Canonical Allele Identifier: CA124307
Gene: IGF1R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14790
ClinVar RCV Id: RCV000015913
dbSNP Id: rs121912426

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98707880G>A , CM000677.2:g.98707880G>A GRCh38
NC_000015.8:g.97068632G>A NCBI36
NC_000015.9:g.99251109G>A , CM000677.1:g.99251109G>A GRCh37
NG_009492.1:g.63349G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268035.10:c.413G>A ENSP00000268035.6:p.Arg138Gln
ENST00000558355.1:n.50G>A ENSP00000453630.1:p.Arg17Gln
ENST00000558762.5:c.413G>A ENSP00000453007.1:p.Arg138Gln
ENST00000559925.5:n.413G>A
NM_000875.4:c.413G>A NP_000866.1:p.Arg138Gln
NM_001291858.1:c.413G>A NP_001278787.1:p.Arg138Gln
XM_011521513.1:c.413G>A XP_011519815.1:p.Arg138Gln
XM_011521514.1:c.413G>A XP_011519816.1:p.Arg138Gln
XM_011521515.1:c.413G>A XP_011519817.1:p.Arg138Gln