Canonical Allele Identifier: CA29692607
Gene: CD58 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.116558335A>G
GRCh37 chr1:g.117100957A>G
gnomAD v2:
1:117100957 A / G
gnomAD v3:
1:116558335 A / G
gnomAD v4:
chr1-116558335-A-G
Joint Max Group AF 0.58416328 (EAS)
Genomes Max Group AF 0.58416328 (EAS)
ClinVar RCV:
RCV001677376
ClinVar Variation:
1267351
dbSNP:
1335532
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116558335A>G , CM000663.2:g.116558335A>G GRCh38
NC_000001.10:g.117100957A>G , CM000663.1:g.117100957A>G GRCh37
NC_000001.9:g.116902480A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369489.10:c.70+12568T>C MANE Select ENSP00000358501.5:n.70+12568T>C
ENST00000369487.3:c.70+12568T>C ENSP00000358499.3:n.70+12568T>C
ENST00000369489.9:c.70+12568T>C ENSP00000358501.5:n.70+12568T>C
ENST00000457047.6:c.70+12568T>C ENSP00000409080.2:n.70+12568T>C
ENST00000464088.5:c.70+12568T>C ENSP00000432773.1:n.70+12568T>C
NM_001144822.1:c.70+12568T>C NP_001138294.1:n.70+12568T>C
NM_001779.2:c.70+12568T>C NP_001770.1:n.70+12568T>C
NR_026665.1:n.191+12568T>C
XM_017002869.2:c.70+12568T>C XP_016858358.1:n.70+12568T>C
NM_001779.3:c.70+12568T>C MANE Select NP_001770.1:n.70+12568T>C
NR_026665.2:n.124+12568T>C
NM_001144822.2:c.70+12568T>C NP_001138294.1:n.70+12568T>C
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