Canonical Allele Identifier: CA158025131
Gene: IGFBP3 HGNC NCBI

Linked Data

dbSNP Id: rs567252358
gnomAD v3: 7-45913992-C-T
gnomAD v4: 7-45913992-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45913992C>T , CM000669.2:g.45913992C>T GRCh38
NC_000007.13:g.45953591C>T , CM000669.1:g.45953591C>T GRCh37
NC_000007.12:g.45920116C>T NCBI36
NG_011508.1:g.12281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000613132.5:c.*16-158G>A MANE Select ENSP00000477772.2:n.*16-158G>A
ENST00000381083.9:c.*16-158G>A ENSP00000370473.4:n.*16-158G>A
ENST00000275521.10:c.*16-158G>A ENSP00000275521.5:n.*16-158G>A
ENST00000381083.8:c.*16-158G>A ENSP00000370473.4:n.*16-158G>A
ENST00000381086.9:c.*16-158G>A ENSP00000370476.4:n.*16-158G>A
ENST00000460209.1:n.522-158G>A
ENST00000613132.4:c.829-158G>A ENSP00000477772.1:n.829-158G>A
NM_000598.4:c.*16-158G>A NP_000589.2:n.*16-158G>A
NM_001013398.1:c.*16-158G>A NP_001013416.1:n.*16-158G>A
NM_001013398.2:c.*16-158G>A NP_001013416.1:n.*16-158G>A
NM_000598.5:c.*16-158G>A MANE Select NP_000589.2:n.*16-158G>A