Canonical Allele Identifier: CA16041454
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 371255
ClinVar RCV Id: RCV000412284 RCV002252111 RCV002252112
dbSNP Id: rs1057517128
MyVariant Identifiers: chr11:g.17464723A>G (hg19) chr11:g.17443176A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17443176A>G , CM000673.2:g.17443176A>G GRCh38
NC_000011.9:g.17464723A>G , CM000673.1:g.17464723A>G GRCh37
NC_000011.8:g.17421299A>G NCBI36
NG_008867.1:g.38727T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.1104+2T>C
ENST00000526002.2:n.1482T>C
ENST00000528202.6:n.1533+2T>C
ENST00000642611.2:n.1533+2T>C
ENST00000682051.1:n.1480+2T>C
ENST00000682110.1:n.1533+2T>C
ENST00000682140.1:c.1464+2T>C ENSP00000507829.1:n.1464+2T>C
ENST00000682185.1:n.2772+2T>C
ENST00000682199.1:n.1533+2T>C
ENST00000682204.1:c.1464+2T>C ENSP00000507094.1:n.1464+2T>C
ENST00000682215.1:n.1533+2T>C
ENST00000682288.1:c.1464+2T>C ENSP00000507506.1:n.1464+2T>C
ENST00000682442.1:n.1569T>C
ENST00000682528.1:n.1533+2T>C
ENST00000682673.1:n.1480+2T>C
ENST00000682805.1:n.1533+2T>C
ENST00000682965.1:c.1464+2T>C ENSP00000508229.1:n.1464+2T>C
ENST00000683093.1:n.1533+2T>C
ENST00000683136.1:c.1464+2T>C ENSP00000507768.1:n.1464+2T>C
ENST00000683153.1:n.1533+2T>C
ENST00000683253.1:n.2447+2T>C
ENST00000683365.1:n.1533+2T>C
ENST00000683377.1:n.1533+2T>C
ENST00000683456.1:c.1464+2T>C ENSP00000508318.1:n.1464+2T>C
ENST00000683522.1:n.1533+2T>C
ENST00000683531.1:n.1536+2T>C
ENST00000683562.1:c.1467+2T>C ENSP00000508265.1:n.1467+2T>C
ENST00000683693.1:n.1533+2T>C
ENST00000683725.1:c.1467+2T>C ENSP00000507496.1:n.1467+2T>C
ENST00000684010.1:n.1533+2T>C
ENST00000684157.1:n.1533+2T>C
ENST00000684253.1:n.1585+2T>C
ENST00000684288.1:c.1467+2T>C ENSP00000507143.1:n.1467+2T>C
ENST00000684313.1:n.1560+2T>C
ENST00000684332.1:n.1533+2T>C
ENST00000684371.1:n.1480+2T>C
ENST00000684404.1:n.1533+2T>C
ENST00000684442.1:n.1533+2T>C
ENST00000684555.1:c.1467+2T>C ENSP00000507705.1:n.1467+2T>C
ENST00000684571.1:c.1308+2T>C ENSP00000506935.1:n.1308+2T>C
ENST00000684593.1:c.*1172+2T>C ENSP00000507005.1:n.*1172+2T>C
ENST00000684711.1:c.1464+2T>C ENSP00000506841.1:n.1464+2T>C
ENST00000302539.9:c.1467+2T>C ENSP00000303960.4:n.1467+2T>C
ENST00000389817.8:c.1467+2T>C MANE Select ENSP00000374467.4:n.1467+2T>C
ENST00000532728.6:c.1345T>C
ENST00000635881.1:n.1495+2T>C
ENST00000642271.1:c.1464+2T>C ENSP00000493749.1:n.1464+2T>C
ENST00000642611.1:n.1418+2T>C
ENST00000642902.1:c.1448+2T>C
ENST00000643260.1:c.1464+2T>C ENSP00000494450.1:n.1464+2T>C
ENST00000643562.1:c.1467+2T>C ENSP00000496124.1:n.1467+2T>C
ENST00000644472.1:c.1329+5340T>C ENSP00000495378.1:n.1329+5340T>C
ENST00000644484.1:c.1464+2T>C ENSP00000493558.1:n.1464+2T>C
