Canonical Allele Identifier: CA2612641739
Gene: ABCC8 HGNC NCBI

Linked Data

gnomAD v4: 11-17396622-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396622T>G , CM000673.2:g.17396622T>G GRCh38
NC_000011.9:g.17418169T>G , CM000673.1:g.17418169T>G GRCh37
NC_000011.8:g.17374745T>G NCBI36
NG_008867.1:g.85281A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3720+294A>C
ENST00000528374.2:c.710+294A>C
ENST00000529967.6:n.2458+294A>C
ENST00000532220.2:n.2661A>C
ENST00000642611.2:n.4628A>C
ENST00000644057.2:n.562+294A>C
ENST00000645004.2:n.1618+294A>C
ENST00000682051.1:n.4281+294A>C
ENST00000682110.1:n.4334+294A>C
ENST00000682140.1:c.3985+571A>C ENSP00000507829.1:n.3985+571A>C
ENST00000682185.1:n.5424+294A>C
ENST00000682204.1:c.*2257+294A>C ENSP00000507094.1:n.*2257+294A>C
ENST00000682215.1:n.4701+294A>C
ENST00000682288.1:c.*2550+294A>C ENSP00000507506.1:n.*2550+294A>C
ENST00000682442.1:n.4554+294A>C
ENST00000682528.1:n.4411+294A>C
ENST00000682673.1:n.4278+294A>C
ENST00000682805.1:n.4739+256A>C
ENST00000682965.1:c.*541+294A>C ENSP00000508229.1:n.*541+294A>C
ENST00000683093.1:n.4727A>C
ENST00000683136.1:c.4002+294A>C ENSP00000507768.1:n.4002+294A>C
ENST00000683153.1:n.4376+294A>C
ENST00000683365.1:n.4436+294A>C
ENST00000683377.1:n.4334+294A>C
ENST00000683456.1:c.*1256+294A>C ENSP00000508318.1:n.*1256+294A>C
ENST00000683522.1:n.4334+294A>C
ENST00000683562.1:c.*2288+294A>C ENSP00000508265.1:n.*2288+294A>C
ENST00000683693.1:n.5075A>C
ENST00000683725.1:c.4119+294A>C ENSP00000507496.1:n.4119+294A>C
ENST00000684010.1:n.4329+294A>C
ENST00000684157.1:n.4628A>C
ENST00000684253.1:n.4237+294A>C
ENST00000684288.1:c.*2291+294A>C ENSP00000507143.1:n.*2291+294A>C
ENST00000684313.1:n.3766+294A>C
ENST00000684332.1:n.4407+294A>C
ENST00000684371.1:n.4440+294A>C
ENST00000684404.1:n.4671A>C
ENST00000684442.1:n.4558+294A>C
ENST00000684555.1:c.*2331+294A>C ENSP00000507705.1:n.*2331+294A>C
ENST00000684571.1:c.3960+294A>C ENSP00000506935.1:n.3960+294A>C
ENST00000684593.1:c.*3824+294A>C ENSP00000507005.1:n.*3824+294A>C
ENST00000684711.1:c.*2515+294A>C ENSP00000506841.1:n.*2515+294A>C
ENST00000302539.9:c.4122+294A>C ENSP00000303960.4:n.4122+294A>C
ENST00000389817.8:c.4119+294A>C MANE Select ENSP00000374467.4:n.4119+294A>C
ENST00000642271.1:c.4116+294A>C ENSP00000493749.1:n.4116+294A>C
ENST00000642579.1:c.2173+294A>C
ENST00000642611.1:n.4513A>C
ENST00000642902.1:c.3901+294A>C
ENST00000643260.1:c.4119+294A>C ENSP00000494450.1:n.4119+294A>C
ENST00000643562.1:c.*2241+294A>C ENSP00000496124.1:n.*2241+294A>C
ENST00000643925.1:c.2759+294A>C
ENST00000644057.1:n.196+294A>C
ENST00000644484.1:c.*2814A>C ENSP00000493558.1:n.*2814A>C
