Canonical Allele Identifier: CA2682720114
Gene: IGFBP3 HGNC NCBI

Linked Data

gnomAD v4: 7-45913802-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45913802T>A , CM000669.2:g.45913802T>A GRCh38
NC_000007.13:g.45953401T>A , CM000669.1:g.45953401T>A GRCh37
NC_000007.12:g.45919926T>A NCBI36
NG_011508.1:g.12471A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000613132.5:c.*48A>T MANE Select ENSP00000477772.2:n.*48A>T
ENST00000381083.9:c.*48A>T ENSP00000370473.4:n.*48A>T
ENST00000275521.10:c.*48A>T ENSP00000275521.5:n.*48A>T
ENST00000381086.9:c.*48A>T ENSP00000370476.4:n.*48A>T
ENST00000460209.1:n.554A>T
ENST00000613132.4:c.861A>T ENSP00000477772.1:n.861A>T
NM_000598.4:c.*48A>T NP_000589.2:n.*48A>T
NM_001013398.1:c.*48A>T NP_001013416.1:n.*48A>T
NM_001013398.2:c.*48A>T NP_001013416.1:n.*48A>T
NM_000598.5:c.*48A>T MANE Select NP_000589.2:n.*48A>T