Canonical Allele Identifier: CA213464
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35621
ClinVar RCV Id: RCV000029268
dbSNP Id: rs193922406

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393752A>C , CM000673.2:g.17393752A>C GRCh38
NC_000011.9:g.17415299A>C , CM000673.1:g.17415299A>C GRCh37
NC_000011.8:g.17371875A>C NCBI36
NG_008867.1:g.88151T>G

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.4553T>G VV NP_000343.2:p.Ile1518Ser
NM_001287174.1:c.4556T>G VV NP_001274103.1:p.Ile1519Ser
XM_011520331.1:c.4553T>G XP_011518633.1:p.Ile1518Ser
XM_011520333.1:c.3053T>G XP_011518635.1:p.Ile1018Ser
XR_930890.1:n.4515T>G
NM_001351295.1:c.4619T>G VV NP_001338224.1:p.Ile1540Ser
NM_001351296.1:c.4553T>G VV NP_001338225.1:p.Ile1518Ser
NM_001351297.1:c.4550T>G VV NP_001338226.1:p.Ile1517Ser
NR_147094.1:n.4848T>G
XM_017018197.2:c.4622T>G XP_016873686.1:p.Ile1541Ser
XM_017018199.1:c.4619T>G XP_016873688.1:p.Ile1540Ser
XM_017018202.1:c.3119T>G XP_016873691.1:p.Ile1040Ser
XM_017018204.1:c.2510T>G XP_016873693.1:p.Ile837Ser
XM_024448668.1:c.2921T>G XP_024304436.1:p.Ile974Ser
XR_001747945.2:n.4590T>G
XR_001747946.2:n.4521T>G
XR_002957189.1:n.6304T>G
ENST00000302539.8:c.4556T>G ENSP00000303960.4:p.Ile1519Ser
ENST00000389817.7:c.4553T>G ENSP00000374467.3:p.Ile1518Ser
ENST00000525022.1:n.448T>G
ENST00000526037.5:n.313T>G
ENST00000526168.5:n.341T>G
ENST00000531642.5:n.584T>G