Canonical Allele Identifier: CA16041457
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371346
ClinVar RCV Id: RCV000410704
dbSNP Id: rs1057517199

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17461821dup , CM000673.2:g.17461821dup GRCh38
NC_000011.9:g.17483368dup , CM000673.1:g.17483368dup GRCh37
NC_000011.8:g.17439944dup NCBI36
NG_008867.1:g.20082dup

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.584dup VV
NM_001287174.1:c.584dup VV
XM_011520331.1:c.584dup
XM_011520332.1:c.584dup
XM_011520334.1:c.584dup
XR_930890.1:n.647dup
XR_930891.1:n.647dup
XR_930892.1:n.647dup
XR_930893.1:n.647dup
NM_001351295.1:c.584dup VV
NM_001351296.1:c.584dup VV
NM_001351297.1:c.584dup VV
NR_147094.1:n.653dup
XM_017018197.2:c.584dup
XM_017018199.1:c.584dup
XM_017018201.2:c.584dup
XM_017018202.1:c.-934dup XP_016873691.1:p.=
XM_024448668.1:c.-2060dup XP_024304436.1:p.=
XR_001747945.2:n.656dup
XR_001747946.2:n.656dup
XR_002957189.1:n.656dup
ENST00000302539.8:c.584dup
ENST00000389817.7:c.584dup
ENST00000527905.5:c.584dup
ENST00000532728.5:n.615dup