Canonical Allele Identifier: CA16041448
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 370562
ClinVar RCV Id: RCV000411947 RCV001210957 RCV002251470 RCV002251471
dbSNP Id: rs1057516589
gnomAD v4: 11-17416928-A-G
MyVariant Identifiers: chr11:g.17438475A>G (hg19) chr11:g.17416928A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17416928A>G , CM000673.2:g.17416928A>G GRCh38
NC_000011.9:g.17438475A>G , CM000673.1:g.17438475A>G GRCh37
NC_000011.8:g.17395051A>G NCBI36
NG_008867.1:g.64975T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.1924+2T>C
ENST00000529967.6:n.514+2T>C
ENST00000642611.2:n.2324+2T>C
ENST00000682051.1:n.2271+2T>C
ENST00000682110.1:n.2324+2T>C
ENST00000682140.1:c.2252+2T>C ENSP00000507829.1:n.2252+2T>C
ENST00000682185.1:n.3560+2T>C
ENST00000682204.1:c.*393+2T>C ENSP00000507094.1:n.*393+2T>C
ENST00000682215.1:n.2321+2T>C
ENST00000682288.1:c.*686+2T>C ENSP00000507506.1:n.*686+2T>C
ENST00000682442.1:n.2445+2T>C
ENST00000682528.1:n.2321+2T>C
ENST00000682673.1:n.2268+2T>C
ENST00000682805.1:n.2321+2T>C
ENST00000682965.1:c.2252+2T>C ENSP00000508229.1:n.2252+2T>C
ENST00000683093.1:n.2423+2T>C
ENST00000683136.1:c.2252+2T>C ENSP00000507768.1:n.2252+2T>C
ENST00000683153.1:n.2480+2T>C
ENST00000683365.1:n.2426+2T>C
ENST00000683377.1:n.2324+2T>C
ENST00000683456.1:c.2255+2T>C ENSP00000508318.1:n.2255+2T>C
ENST00000683522.1:n.2324+2T>C
ENST00000683562.1:c.*424+2T>C ENSP00000508265.1:n.*424+2T>C
ENST00000683693.1:n.2321+2T>C
ENST00000683725.1:c.2255+2T>C ENSP00000507496.1:n.2255+2T>C
ENST00000684010.1:n.2324+2T>C
ENST00000684157.1:n.2324+2T>C
ENST00000684253.1:n.2227+2T>C
ENST00000684288.1:c.*427+2T>C ENSP00000507143.1:n.*427+2T>C
ENST00000684313.1:n.1756+2T>C
ENST00000684332.1:n.2397+2T>C
ENST00000684371.1:n.2430+2T>C
ENST00000684404.1:n.2321+2T>C
ENST00000684442.1:n.2324+2T>C
ENST00000684555.1:c.*467+2T>C ENSP00000507705.1:n.*467+2T>C
ENST00000684571.1:c.2096+2T>C ENSP00000506935.1:n.2096+2T>C
ENST00000684593.1:c.*1960+2T>C ENSP00000507005.1:n.*1960+2T>C
ENST00000684711.1:c.*651+2T>C ENSP00000506841.1:n.*651+2T>C
ENST00000302539.9:c.2258+2T>C ENSP00000303960.4:n.2258+2T>C
ENST00000389817.8:c.2255+2T>C MANE Select ENSP00000374467.4:n.2255+2T>C
ENST00000642271.1:c.2252+2T>C ENSP00000493749.1:n.2252+2T>C
ENST00000642579.1:c.339+2T>C
ENST00000642611.1:n.2209+2T>C
ENST00000642902.1:c.2090+2T>C
ENST00000643260.1:c.2255+2T>C ENSP00000494450.1:n.2255+2T>C
ENST00000643562.1:c.*231+2T>C ENSP00000496124.1:n.*231+2T>C
ENST00000643925.1:c.195+2T>C
ENST00000644447.1:c.611+2T>C ENSP00000496282.1:n.611+2T>C
ENST00000644472.1:c.*616+2T>C ENSP00000495378.1:n.*616+2T>C
