001287174.3:c.4224T>C NP_001274103.1:p.Ile1408=