Canonical Allele Identifier: CA340868
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 9104
dbSNP Id: rs80356653

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395647T>C , CM000673.2:g.17395647T>C GRCh38
NC_000011.9:g.17417194T>C , CM000673.1:g.17417194T>C GRCh37
NC_000011.8:g.17373770T>C NCBI36
NG_008867.1:g.86256A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3871A>G
ENST00000528374.2:c.861A>G
ENST00000529967.6:n.2609A>G
ENST00000532220.2:n.3503A>G
ENST00000642611.2:n.5603A>G
ENST00000644057.2:n.846A>G
ENST00000645004.2:n.1769A>G
ENST00000682051.1:n.4432A>G
ENST00000682110.1:n.4485A>G
ENST00000682140.1:c.*56A>G ENSP00000507829.1:n.*56A>G
ENST00000682185.1:n.5575A>G
ENST00000682204.1:c.*2408A>G ENSP00000507094.1:n.*2408A>G
ENST00000682215.1:n.4852A>G
ENST00000682288.1:c.*2701A>G ENSP00000507506.1:n.*2701A>G
ENST00000682442.1:n.4705A>G
ENST00000682528.1:n.4562A>G
ENST00000682673.1:n.4429A>G
ENST00000682805.1:n.4890A>G
ENST00000682965.1:c.*692A>G ENSP00000508229.1:n.*692A>G
ENST00000683093.1:n.5569A>G
ENST00000683136.1:c.4153A>G ENSP00000507768.1:p.Ile1385Val
ENST00000683153.1:n.4527A>G
ENST00000683365.1:n.4587A>G
ENST00000683377.1:n.4485A>G
ENST00000683456.1:c.*1407A>G ENSP00000508318.1:n.*1407A>G
ENST00000683522.1:n.4485A>G
ENST00000683562.1:c.*2439A>G ENSP00000508265.1:n.*2439A>G
ENST00000683693.1:n.6050A>G
ENST00000683725.1:c.4270A>G ENSP00000507496.1:p.Ile1424Val
ENST00000684010.1:n.4480A>G
ENST00000684157.1:n.5470A>G
ENST00000684253.1:n.4388A>G
ENST00000684288.1:c.*2442A>G ENSP00000507143.1:n.*2442A>G
ENST00000684313.1:n.3917A>G
ENST00000684332.1:n.4558A>G
ENST00000684371.1:n.4591A>G
ENST00000684404.1:n.5513A>G
ENST00000684442.1:n.4709A>G
ENST00000684555.1:c.*2482A>G ENSP00000507705.1:n.*2482A>G
ENST00000684571.1:c.4111A>G ENSP00000506935.1:p.Ile1371Val
ENST00000684593.1:c.*3975A>G ENSP00000507005.1:n.*3975A>G
ENST00000684711.1:c.*2666A>G ENSP00000506841.1:n.*2666A>G
ENST00000302539.9:c.4273A>G ENSP00000303960.4:p.Ile1425Val
ENST00000389817.8:c.4270A>G MANE Select ENSP00000374467.4:p.Ile1424Val
ENST00000642271.1:c.4267A>G ENSP00000493749.1:p.Ile1423Val
ENST00000642579.1:c.2324A>G
ENST00000642611.1:n.5488A>G
ENST00000642902.1:c.4052A>G
ENST00000643260.1:c.4270A>G ENSP00000494450.1:p.Ile1424Val
ENST00000643562.1:c.*2392A>G ENSP00000496124.1:n.*2392A>G
ENST00000643925.1:c.2910A>G
ENST00000644057.1:n.347A>G
ENST00000644484.1:c.*3656A>G ENSP00000493558.1:n.*3656A>G
ENST00000644675.1:c.*2442A>G ENSP00000494567.1:n.*2442A>G
ENST00000644757.1:c.*3202+617A>G ENSP00000495085.1:n.*3202+617A>G
ENST00000644772.1:c.4336A>G ENSP00000494321.1:p.Ile1446Val
ENST00000645004.1:n.1963A>G
ENST00000645076.1:c.3469A>G
ENST00000645417.1:c.1458A>G
ENST00000645744.1:c.*3964-9A>G ENSP00000494564.1:n.*3964-9A>G
ENST00000645760.1:c.4691A>G
ENST00000645884.1:c.*1553A>G ENSP00000495516.1:n.*1553A>G
ENST00000646003.1:c.*2301-9A>G ENSP00000495259.1:n.*2301-9A>G
ENST00000646207.1:c.*3107A>G ENSP00000495025.1:n.*3107A>G
ENST00000646276.1:c.*3674A>G ENSP00000496070.1:n.*3674A>G
ENST00000646592.1:c.3576A>G
ENST00000646902.1:c.4237A>G ENSP00000494101.1:p.Ile1413Val
ENST00000646993.1:c.*2812A>G ENSP00000493720.1:n.*2812A>G
ENST00000647013.1:c.4276A>G ENSP00000496741.1:n.4276A>G
ENST00000647015.1:c.4021A>G ENSP00000495389.1:p.Ile1341Val
ENST00000647086.1:c.*3856A>G ENSP00000493677.1:n.*3856A>G
ENST00000647158.1:c.*2557A>G ENSP00000495744.1:n.*2557A>G
ENST00000302539.8:c.4273A>G ENSP00000303960.4:p.Ile1425Val
ENST00000389817.7:c.4270A>G ENSP00000374467.3:p.Ile1424Val
ENST00000525022.1:n.269A>G
ENST00000526037.5:n.134A>G
ENST00000526168.5:c.67-9A>G
ENST00000531642.5:c.106A>G
NM_000352.4:c.4270A>G NP_000343.2:p.Ile1424Val
NM_001287174.1:c.4273A>G NP_001274103.1:p.Ile1425Val
XM_011520331.1:c.4270A>G XP_011518633.1:p.Ile1424Val
XM_011520332.1:c.4273A>G XP_011518634.1:p.Ile1425Val
XM_011520333.1:c.2770A>G XP_011518635.1:p.Ile924Val
XR_930890.1:n.4336A>G
NM_001351295.1:c.4336A>G NP_001338224.1:p.Ile1446Val
NM_001351296.1:c.4270A>G NP_001338225.1:p.Ile1424Val
NM_001351297.1:c.4267A>G NP_001338226.1:p.Ile1423Val
NR_147094.1:n.4565A>G
XM_017018197.2:c.4339A>G XP_016873686.1:p.Ile1447Val
XM_017018199.1:c.4336A>G XP_016873688.1:p.Ile1446Val
XM_017018201.2:c.4339A>G XP_016873690.1:p.Ile1447Val
XM_017018202.1:c.2836A>G XP_016873691.1:p.Ile946Val
XM_017018204.1:c.2227A>G XP_016873693.1:p.Ile743Val
XM_024448668.1:c.2638A>G XP_024304436.1:p.Ile880Val
XR_001747945.2:n.4411A>G
XR_001747946.2:n.4342A>G
XR_002957189.1:n.6125A>G
NM_000352.6:c.4270A>G MANE Select NP_000343.2:p.Ile1424Val
NM_001287174.2:c.4273A>G NP_001274103.1:p.Ile1425Val
NM_001351295.2:c.4336A>G NP_001338224.1:p.Ile1446Val
NM_001351296.2:c.4270A>G NP_001338225.1:p.Ile1424Val
NM_001351297.2:c.4267A>G NP_001338226.1:p.Ile1423Val
NR_147094.2:n.4565A>G
NM_001287174.3:c.4273A>G NP_001274103.1:p.Ile1425Val