ENST00000644484.1:c.*464+2T>C ENSP00000493558.1:n.*464+2T>C
ENST00000644542.1:c.*1960+2T>C ENSP00000495532.1:n.*1960+2T>C
ENST00000644675.1:c.*427+2T>C ENSP00000494567.1:n.*427+2T>C
ENST00000644757.1:c.*560+2T>C ENSP00000495085.1:n.*560+2T>C
ENST00000644772.1:c.2321+2T>C ENSP00000494321.1:n.2321+2T>C
ENST00000645076.1:c.1507+2T>C
ENST00000645744.1:c.*619+2T>C ENSP00000494564.1:n.*619+2T>C
ENST00000645760.1:c.2530+2T>C
ENST00000645884.1:c.2255+2T>C ENSP00000495516.1:n.2255+2T>C
ENST00000646003.1:c.*396+2T>C ENSP00000495259.1:n.*396+2T>C
ENST00000646207.1:c.*619+2T>C ENSP00000495025.1:n.*619+2T>C
ENST00000646276.1:c.*528+2T>C ENSP00000496070.1:n.*528+2T>C
ENST00000646592.1:c.1481+2T>C
ENST00000646902.1:c.2252+2T>C ENSP00000494101.1:n.2252+2T>C
ENST00000646993.1:c.*651+2T>C ENSP00000493720.1:n.*651+2T>C
ENST00000647013.1:c.2261+2T>C ENSP00000496741.1:n.2261+2T>C
ENST00000647015.1:c.2006+2T>C ENSP00000495389.1:n.2006+2T>C
ENST00000647086.1:c.*1985+2T>C ENSP00000493677.1:n.*1985+2T>C
ENST00000647158.1:c.*396+2T>C ENSP00000495744.1:n.*396+2T>C
ENST00000302539.8:c.2258+2T>C ENSP00000303960.4:n.2258+2T>C
ENST00000389817.7:c.2255+2T>C ENSP00000374467.3:n.2255+2T>C
ENST00000527905.5:c.2225+2T>C ENSP00000431653.1:n.2225+2T>C
ENST00000531911.1:n.369+2T>C
NM_000352.4:c.2255+2T>C NP_000343.2:n.2255+2T>C
NM_001287174.1:c.2258+2T>C NP_001274103.1:n.2258+2T>C
XM_011520331.1:c.2255+2T>C XP_011518633.1:n.2255+2T>C
XM_011520332.1:c.2258+2T>C XP_011518634.1:n.2258+2T>C
XM_011520333.1:c.755+2T>C XP_011518635.1:n.755+2T>C
XM_011520334.1:c.2258+2T>C XP_011518636.1:n.2258+2T>C
XR_930890.1:n.2321+2T>C
XR_930891.1:n.2321+2T>C
XR_930892.1:n.2321+2T>C
XR_930893.1:n.2318+2T>C
NM_001351295.1:c.2321+2T>C NP_001338224.1:n.2321+2T>C
NM_001351296.1:c.2255+2T>C NP_001338225.1:n.2255+2T>C
NM_001351297.1:c.2252+2T>C NP_001338226.1:n.2252+2T>C
NR_147094.1:n.2324+2T>C
XM_017018197.2:c.2324+2T>C XP_016873686.1:n.2324+2T>C
XM_017018199.1:c.2321+2T>C XP_016873688.1:n.2321+2T>C
XM_017018201.2:c.2324+2T>C XP_016873690.1:n.2324+2T>C
XM_017018202.1:c.821+2T>C XP_016873691.1:n.821+2T>C
XM_017018204.1:c.212+2T>C XP_016873693.1:n.212+2T>C
XM_024448668.1:c.623+2T>C XP_024304436.1:n.623+2T>C
XR_001747945.2:n.2396+2T>C
XR_001747946.2:n.2327+2T>C
XR_002957189.1:n.2396+2T>C
NM_000352.6:c.2255+2T>C MANE Select NP_000343.2:n.2255+2T>C
NM_001287174.2:c.2258+2T>C NP_001274103.1:n.2258+2T>C
NM_001351295.2:c.2321+2T>C NP_001338224.1:n.2321+2T>C
NM_001351296.2:c.2255+2T>C NP_001338225.1:n.2255+2T>C
NM_001351297.2:c.2252+2T>C NP_001338226.1:n.2252+2T>C
NR_147094.2:n.2324+2T>C
NM_001287174.3:c.2258+2T>C NP_001274103.1:n.2258+2T>C
Search 100 bp 5'
Search 100 bp 3'