Canonical Allele Identifier: CA5902430
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2154390
ClinVar RCV Id: RCV003081762
dbSNP Id: rs774041537
ExAC: 11:17415324 C / T
gnomAD v2: 11-17415324-C-T
gnomAD v3: 11-17393777-C-T
gnomAD v4: 11-17393777-C-T
MyVariant Identifiers: chr11:g.17415324C>T (hg19) chr11:g.17393777C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393777C>T , CM000673.2:g.17393777C>T GRCh38
NC_000011.9:g.17415324C>T , CM000673.1:g.17415324C>T GRCh37
NC_000011.8:g.17371900C>T NCBI36
NG_008867.1:g.88126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4147-18G>A
ENST00000526037.6:n.481-18G>A
ENST00000528374.2:c.1137-18G>A
ENST00000529967.6:n.2885-18G>A
ENST00000532220.2:n.3779-18G>A
ENST00000642611.2:n.5879-18G>A
ENST00000644057.2:n.1122-18G>A
ENST00000645004.2:n.2045-18G>A
ENST00000682051.1:n.4708-18G>A
ENST00000682110.1:n.4761-18G>A
ENST00000682140.1:c.*332-18G>A ENSP00000507829.1:n.*332-18G>A
ENST00000682185.1:n.5851-18G>A
ENST00000682204.1:c.*2684-18G>A ENSP00000507094.1:n.*2684-18G>A
ENST00000682215.1:n.5128-18G>A
ENST00000682288.1:c.*2977-18G>A ENSP00000507506.1:n.*2977-18G>A
ENST00000682442.1:n.4981-18G>A
ENST00000682528.1:n.4838-18G>A
ENST00000682673.1:n.4705-18G>A
ENST00000682805.1:n.5166-18G>A
ENST00000682965.1:c.*968-18G>A ENSP00000508229.1:n.*968-18G>A
ENST00000683093.1:n.5741-18G>A
ENST00000683136.1:c.4429-18G>A ENSP00000507768.1:n.4429-18G>A
ENST00000683153.1:n.4803-18G>A
ENST00000683365.1:n.4863-18G>A
ENST00000683377.1:n.4657-18G>A
ENST00000683456.1:c.*1683-18G>A ENSP00000508318.1:n.*1683-18G>A
ENST00000683522.1:n.4843-18G>A
ENST00000683562.1:c.*2611-18G>A ENSP00000508265.1:n.*2611-18G>A
ENST00000683693.1:n.6222-18G>A
ENST00000683725.1:c.*11-18G>A ENSP00000507496.1:n.*11-18G>A
ENST00000684010.1:n.4756-18G>A
ENST00000684014.1:n.733-18G>A
ENST00000684157.1:n.5746-18G>A
ENST00000684253.1:n.4664-18G>A
ENST00000684288.1:c.*2718-18G>A ENSP00000507143.1:n.*2718-18G>A
ENST00000684313.1:n.4193-18G>A
ENST00000684332.1:n.4834-18G>A
ENST00000684371.1:n.4867-18G>A
ENST00000684404.1:n.5789-18G>A
ENST00000684442.1:n.4985-18G>A
ENST00000684555.1:c.*2758-18G>A ENSP00000507705.1:n.*2758-18G>A
ENST00000684571.1:c.4387-18G>A ENSP00000506935.1:n.4387-18G>A
ENST00000684593.1:c.*4251-18G>A ENSP00000507005.1:n.*4251-18G>A
ENST00000684711.1:c.*2942-18G>A ENSP00000506841.1:n.*2942-18G>A
ENST00000302539.9:c.4549-18G>A ENSP00000303960.4:n.4549-18G>A
ENST00000389817.8:c.4546-18G>A MANE Select ENSP00000374467.4:n.4546-18G>A
ENST00000642271.1:c.4543-18G>A ENSP00000493749.1:n.4543-18G>A
ENST00000642579.1:c.2600-18G>A
ENST00000642611.1:n.5764-18G>A
ENST00000642902.1:c.4328-18G>A
ENST00000643260.1:c.4546-18G>A ENSP00000494450.1:n.4546-18G>A
