Canonical Allele Identifier: CA1100883402
Gene: IGFBP3 HGNC NCBI

Linked Data

gnomAD v3: 7-45913675-C-G
gnomAD v4: 7-45913675-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45913675C>G , CM000669.2:g.45913675C>G GRCh38
NC_000007.13:g.45953274C>G , CM000669.1:g.45953274C>G GRCh37
NC_000007.12:g.45919799C>G NCBI36
NG_011508.1:g.12598G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000613132.5:c.*175G>C MANE Select ENSP00000477772.2:n.*175G>C
ENST00000381083.9:c.*175G>C ENSP00000370473.4:n.*175G>C
ENST00000275521.10:c.*175G>C ENSP00000275521.5:n.*175G>C
ENST00000381086.9:c.*175G>C ENSP00000370476.4:n.*175G>C
ENST00000613132.4:c.988G>C ENSP00000477772.1:n.988G>C
NM_000598.4:c.*175G>C NP_000589.2:n.*175G>C
NM_001013398.1:c.*175G>C NP_001013416.1:n.*175G>C
NM_001013398.2:c.*175G>C NP_001013416.1:n.*175G>C
NM_000598.5:c.*175G>C MANE Select NP_000589.2:n.*175G>C