Canonical Allele Identifier: CA260107
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35620
ClinVar RCV Id: RCV000029267
dbSNP Id: rs193922405

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394360C>T , CM000673.2:g.17394360C>T GRCh38
NC_000011.9:g.17415907C>T , CM000673.1:g.17415907C>T GRCh37
NC_000011.8:g.17372483C>T NCBI36
NG_008867.1:g.87543G>A

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.4451G>A VV NP_000343.2:p.Gly1484Glu
NM_001287174.1:c.4454G>A VV NP_001274103.1:p.Gly1485Glu
XM_011520331.1:c.4451G>A XP_011518633.1:p.Gly1484Glu
XM_011520332.1:c.4350G>A XP_011518634.1:p.Gly1450=
XM_011520333.1:c.2951G>A XP_011518635.1:p.Gly984Glu
XR_930890.1:n.4413G>A
NM_001351295.1:c.4517G>A VV NP_001338224.1:p.Gly1506Glu
NM_001351296.1:c.4451G>A VV NP_001338225.1:p.Gly1484Glu
NM_001351297.1:c.4448G>A VV NP_001338226.1:p.Gly1483Glu
NR_147094.1:n.4746G>A
XM_017018197.2:c.4520G>A XP_016873686.1:p.Gly1507Glu
XM_017018199.1:c.4517G>A XP_016873688.1:p.Gly1506Glu
XM_017018201.2:c.4416G>A XP_016873690.1:p.Gly1472=
XM_017018202.1:c.3017G>A XP_016873691.1:p.Gly1006Glu
XM_017018204.1:c.2408G>A XP_016873693.1:p.Gly803Glu
XM_024448668.1:c.2819G>A XP_024304436.1:p.Gly940Glu
XR_001747945.2:n.4488G>A
XR_001747946.2:n.4419G>A
XR_002957189.1:n.6202G>A
ENST00000302539.8:c.4454G>A ENSP00000303960.4:p.Gly1485Glu
ENST00000389817.7:c.4451G>A ENSP00000374467.3:p.Gly1484Glu
ENST00000525022.1:n.346G>A
ENST00000526037.5:n.211G>A
ENST00000526168.5:n.239G>A
ENST00000531642.5:n.482G>A