Canonical Allele Identifier: CA597904391
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1189349398
gnomAD v2: 11-17417115-C-T
gnomAD v4: 11-17395568-C-T
MyVariant Identifiers: chr11:g.17417115C>T (hg19) chr11:g.17395568C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395568C>T , CM000673.2:g.17395568C>T GRCh38
NC_000011.9:g.17417115C>T , CM000673.1:g.17417115C>T GRCh37
NC_000011.8:g.17373691C>T NCBI36
NG_008867.1:g.86335G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3908+42G>A
ENST00000528374.2:c.898+42G>A
ENST00000529967.6:n.2646+42G>A
ENST00000532220.2:n.3540+42G>A
ENST00000642611.2:n.5640+42G>A
ENST00000644057.2:n.883+42G>A
ENST00000645004.2:n.1806+42G>A
ENST00000682051.1:n.4469+42G>A
ENST00000682110.1:n.4522+42G>A
ENST00000682140.1:c.*93+42G>A ENSP00000507829.1:n.*93+42G>A
ENST00000682185.1:n.5612+42G>A
ENST00000682204.1:c.*2445+42G>A ENSP00000507094.1:n.*2445+42G>A
ENST00000682215.1:n.4889+42G>A
ENST00000682288.1:c.*2738+42G>A ENSP00000507506.1:n.*2738+42G>A
ENST00000682442.1:n.4742+42G>A
ENST00000682528.1:n.4599+42G>A
ENST00000682673.1:n.4466+42G>A
ENST00000682805.1:n.4927+42G>A
ENST00000682965.1:c.*729+42G>A ENSP00000508229.1:n.*729+42G>A
ENST00000683093.1:n.5606+42G>A
ENST00000683136.1:c.4190+42G>A ENSP00000507768.1:n.4190+42G>A
ENST00000683153.1:n.4564+42G>A
ENST00000683365.1:n.4624+42G>A
ENST00000683377.1:n.4522+42G>A
ENST00000683456.1:c.*1444+42G>A ENSP00000508318.1:n.*1444+42G>A
ENST00000683522.1:n.4522+42G>A
ENST00000683562.1:c.*2476+42G>A ENSP00000508265.1:n.*2476+42G>A
ENST00000683693.1:n.6087+42G>A
ENST00000683725.1:c.4307+42G>A ENSP00000507496.1:n.4307+42G>A
ENST00000684010.1:n.4517+42G>A
ENST00000684157.1:n.5507+42G>A
ENST00000684253.1:n.4425+42G>A
ENST00000684288.1:c.*2479+42G>A ENSP00000507143.1:n.*2479+42G>A
ENST00000684313.1:n.3954+42G>A
ENST00000684332.1:n.4595+42G>A
ENST00000684371.1:n.4628+42G>A
ENST00000684404.1:n.5550+42G>A
ENST00000684442.1:n.4746+42G>A
ENST00000684555.1:c.*2519+42G>A ENSP00000507705.1:n.*2519+42G>A
ENST00000684571.1:c.4148+42G>A ENSP00000506935.1:n.4148+42G>A
ENST00000684593.1:c.*4012+42G>A ENSP00000507005.1:n.*4012+42G>A
ENST00000684711.1:c.*2703+42G>A ENSP00000506841.1:n.*2703+42G>A
ENST00000302539.9:c.4310+42G>A ENSP00000303960.4:n.4310+42G>A
ENST00000389817.8:c.4307+42G>A MANE Select ENSP00000374467.4:n.4307+42G>A
ENST00000642271.1:c.4304+42G>A ENSP00000493749.1:n.4304+42G>A
ENST00000642579.1:c.2361+42G>A
ENST00000642611.1:n.5525+42G>A
ENST00000642902.1:c.4089+42G>A
ENST00000643260.1:c.4307+42G>A ENSP00000494450.1:n.4307+42G>A
ENST00000643562.1:c.*2429+42G>A ENSP00000496124.1:n.*2429+42G>A
ENST00000643925.1:c.2947+42G>A
ENST00000644057.1:n.384+42G>A
