Canonical Allele Identifier: CA158024900
Gene: IGFBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1000759316
gnomAD v3: 7-45913609-G-A
gnomAD v4: 7-45913609-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45913609G>A , CM000669.2:g.45913609G>A GRCh38
NC_000007.13:g.45953208G>A , CM000669.1:g.45953208G>A GRCh37
NC_000007.12:g.45919733G>A NCBI36
NG_011508.1:g.12664C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000613132.5:c.*241C>T MANE Select ENSP00000477772.2:n.*241C>T
ENST00000381083.9:c.*241C>T ENSP00000370473.4:n.*241C>T
ENST00000275521.10:c.*241C>T ENSP00000275521.5:n.*241C>T
ENST00000381086.9:c.*241C>T ENSP00000370476.4:n.*241C>T
ENST00000613132.4:c.1054C>T ENSP00000477772.1:n.1054C>T
NM_000598.4:c.*241C>T NP_000589.2:n.*241C>T
NM_001013398.1:c.*241C>T NP_001013416.1:n.*241C>T
NM_001013398.2:c.*241C>T NP_001013416.1:n.*241C>T
NM_000598.5:c.*241C>T MANE Select NP_000589.2:n.*241C>T