ENST00000643562.1:c.*2668-18G>A ENSP00000496124.1:n.*2668-18G>A
ENST00000643925.1:c.3185+489G>A
ENST00000644057.1:n.705-18G>A
ENST00000644484.1:c.*3932-18G>A ENSP00000493558.1:n.*3932-18G>A
ENST00000644675.1:c.*2718-18G>A ENSP00000494567.1:n.*2718-18G>A
ENST00000644757.1:c.*3203-797G>A ENSP00000495085.1:n.*3203-797G>A
ENST00000644772.1:c.4612-18G>A ENSP00000494321.1:n.4612-18G>A
ENST00000645004.1:n.2239-18G>A
ENST00000645076.1:c.3641-18G>A
ENST00000645417.1:c.1734-18G>A
ENST00000645744.1:c.*4231-18G>A ENSP00000494564.1:n.*4231-18G>A
ENST00000645760.1:c.4967-18G>A
ENST00000645884.1:c.*1829-18G>A ENSP00000495516.1:n.*1829-18G>A
ENST00000646003.1:c.*2568-18G>A ENSP00000495259.1:n.*2568-18G>A
ENST00000646207.1:c.*3383-18G>A ENSP00000495025.1:n.*3383-18G>A
ENST00000646276.1:c.*3950-18G>A ENSP00000496070.1:n.*3950-18G>A
ENST00000646592.1:c.3852-18G>A
ENST00000646902.1:c.4513-18G>A ENSP00000494101.1:n.4513-18G>A
ENST00000646993.1:c.*2984-18G>A ENSP00000493720.1:n.*2984-18G>A
ENST00000647015.1:c.4297-18G>A ENSP00000495389.1:n.4297-18G>A
ENST00000647086.1:c.*4132-18G>A ENSP00000493677.1:n.*4132-18G>A
ENST00000647158.1:c.*2833-18G>A ENSP00000495744.1:n.*2833-18G>A
ENST00000302539.8:c.4549-18G>A ENSP00000303960.4:n.4549-18G>A
ENST00000389817.7:c.4546-18G>A ENSP00000374467.3:n.4546-18G>A
ENST00000525022.1:n.441-18G>A
ENST00000526037.5:n.306-18G>A
ENST00000526168.5:c.334-18G>A
ENST00000531642.5:c.577-18G>A
NM_000352.4:c.4546-18G>A NP_000343.2:n.4546-18G>A
NM_001287174.1:c.4549-18G>A NP_001274103.1:n.4549-18G>A
XM_011520331.1:c.4546-18G>A XP_011518633.1:n.4546-18G>A
XM_011520333.1:c.3046-18G>A XP_011518635.1:n.3046-18G>A
XR_930890.1:n.4508-18G>A
NM_001351295.1:c.4612-18G>A NP_001338224.1:n.4612-18G>A
NM_001351296.1:c.4546-18G>A NP_001338225.1:n.4546-18G>A
NM_001351297.1:c.4543-18G>A NP_001338226.1:n.4543-18G>A
NR_147094.1:n.4841-18G>A
XM_017018197.2:c.4615-18G>A XP_016873686.1:n.4615-18G>A
XM_017018199.1:c.4612-18G>A XP_016873688.1:n.4612-18G>A
XM_017018202.1:c.3112-18G>A XP_016873691.1:n.3112-18G>A
XM_017018204.1:c.2503-18G>A XP_016873693.1:n.2503-18G>A
XM_024448668.1:c.2914-18G>A XP_024304436.1:n.2914-18G>A
XR_001747945.2:n.4583-18G>A
XR_001747946.2:n.4514-18G>A
XR_002957189.1:n.6297-18G>A
NM_000352.6:c.4546-18G>A MANE Select NP_000343.2:n.4546-18G>A
NM_001287174.2:c.4549-18G>A NP_001274103.1:n.4549-18G>A
NM_001351295.2:c.4612-18G>A NP_001338224.1:n.4612-18G>A
NM_001351296.2:c.4546-18G>A NP_001338225.1:n.4546-18G>A
NM_001351297.2:c.4543-18G>A NP_001338226.1:n.4543-18G>A
NR_147094.2:n.4841-18G>A
NM_001287174.3:c.4549-18G>A NP_001274103.1:n.4549-18G>A
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