ENST00000644484.1:c.*3693+42G>A ENSP00000493558.1:n.*3693+42G>A
ENST00000644675.1:c.*2479+42G>A ENSP00000494567.1:n.*2479+42G>A
ENST00000644757.1:c.*3202+696G>A ENSP00000495085.1:n.*3202+696G>A
ENST00000644772.1:c.4373+42G>A ENSP00000494321.1:n.4373+42G>A
ENST00000645004.1:n.2000+42G>A
ENST00000645076.1:c.3506+42G>A
ENST00000645417.1:c.1495+42G>A
ENST00000645744.1:c.*3992+42G>A ENSP00000494564.1:n.*3992+42G>A
ENST00000645760.1:c.4728+42G>A
ENST00000645884.1:c.*1590+42G>A ENSP00000495516.1:n.*1590+42G>A
ENST00000646003.1:c.*2329+42G>A ENSP00000495259.1:n.*2329+42G>A
ENST00000646207.1:c.*3144+42G>A ENSP00000495025.1:n.*3144+42G>A
ENST00000646276.1:c.*3711+42G>A ENSP00000496070.1:n.*3711+42G>A
ENST00000646592.1:c.3613+42G>A
ENST00000646902.1:c.4274+42G>A ENSP00000494101.1:n.4274+42G>A
ENST00000646993.1:c.*2849+42G>A ENSP00000493720.1:n.*2849+42G>A
ENST00000647013.1:c.4313+42G>A ENSP00000496741.1:n.4313+42G>A
ENST00000647015.1:c.4058+42G>A ENSP00000495389.1:n.4058+42G>A
ENST00000647086.1:c.*3893+42G>A ENSP00000493677.1:n.*3893+42G>A
ENST00000647158.1:c.*2594+42G>A ENSP00000495744.1:n.*2594+42G>A
ENST00000302539.8:c.4310+42G>A ENSP00000303960.4:n.4310+42G>A
ENST00000389817.7:c.4307+42G>A ENSP00000374467.3:n.4307+42G>A
ENST00000525022.1:n.306+42G>A
ENST00000526037.5:n.171+42G>A
ENST00000526168.5:c.95+42G>A
ENST00000531642.5:c.143+42G>A
NM_000352.4:c.4307+42G>A NP_000343.2:n.4307+42G>A
NM_001287174.1:c.4310+42G>A NP_001274103.1:n.4310+42G>A
XM_011520331.1:c.4307+42G>A XP_011518633.1:n.4307+42G>A
XM_011520332.1:c.4310+42G>A XP_011518634.1:n.4310+42G>A
XM_011520333.1:c.2807+42G>A XP_011518635.1:n.2807+42G>A
XR_930890.1:n.4373+42G>A
NM_001351295.1:c.4373+42G>A NP_001338224.1:n.4373+42G>A
NM_001351296.1:c.4307+42G>A NP_001338225.1:n.4307+42G>A
NM_001351297.1:c.4304+42G>A NP_001338226.1:n.4304+42G>A
NR_147094.1:n.4602+42G>A
XM_017018197.2:c.4376+42G>A XP_016873686.1:n.4376+42G>A
XM_017018199.1:c.4373+42G>A XP_016873688.1:n.4373+42G>A
XM_017018201.2:c.4376+42G>A XP_016873690.1:n.4376+42G>A
XM_017018202.1:c.2873+42G>A XP_016873691.1:n.2873+42G>A
XM_017018204.1:c.2264+42G>A XP_016873693.1:n.2264+42G>A
XM_024448668.1:c.2675+42G>A XP_024304436.1:n.2675+42G>A
XR_001747945.2:n.4448+42G>A
XR_001747946.2:n.4379+42G>A
XR_002957189.1:n.6162+42G>A
NM_000352.6:c.4307+42G>A MANE Select NP_000343.2:n.4307+42G>A
NM_001287174.2:c.4310+42G>A NP_001274103.1:n.4310+42G>A
NM_001351295.2:c.4373+42G>A NP_001338224.1:n.4373+42G>A
NM_001351296.2:c.4307+42G>A NP_001338225.1:n.4307+42G>A
NM_001351297.2:c.4304+42G>A NP_001338226.1:n.4304+42G>A
NR_147094.2:n.4602+42G>A
NM_001287174.3:c.4310+42G>A NP_001274103.1:n.4310+42G>A
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