Canonical Allele Identifier: CA120114
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9106
dbSNP Id: rs137852674

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17430887G>C , CM000673.2:g.17430887G>C GRCh38
NC_000011.9:g.17452434G>C , CM000673.1:g.17452434G>C GRCh37
NC_000011.8:g.17409010G>C NCBI36
NG_008867.1:g.51016C>G

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.1744C>G VV NP_000343.2:p.Leu582Val
NM_001287174.1:c.1744C>G VV NP_001274103.1:p.Leu582Val
XM_011520331.1:c.1741C>G XP_011518633.1:p.Leu581Val
XM_011520332.1:c.1744C>G XP_011518634.1:p.Leu582Val
XM_011520333.1:c.241C>G XP_011518635.1:p.Leu81Val
XM_011520334.1:c.1744C>G XP_011518636.1:p.Leu582Val
XR_930890.1:n.1807C>G
XR_930891.1:n.1807C>G
XR_930892.1:n.1807C>G
XR_930893.1:n.1807C>G
NM_001351295.1:c.1744C>G VV NP_001338224.1:p.Leu582Val
NM_001351296.1:c.1741C>G VV NP_001338225.1:p.Leu581Val
NM_001351297.1:c.1741C>G VV NP_001338226.1:p.Leu581Val
NR_147094.1:n.1810C>G
XM_017018197.2:c.1744C>G XP_016873686.1:p.Leu582Val
XM_017018199.1:c.1741C>G XP_016873688.1:p.Leu581Val
XM_017018201.2:c.1744C>G XP_016873690.1:p.Leu582Val
XM_017018202.1:c.241C>G XP_016873691.1:p.Leu81Val
XM_017018204.1:c.-300C>G XP_016873693.1:p.=
XM_024448668.1:c.109C>G XP_024304436.1:p.Leu37Val
XR_001747945.2:n.1816C>G
XR_001747946.2:n.1816C>G
XR_002957189.1:n.1816C>G
ENST00000302539.8:c.1744C>G ENSP00000303960.4:p.Leu582Val
ENST00000389817.7:c.1744C>G ENSP00000374467.3:p.Leu582Val
ENST00000526002.1:n.533C>G
ENST00000527905.5:c.1744C>G ENSP00000431653.1:p.Leu582Val
ENST00000528202.5:n.259C>G
ENST00000532728.5:n.1775C>G