Canonical Allele Identifier: CA158024862
Gene: IGFBP3 HGNC NCBI

Linked Data

dbSNP Id: rs144988498
gnomAD v2: 7-45953153-G-A
gnomAD v3: 7-45913554-G-A
gnomAD v4: 7-45913554-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45913554G>A , CM000669.2:g.45913554G>A GRCh38
NC_000007.13:g.45953153G>A , CM000669.1:g.45953153G>A GRCh37
NC_000007.12:g.45919678G>A NCBI36
NG_011508.1:g.12719C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000613132.5:c.*296C>T MANE Select ENSP00000477772.2:n.*296C>T
ENST00000381083.9:c.*296C>T ENSP00000370473.4:n.*296C>T
ENST00000275521.10:c.*296C>T ENSP00000275521.5:n.*296C>T
ENST00000381086.9:c.*296C>T ENSP00000370476.4:n.*296C>T
ENST00000613132.4:c.1109C>T ENSP00000477772.1:n.1109C>T
NM_000598.4:c.*296C>T NP_000589.2:n.*296C>T
NM_001013398.1:c.*296C>T NP_001013416.1:n.*296C>T
NM_001013398.2:c.*296C>T NP_001013416.1:n.*296C>T
NM_000598.5:c.*296C>T MANE Select NP_000589.2:n.*296C>T