Canonical Allele Identifier: CA12506095
Gene: IGFBP3 HGNC NCBI

Linked Data

dbSNP Id: rs2854747
gnomAD v2: 7-45959917-G-A
gnomAD v3: 7-45920318-G-A
gnomAD v4: 7-45920318-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45920318G>A , CM000669.2:g.45920318G>A GRCh38
NC_000007.13:g.45959917G>A , CM000669.1:g.45959917G>A GRCh37
NC_000007.12:g.45926442G>A NCBI36
NG_011508.1:g.5955C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000613132.5:c.403+420C>T MANE Select ENSP00000477772.2:n.403+420C>T
ENST00000381083.9:c.421+402C>T ENSP00000370473.4:n.421+402C>T
ENST00000275521.10:c.403+420C>T ENSP00000275521.5:n.403+420C>T
ENST00000381083.8:c.421+402C>T ENSP00000370473.4:n.421+402C>T
ENST00000381086.9:c.112+420C>T ENSP00000370476.4:n.112+420C>T
ENST00000448817.1:c.73+1309C>T ENSP00000389668.1:n.73+1309C>T
ENST00000460477.1:n.130+420C>T
ENST00000465642.1:n.98C>T
ENST00000613132.4:c.340+420C>T ENSP00000477772.1:n.340+420C>T
ENST00000615754.4:c.319+420C>T ENSP00000480717.1:n.319+420C>T
NM_000598.4:c.403+420C>T NP_000589.2:n.403+420C>T
NM_001013398.1:c.421+402C>T NP_001013416.1:n.421+402C>T
NM_001013398.2:c.421+402C>T NP_001013416.1:n.421+402C>T
NM_000598.5:c.403+420C>T MANE Select NP_000589.2:n.403+420C>T