ENST00000644675.1:c.*2291+294A>C ENSP00000494567.1:n.*2291+294A>C
ENST00000644757.1:c.*2844A>C ENSP00000495085.1:n.*2844A>C
ENST00000644772.1:c.4185+294A>C ENSP00000494321.1:n.4185+294A>C
ENST00000645004.1:n.1812+256A>C
ENST00000645076.1:c.3318+294A>C
ENST00000645417.1:c.1307+294A>C
ENST00000645744.1:c.*3193A>C ENSP00000494564.1:n.*3193A>C
ENST00000645760.1:c.4540+294A>C
ENST00000645884.1:c.*1402+294A>C ENSP00000495516.1:n.*1402+294A>C
ENST00000646003.1:c.*2221+294A>C ENSP00000495259.1:n.*2221+294A>C
ENST00000646207.1:c.*2956+294A>C ENSP00000495025.1:n.*2956+294A>C
ENST00000646276.1:c.*2832A>C ENSP00000496070.1:n.*2832A>C
ENST00000646592.1:c.3425+294A>C
ENST00000646902.1:c.4086+294A>C ENSP00000494101.1:n.4086+294A>C
ENST00000646993.1:c.*2661+294A>C ENSP00000493720.1:n.*2661+294A>C
ENST00000647013.1:c.4125+294A>C ENSP00000496741.1:n.4125+294A>C
ENST00000647015.1:c.3870+294A>C ENSP00000495389.1:n.3870+294A>C
ENST00000647086.1:c.*3705+294A>C ENSP00000493677.1:n.*3705+294A>C
ENST00000647158.1:c.*2406+294A>C ENSP00000495744.1:n.*2406+294A>C
ENST00000302539.8:c.4122+294A>C ENSP00000303960.4:n.4122+294A>C
ENST00000389817.7:c.4119+294A>C ENSP00000374467.3:n.4119+294A>C
ENST00000528374.1:c.601+294A>C
ENST00000532220.1:n.593+294A>C
NM_000352.4:c.4119+294A>C NP_000343.2:n.4119+294A>C
NM_001287174.1:c.4122+294A>C NP_001274103.1:n.4122+294A>C
XM_011520331.1:c.4119+294A>C XP_011518633.1:n.4119+294A>C
XM_011520332.1:c.4122+294A>C XP_011518634.1:n.4122+294A>C
XM_011520333.1:c.2619+294A>C XP_011518635.1:n.2619+294A>C
XR_930890.1:n.4185+294A>C
NM_001351295.1:c.4185+294A>C NP_001338224.1:n.4185+294A>C
NM_001351296.1:c.4119+294A>C NP_001338225.1:n.4119+294A>C
NM_001351297.1:c.4116+294A>C NP_001338226.1:n.4116+294A>C
NR_147094.1:n.4414+294A>C
XM_017018197.2:c.4188+294A>C XP_016873686.1:n.4188+294A>C
XM_017018199.1:c.4185+294A>C XP_016873688.1:n.4185+294A>C
XM_017018201.2:c.4188+294A>C XP_016873690.1:n.4188+294A>C
XM_017018202.1:c.2685+294A>C XP_016873691.1:n.2685+294A>C
XM_017018204.1:c.2076+294A>C XP_016873693.1:n.2076+294A>C
XM_024448668.1:c.2487+294A>C XP_024304436.1:n.2487+294A>C
XR_001747945.2:n.4260+294A>C
XR_001747946.2:n.4191+294A>C
XR_002957189.1:n.5150A>C
NM_000352.6:c.4119+294A>C MANE Select NP_000343.2:n.4119+294A>C
NM_001287174.2:c.4122+294A>C NP_001274103.1:n.4122+294A>C
NM_001351295.2:c.4185+294A>C NP_001338224.1:n.4185+294A>C
NM_001351296.2:c.4119+294A>C NP_001338225.1:n.4119+294A>C
NM_001351297.2:c.4116+294A>C NP_001338226.1:n.4116+294A>C
NR_147094.2:n.4414+294A>C
NM_001287174.3:c.4122+294A>C NP_001274103.1:n.4122+294A>C
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