ENST00000644542.1:c.*1169+2T>C ENSP00000495532.1:n.*1169+2T>C
ENST00000644649.1:c.637+2T>C
ENST00000644675.1:c.1464+2T>C ENSP00000494567.1:n.1464+2T>C
ENST00000644757.1:c.1467+2T>C ENSP00000495085.1:n.1467+2T>C
ENST00000644772.1:c.1467+2T>C ENSP00000494321.1:n.1467+2T>C
ENST00000645076.1:c.749+2T>C
ENST00000645744.1:c.1009-10932T>C ENSP00000494564.1:n.1009-10932T>C
ENST00000645760.1:c.1640+2T>C
ENST00000645884.1:c.1464+2T>C ENSP00000495516.1:n.1464+2T>C
ENST00000646003.1:c.1464+2T>C ENSP00000495259.1:n.1464+2T>C
ENST00000646207.1:c.1464+2T>C ENSP00000495025.1:n.1464+2T>C
ENST00000646276.1:c.1443+2T>C ENSP00000496070.1:n.1443+2T>C
ENST00000646592.1:c.718+2T>C
ENST00000646902.1:c.1464+2T>C ENSP00000494101.1:n.1464+2T>C
ENST00000646993.1:c.1467+2T>C ENSP00000493720.1:n.1467+2T>C
ENST00000647013.1:c.1365+2T>C ENSP00000496741.1:n.1365+2T>C
ENST00000647015.1:c.1467+2T>C ENSP00000495389.1:n.1467+2T>C
ENST00000647086.1:c.1464+2T>C ENSP00000493677.1:n.1464+2T>C
ENST00000647158.1:c.1464+2T>C ENSP00000495744.1:n.1464+2T>C
ENST00000302539.8:c.1467+2T>C ENSP00000303960.4:n.1467+2T>C
ENST00000389817.7:c.1467+2T>C ENSP00000374467.3:n.1467+2T>C
ENST00000526002.1:n.256+2T>C
ENST00000527905.5:c.1467+2T>C ENSP00000431653.1:n.1467+2T>C
ENST00000532728.5:n.1498+2T>C
NM_000352.4:c.1467+2T>C NP_000343.2:n.1467+2T>C
NM_001287174.1:c.1467+2T>C NP_001274103.1:n.1467+2T>C
XM_011520331.1:c.1464+2T>C XP_011518633.1:n.1464+2T>C
XM_011520332.1:c.1467+2T>C XP_011518634.1:n.1467+2T>C
XM_011520333.1:c.-49T>C XP_011518635.1:n.-49T>C
XM_011520334.1:c.1467+2T>C XP_011518636.1:n.1467+2T>C
XR_930890.1:n.1530+2T>C
XR_930891.1:n.1530+2T>C
XR_930892.1:n.1530+2T>C
XR_930893.1:n.1530+2T>C
NM_001351295.1:c.1467+2T>C NP_001338224.1:n.1467+2T>C
NM_001351296.1:c.1464+2T>C NP_001338225.1:n.1464+2T>C
NM_001351297.1:c.1464+2T>C NP_001338226.1:n.1464+2T>C
NR_147094.1:n.1533+2T>C
XM_017018197.2:c.1467+2T>C XP_016873686.1:n.1467+2T>C
XM_017018199.1:c.1464+2T>C XP_016873688.1:n.1464+2T>C
XM_017018201.2:c.1467+2T>C XP_016873690.1:n.1467+2T>C
XM_017018202.1:c.-49T>C XP_016873691.1:n.-49T>C
XM_017018204.1:c.-650+2T>C XP_016873693.1:n.-650+2T>C
XM_024448668.1:c.-271+2T>C XP_024304436.1:n.-271+2T>C
XR_001747945.2:n.1539+2T>C
XR_001747946.2:n.1539+2T>C
XR_002957189.1:n.1539+2T>C
NM_000352.6:c.1467+2T>C MANE Select NP_000343.2:n.1467+2T>C
NM_001287174.2:c.1467+2T>C NP_001274103.1:n.1467+2T>C
NM_001351295.2:c.1467+2T>C NP_001338224.1:n.1467+2T>C
NM_001351296.2:c.1464+2T>C NP_001338225.1:n.1464+2T>C
NM_001351297.2:c.1464+2T>C NP_001338226.1:n.1464+2T>C
NR_147094.2:n.1533+2T>C
NM_001287174.3:c.1467+2T>C NP_001274103.1:n.1467+2T>C
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