Canonical Allele Identifier: CA16041454
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371255
ClinVar RCV Id: RCV000412284
dbSNP Id: rs1057517128

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
NM_000352.4:c.1467+2T>C VV NP_000343.2:p.=
NM_001287174.1:c.1467+2T>C VV NP_001274103.1:p.=
XM_011520331.1:c.1464+2T>C XP_011518633.1:p.=
XM_011520332.1:c.1467+2T>C XP_011518634.1:p.=
XM_011520333.1:c.-49T>C XP_011518635.1:p.=
XM_011520334.1:c.1467+2T>C XP_011518636.1:p.=
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 VV NP_001338224.1:p.=
NM_001351296.1:c.1464+2T>C VV NP_001338225.1:p.=
NM_001351297.1:c.1464+2T>C VV NP_001338226.1:p.=
NR_147094.1:n.1533+2T>C
XM_017018197.2:c.1467+2T>C XP_016873686.1:p.=
XM_017018199.1:c.1464+2T>C XP_016873688.1:p.=
XM_017018201.2:c.1467+2T>C XP_016873690.1:p.=
XM_017018202.1:c.-49T>C XP_016873691.1:p.=
XM_017018204.1:c.-650+2T>C XP_016873693.1:p.=
XM_024448668.1:c.-271+2T>C XP_024304436.1:p.=
XR_001747945.2:n.1539+2T>C
XR_001747946.2:n.1539+2T>C
XR_002957189.1:n.1539+2T>C
ENST00000302539.8:c.1467+2T>C ENSP00000303960.4:p.=
ENST00000389817.7:c.1467+2T>C ENSP00000374467.3:p.=
ENST00000526002.1:n.256+2T>C
ENST00000527905.5:c.1467+2T>C ENSP00000431653.1:p.=
ENST00000532728.5:n.1498+2T>C