Canonical Allele Identifier: CA2612641268
Gene: ABCC8 HGNC NCBI

Linked Data

gnomAD v4: 11-17396485-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396485C>T , CM000673.2:g.17396485C>T GRCh38
NC_000011.9:g.17418032C>T , CM000673.1:g.17418032C>T GRCh37
NC_000011.8:g.17374608C>T NCBI36
NG_008867.1:g.85418G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3720+431G>A
ENST00000528374.2:c.710+431G>A
ENST00000529967.6:n.2458+431G>A
ENST00000532220.2:n.2798G>A
ENST00000642611.2:n.4765G>A
ENST00000644057.2:n.562+431G>A
ENST00000645004.2:n.1618+431G>A
ENST00000682051.1:n.4281+431G>A
ENST00000682110.1:n.4334+431G>A
ENST00000682140.1:c.3986-555G>A ENSP00000507829.1:n.3986-555G>A
ENST00000682185.1:n.5424+431G>A
ENST00000682204.1:c.*2257+431G>A ENSP00000507094.1:n.*2257+431G>A
ENST00000682215.1:n.4701+431G>A
ENST00000682288.1:c.*2550+431G>A ENSP00000507506.1:n.*2550+431G>A
ENST00000682442.1:n.4554+431G>A
ENST00000682528.1:n.4411+431G>A
ENST00000682673.1:n.4278+431G>A
ENST00000682805.1:n.4739+393G>A
ENST00000682965.1:c.*541+431G>A ENSP00000508229.1:n.*541+431G>A
ENST00000683093.1:n.4864G>A
ENST00000683136.1:c.4002+431G>A ENSP00000507768.1:n.4002+431G>A
ENST00000683153.1:n.4376+431G>A
ENST00000683365.1:n.4436+431G>A
ENST00000683377.1:n.4334+431G>A
ENST00000683456.1:c.*1256+431G>A ENSP00000508318.1:n.*1256+431G>A
ENST00000683522.1:n.4334+431G>A
ENST00000683562.1:c.*2288+431G>A ENSP00000508265.1:n.*2288+431G>A
ENST00000683693.1:n.5212G>A
ENST00000683725.1:c.4119+431G>A ENSP00000507496.1:n.4119+431G>A
ENST00000684010.1:n.4329+431G>A
ENST00000684157.1:n.4765G>A
ENST00000684253.1:n.4237+431G>A
ENST00000684288.1:c.*2291+431G>A ENSP00000507143.1:n.*2291+431G>A
ENST00000684313.1:n.3766+431G>A
ENST00000684332.1:n.4407+431G>A
ENST00000684371.1:n.4440+431G>A
ENST00000684404.1:n.4808G>A
ENST00000684442.1:n.4558+431G>A
ENST00000684555.1:c.*2331+431G>A ENSP00000507705.1:n.*2331+431G>A
ENST00000684571.1:c.3960+431G>A ENSP00000506935.1:n.3960+431G>A
ENST00000684593.1:c.*3824+431G>A ENSP00000507005.1:n.*3824+431G>A
ENST00000684711.1:c.*2515+431G>A ENSP00000506841.1:n.*2515+431G>A
ENST00000302539.9:c.4122+431G>A ENSP00000303960.4:n.4122+431G>A
ENST00000389817.8:c.4119+431G>A MANE Select ENSP00000374467.4:n.4119+431G>A
ENST00000642271.1:c.4116+431G>A ENSP00000493749.1:n.4116+431G>A
ENST00000642579.1:c.2173+431G>A
ENST00000642611.1:n.4650G>A
ENST00000642902.1:c.3901+431G>A
ENST00000643260.1:c.4119+431G>A ENSP00000494450.1:n.4119+431G>A
ENST00000643562.1:c.*2241+431G>A ENSP00000496124.1:n.*2241+431G>A
ENST00000643925.1:c.2759+431G>A
ENST00000644057.1:n.196+431G>A
ENST00000644484.1:c.*2951G>A ENSP00000493558.1:n.*2951G>A
