Canonical Allele Identifier: CA597904378
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1167161890
gnomAD v2: 11-17417005-A-G
gnomAD v4: 11-17395458-A-G
MyVariant Identifiers: chr11:g.17417005A>G (hg19) chr11:g.17395458A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395458A>G , CM000673.2:g.17395458A>G GRCh38
NC_000011.9:g.17417005A>G , CM000673.1:g.17417005A>G GRCh37
NC_000011.8:g.17373581A>G NCBI36
NG_008867.1:g.86445T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3908+152T>C
ENST00000526037.6:n.60T>C
ENST00000528374.2:c.898+152T>C
ENST00000529967.6:n.2646+152T>C
ENST00000532220.2:n.3540+152T>C
ENST00000642611.2:n.5640+152T>C
ENST00000644057.2:n.883+152T>C
ENST00000645004.2:n.1806+152T>C
ENST00000682051.1:n.4469+152T>C
ENST00000682110.1:n.4522+152T>C
ENST00000682140.1:c.*93+152T>C ENSP00000507829.1:n.*93+152T>C
ENST00000682185.1:n.5612+152T>C
ENST00000682204.1:c.*2445+152T>C ENSP00000507094.1:n.*2445+152T>C
ENST00000682215.1:n.4889+152T>C
ENST00000682288.1:c.*2738+152T>C ENSP00000507506.1:n.*2738+152T>C
ENST00000682442.1:n.4742+152T>C
ENST00000682528.1:n.4599+152T>C
ENST00000682673.1:n.4466+152T>C
ENST00000682805.1:n.4927+152T>C
ENST00000682965.1:c.*729+152T>C ENSP00000508229.1:n.*729+152T>C
ENST00000683093.1:n.5606+152T>C
ENST00000683136.1:c.4190+152T>C ENSP00000507768.1:n.4190+152T>C
ENST00000683153.1:n.4564+152T>C
ENST00000683365.1:n.4624+152T>C
ENST00000683377.1:n.4522+152T>C
ENST00000683456.1:c.*1444+152T>C ENSP00000508318.1:n.*1444+152T>C
ENST00000683522.1:n.4522+152T>C
ENST00000683562.1:c.*2476+152T>C ENSP00000508265.1:n.*2476+152T>C
ENST00000683693.1:n.6087+152T>C
ENST00000683725.1:c.4307+152T>C ENSP00000507496.1:n.4307+152T>C
ENST00000684010.1:n.4517+152T>C
ENST00000684157.1:n.5507+152T>C
ENST00000684253.1:n.4425+152T>C
ENST00000684288.1:c.*2479+152T>C ENSP00000507143.1:n.*2479+152T>C
ENST00000684313.1:n.3954+152T>C
ENST00000684332.1:n.4595+152T>C
ENST00000684371.1:n.4628+152T>C
ENST00000684404.1:n.5550+152T>C
ENST00000684442.1:n.4746+152T>C
ENST00000684555.1:c.*2519+152T>C ENSP00000507705.1:n.*2519+152T>C
ENST00000684571.1:c.4148+152T>C ENSP00000506935.1:n.4148+152T>C
ENST00000684593.1:c.*4012+152T>C ENSP00000507005.1:n.*4012+152T>C
ENST00000684711.1:c.*2703+152T>C ENSP00000506841.1:n.*2703+152T>C
ENST00000302539.9:c.4310+152T>C ENSP00000303960.4:n.4310+152T>C
ENST00000389817.8:c.4307+152T>C MANE Select ENSP00000374467.4:n.4307+152T>C
ENST00000642271.1:c.4304+152T>C ENSP00000493749.1:n.4304+152T>C
ENST00000642579.1:c.2361+152T>C
ENST00000642611.1:n.5525+152T>C
ENST00000642902.1:c.4089+152T>C
ENST00000643260.1:c.4307+152T>C ENSP00000494450.1:n.4307+152T>C
ENST00000643562.1:c.*2429+152T>C ENSP00000496124.1:n.*2429+152T>C
ENST00000643925.1:c.2947+152T>C
ENST00000644057.1:n.384+152T>C
