Canonical Allele Identifier: CA254635
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9099
dbSNP Id: rs137852672

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17463457A>T , CM000673.2:g.17463457A>T GRCh38
NC_000011.9:g.17485004A>T , CM000673.1:g.17485004A>T GRCh37
NC_000011.8:g.17441580A>T NCBI36
NG_008867.1:g.18446T>A

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.560T>A VV NP_000343.2:p.Val187Asp
NM_001287174.1:c.560T>A VV NP_001274103.1:p.Val187Asp
XM_011520331.1:c.560T>A XP_011518633.1:p.Val187Asp
XM_011520332.1:c.560T>A XP_011518634.1:p.Val187Asp
XM_011520334.1:c.560T>A XP_011518636.1:p.Val187Asp
XR_930890.1:n.623T>A
XR_930891.1:n.623T>A
XR_930892.1:n.623T>A
XR_930893.1:n.623T>A
NM_001351295.1:c.560T>A VV NP_001338224.1:p.Val187Asp
NM_001351296.1:c.560T>A VV NP_001338225.1:p.Val187Asp
NM_001351297.1:c.560T>A VV NP_001338226.1:p.Val187Asp
NR_147094.1:n.629T>A
XM_017018197.2:c.560T>A XP_016873686.1:p.Val187Asp
XM_017018199.1:c.560T>A XP_016873688.1:p.Val187Asp
XM_017018201.2:c.560T>A XP_016873690.1:p.Val187Asp
XM_017018202.1:c.-958T>A XP_016873691.1:p.=
XM_024448668.1:c.-2084T>A XP_024304436.1:p.=
XR_001747945.2:n.632T>A
XR_001747946.2:n.632T>A
XR_002957189.1:n.632T>A
ENST00000302539.8:c.560T>A ENSP00000303960.4:p.Val187Asp
ENST00000389817.7:c.560T>A ENSP00000374467.3:p.Val187Asp
ENST00000527905.5:c.560T>A ENSP00000431653.1:p.Val187Asp
ENST00000532728.5:n.591T>A