Canonical Allele Identifier: CA16041445
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370556
ClinVar RCV Id: RCV000411424
dbSNP Id: rs1057516585

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406942C>T , CM000673.2:g.17406942C>T GRCh38
NC_000011.9:g.17428489C>T , CM000673.1:g.17428489C>T GRCh37
NC_000011.8:g.17385065C>T NCBI36
NG_008867.1:g.74961G>A

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.3108G>A VV NP_000343.2:p.Trp1036Ter
NM_001287174.1:c.3111G>A VV NP_001274103.1:p.Trp1037Ter
XM_011520331.1:c.3108G>A XP_011518633.1:p.Trp1036Ter
XM_011520332.1:c.3111G>A XP_011518634.1:p.Trp1037Ter
XM_011520333.1:c.1608G>A XP_011518635.1:p.Trp536Ter
XR_930890.1:n.3174G>A
XR_930891.1:n.3174G>A
XR_930892.1:n.3074G>A
XR_930893.1:n.3071G>A
NM_001351295.1:c.3174G>A VV NP_001338224.1:p.Trp1058Ter
NM_001351296.1:c.3108G>A VV NP_001338225.1:p.Trp1036Ter
NM_001351297.1:c.3105G>A VV NP_001338226.1:p.Trp1035Ter
NR_147094.1:n.3257G>A
XM_017018197.2:c.3177G>A XP_016873686.1:p.Trp1059Ter
XM_017018199.1:c.3174G>A XP_016873688.1:p.Trp1058Ter
XM_017018201.2:c.3177G>A XP_016873690.1:p.Trp1059Ter
XM_017018202.1:c.1674G>A XP_016873691.1:p.Trp558Ter
XM_017018204.1:c.1065G>A XP_016873693.1:p.Trp355Ter
XM_024448668.1:c.1476G>A XP_024304436.1:p.Trp492Ter
XR_001747945.2:n.3249G>A
XR_001747946.2:n.3180G>A
XR_002957189.1:n.3329G>A
ENST00000302539.8:c.3111G>A ENSP00000303960.4:p.Trp1037Ter
ENST00000389817.7:c.3108G>A ENSP00000374467.3:p.Trp1036Ter
ENST00000524561.1:n.240G>A
ENST00000526921.5:n.792G>A
ENST00000527905.5:c.2978G>A ENSP00000431653.1:p.Gly993Glu
ENST00000529967.5:n.777G>A