Canonical Allele Identifier: CA2682720121
Gene: IGFBP3 HGNC NCBI

Linked Data

gnomAD v4: 7-45913823-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45913823G>T , CM000669.2:g.45913823G>T GRCh38
NC_000007.13:g.45953422G>T , CM000669.1:g.45953422G>T GRCh37
NC_000007.12:g.45919947G>T NCBI36
NG_011508.1:g.12450C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000613132.5:c.*27C>A MANE Select ENSP00000477772.2:n.*27C>A
ENST00000381083.9:c.*27C>A ENSP00000370473.4:n.*27C>A
ENST00000275521.10:c.*27C>A ENSP00000275521.5:n.*27C>A
ENST00000381083.8:c.*27C>A ENSP00000370473.4:n.*27C>A
ENST00000381086.9:c.*27C>A ENSP00000370476.4:n.*27C>A
ENST00000460209.1:n.533C>A
ENST00000613132.4:c.840C>A ENSP00000477772.1:n.840C>A
NM_000598.4:c.*27C>A NP_000589.2:n.*27C>A
NM_001013398.1:c.*27C>A NP_001013416.1:n.*27C>A
NM_001013398.2:c.*27C>A NP_001013416.1:n.*27C>A
NM_000598.5:c.*27C>A MANE Select NP_000589.2:n.*27C>A