Canonical Allele Identifier: CA2555740301
Gene: IGFBP3 HGNC NCBI

Linked Data

gnomAD v4: 7-45913779-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45913779G>A , CM000669.2:g.45913779G>A GRCh38
NC_000007.13:g.45953378G>A , CM000669.1:g.45953378G>A GRCh37
NC_000007.12:g.45919903G>A NCBI36
NG_011508.1:g.12494C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000613132.5:c.*71C>T MANE Select ENSP00000477772.2:n.*71C>T
ENST00000381083.9:c.*71C>T ENSP00000370473.4:n.*71C>T
ENST00000275521.10:c.*71C>T ENSP00000275521.5:n.*71C>T
ENST00000381086.9:c.*71C>T ENSP00000370476.4:n.*71C>T
ENST00000460209.1:n.577C>T
ENST00000613132.4:c.884C>T ENSP00000477772.1:n.884C>T
NM_000598.4:c.*71C>T NP_000589.2:n.*71C>T
NM_001013398.1:c.*71C>T NP_001013416.1:n.*71C>T
NM_001013398.2:c.*71C>T NP_001013416.1:n.*71C>T
NM_000598.5:c.*71C>T MANE Select NP_000589.2:n.*71C>T