ENST00000644484.1:c.*3693+152T>C ENSP00000493558.1:n.*3693+152T>C
ENST00000644675.1:c.*2479+152T>C ENSP00000494567.1:n.*2479+152T>C
ENST00000644757.1:c.*3202+806T>C ENSP00000495085.1:n.*3202+806T>C
ENST00000644772.1:c.4373+152T>C ENSP00000494321.1:n.4373+152T>C
ENST00000645004.1:n.2000+152T>C
ENST00000645076.1:c.3506+152T>C
ENST00000645417.1:c.1495+152T>C
ENST00000645744.1:c.*3992+152T>C ENSP00000494564.1:n.*3992+152T>C
ENST00000645760.1:c.4728+152T>C
ENST00000645884.1:c.*1590+152T>C ENSP00000495516.1:n.*1590+152T>C
ENST00000646003.1:c.*2329+152T>C ENSP00000495259.1:n.*2329+152T>C
ENST00000646207.1:c.*3144+152T>C ENSP00000495025.1:n.*3144+152T>C
ENST00000646276.1:c.*3711+152T>C ENSP00000496070.1:n.*3711+152T>C
ENST00000646592.1:c.3613+152T>C
ENST00000646902.1:c.4274+152T>C ENSP00000494101.1:n.4274+152T>C
ENST00000646993.1:c.*2849+152T>C ENSP00000493720.1:n.*2849+152T>C
ENST00000647013.1:c.4313+152T>C ENSP00000496741.1:n.4313+152T>C
ENST00000647015.1:c.4058+152T>C ENSP00000495389.1:n.4058+152T>C
ENST00000647086.1:c.*3893+152T>C ENSP00000493677.1:n.*3893+152T>C
ENST00000647158.1:c.*2594+152T>C ENSP00000495744.1:n.*2594+152T>C
ENST00000302539.8:c.4310+152T>C ENSP00000303960.4:n.4310+152T>C
ENST00000389817.7:c.4307+152T>C ENSP00000374467.3:n.4307+152T>C
ENST00000525022.1:n.306+152T>C
ENST00000526037.5:n.171+152T>C
ENST00000526168.5:c.95+152T>C
ENST00000531642.5:c.156T>C
NM_000352.4:c.4307+152T>C NP_000343.2:n.4307+152T>C
NM_001287174.1:c.4310+152T>C NP_001274103.1:n.4310+152T>C
XM_011520331.1:c.4307+152T>C XP_011518633.1:n.4307+152T>C
XM_011520332.1:c.4310+152T>C XP_011518634.1:n.4310+152T>C
XM_011520333.1:c.2807+152T>C XP_011518635.1:n.2807+152T>C
XR_930890.1:n.4373+152T>C
NM_001351295.1:c.4373+152T>C NP_001338224.1:n.4373+152T>C
NM_001351296.1:c.4307+152T>C NP_001338225.1:n.4307+152T>C
NM_001351297.1:c.4304+152T>C NP_001338226.1:n.4304+152T>C
NR_147094.1:n.4602+152T>C
XM_017018197.2:c.4376+152T>C XP_016873686.1:n.4376+152T>C
XM_017018199.1:c.4373+152T>C XP_016873688.1:n.4373+152T>C
XM_017018201.2:c.4376+152T>C XP_016873690.1:n.4376+152T>C
XM_017018202.1:c.2873+152T>C XP_016873691.1:n.2873+152T>C
XM_017018204.1:c.2264+152T>C XP_016873693.1:n.2264+152T>C
XM_024448668.1:c.2675+152T>C XP_024304436.1:n.2675+152T>C
XR_001747945.2:n.4448+152T>C
XR_001747946.2:n.4379+152T>C
XR_002957189.1:n.6162+152T>C
NM_000352.6:c.4307+152T>C MANE Select NP_000343.2:n.4307+152T>C
NM_001287174.2:c.4310+152T>C NP_001274103.1:n.4310+152T>C
NM_001351295.2:c.4373+152T>C NP_001338224.1:n.4373+152T>C
NM_001351296.2:c.4307+152T>C NP_001338225.1:n.4307+152T>C
NM_001351297.2:c.4304+152T>C NP_001338226.1:n.4304+152T>C
NR_147094.2:n.4602+152T>C
NM_001287174.3:c.4310+152T>C NP_001274103.1:n.4310+152T>C
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