Canonical Allele Identifier: CA2682720140
Gene: IGFBP3 HGNC NCBI

Linked Data

gnomAD v4: 7-45913886-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45913886A>G , CM000669.2:g.45913886A>G GRCh38
NC_000007.13:g.45953485A>G , CM000669.1:g.45953485A>G GRCh37
NC_000007.12:g.45920010A>G NCBI36
NG_011508.1:g.12387T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000613132.5:c.*16-52T>C MANE Select ENSP00000477772.2:n.*16-52T>C
ENST00000381083.9:c.*16-52T>C ENSP00000370473.4:n.*16-52T>C
ENST00000275521.10:c.*16-52T>C ENSP00000275521.5:n.*16-52T>C
ENST00000381083.8:c.*16-52T>C ENSP00000370473.4:n.*16-52T>C
ENST00000381086.9:c.*16-52T>C ENSP00000370476.4:n.*16-52T>C
ENST00000460209.1:n.522-52T>C
ENST00000613132.4:c.829-52T>C ENSP00000477772.1:n.829-52T>C
NM_000598.4:c.*16-52T>C NP_000589.2:n.*16-52T>C
NM_001013398.1:c.*16-52T>C NP_001013416.1:n.*16-52T>C
NM_001013398.2:c.*16-52T>C NP_001013416.1:n.*16-52T>C
NM_000598.5:c.*16-52T>C MANE Select NP_000589.2:n.*16-52T>C