ENST00000644675.1:c.*2291+431G>A ENSP00000494567.1:n.*2291+431G>A
ENST00000644757.1:c.*2981G>A ENSP00000495085.1:n.*2981G>A
ENST00000644772.1:c.4185+431G>A ENSP00000494321.1:n.4185+431G>A
ENST00000645004.1:n.1812+393G>A
ENST00000645076.1:c.3318+431G>A
ENST00000645417.1:c.1307+431G>A
ENST00000645744.1:c.*3330G>A ENSP00000494564.1:n.*3330G>A
ENST00000645760.1:c.4540+431G>A
ENST00000645884.1:c.*1402+431G>A ENSP00000495516.1:n.*1402+431G>A
ENST00000646003.1:c.*2221+431G>A ENSP00000495259.1:n.*2221+431G>A
ENST00000646207.1:c.*2956+431G>A ENSP00000495025.1:n.*2956+431G>A
ENST00000646276.1:c.*2969G>A ENSP00000496070.1:n.*2969G>A
ENST00000646592.1:c.3425+431G>A
ENST00000646902.1:c.4086+431G>A ENSP00000494101.1:n.4086+431G>A
ENST00000646993.1:c.*2661+431G>A ENSP00000493720.1:n.*2661+431G>A
ENST00000647013.1:c.4125+431G>A ENSP00000496741.1:n.4125+431G>A
ENST00000647015.1:c.3870+431G>A ENSP00000495389.1:n.3870+431G>A
ENST00000647086.1:c.*3705+431G>A ENSP00000493677.1:n.*3705+431G>A
ENST00000647158.1:c.*2406+431G>A ENSP00000495744.1:n.*2406+431G>A
ENST00000302539.8:c.4122+431G>A ENSP00000303960.4:n.4122+431G>A
ENST00000389817.7:c.4119+431G>A ENSP00000374467.3:n.4119+431G>A
ENST00000528374.1:c.601+431G>A
ENST00000532220.1:n.593+431G>A
NM_000352.4:c.4119+431G>A NP_000343.2:n.4119+431G>A
NM_001287174.1:c.4122+431G>A NP_001274103.1:n.4122+431G>A
XM_011520331.1:c.4119+431G>A XP_011518633.1:n.4119+431G>A
XM_011520332.1:c.4122+431G>A XP_011518634.1:n.4122+431G>A
XM_011520333.1:c.2619+431G>A XP_011518635.1:n.2619+431G>A
XR_930890.1:n.4185+431G>A
NM_001351295.1:c.4185+431G>A NP_001338224.1:n.4185+431G>A
NM_001351296.1:c.4119+431G>A NP_001338225.1:n.4119+431G>A
NM_001351297.1:c.4116+431G>A NP_001338226.1:n.4116+431G>A
NR_147094.1:n.4414+431G>A
XM_017018197.2:c.4188+431G>A XP_016873686.1:n.4188+431G>A
XM_017018199.1:c.4185+431G>A XP_016873688.1:n.4185+431G>A
XM_017018201.2:c.4188+431G>A XP_016873690.1:n.4188+431G>A
XM_017018202.1:c.2685+431G>A XP_016873691.1:n.2685+431G>A
XM_017018204.1:c.2076+431G>A XP_016873693.1:n.2076+431G>A
XM_024448668.1:c.2487+431G>A XP_024304436.1:n.2487+431G>A
XR_001747945.2:n.4260+431G>A
XR_001747946.2:n.4191+431G>A
XR_002957189.1:n.5287G>A
NM_000352.6:c.4119+431G>A MANE Select NP_000343.2:n.4119+431G>A
NM_001287174.2:c.4122+431G>A NP_001274103.1:n.4122+431G>A
NM_001351295.2:c.4185+431G>A NP_001338224.1:n.4185+431G>A
NM_001351296.2:c.4119+431G>A NP_001338225.1:n.4119+431G>A
NM_001351297.2:c.4116+431G>A NP_001338226.1:n.4116+431G>A
NR_147094.2:n.4414+431G>A
NM_001287174.3:c.4122+431G>A NP_001274103.1:n.4122+431G>A
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