Canonical Allele Identifier: CA16041448
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370562
ClinVar RCV Id: RCV000411947
dbSNP Id: rs1057516589

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
NM_000352.4:c.2255+2T>C VV NP_000343.2:p.=
NM_001287174.1:c.2258+2T>C VV NP_001274103.1:p.=
XM_011520331.1:c.2255+2T>C XP_011518633.1:p.=
XM_011520332.1:c.2258+2T>C XP_011518634.1:p.=
XM_011520333.1:c.755+2T>C XP_011518635.1:p.=
XM_011520334.1:c.2258+2T>C XP_011518636.1:p.=
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 VV NP_001338224.1:p.=
NM_001351296.1:c.2255+2T>C VV NP_001338225.1:p.=
NM_001351297.1:c.2252+2T>C VV NP_001338226.1:p.=
NR_147094.1:n.2324+2T>C
XM_017018197.2:c.2324+2T>C XP_016873686.1:p.=
XM_017018199.1:c.2321+2T>C XP_016873688.1:p.=
XM_017018201.2:c.2324+2T>C XP_016873690.1:p.=
XM_017018202.1:c.821+2T>C XP_016873691.1:p.=
XM_017018204.1:c.212+2T>C XP_016873693.1:p.=
XM_024448668.1:c.623+2T>C XP_024304436.1:p.=
XR_001747945.2:n.2396+2T>C
XR_001747946.2:n.2327+2T>C
XR_002957189.1:n.2396+2T>C
ENST00000302539.8:c.2258+2T>C ENSP00000303960.4:p.=
ENST00000389817.7:c.2255+2T>C ENSP00000374467.3:p.=
ENST00000527905.5:c.2225+2T>C ENSP00000431653.1:p.=
ENST00000531911.1:n.369+2T>C