Canonical Allele Identifier: CA12538032

Gene: IGFBP3

Linked Data

• dbSNP Id: rs2453839
• gnomAD v2: 7-45953573-T-C
• gnomAD v3: 7-45913974-T-C
• gnomAD v4: 7-45913974-T-C
• MyVariant Identifiers: chr7:g.45953573T>C (hg19) ; chr7:g.45913974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45913974T>C , CM000669.2:g.45913974T>C	GRCh38
NC_000007.13:g.45953573T>C , CM000669.1:g.45953573T>C	GRCh37
NC_000007.12:g.45920098T>C	NCBI36
NG_011508.1:g.12299A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000613132.5:c.*16-140A>G MANE Select	ENSP00000477772.2:n.*16-140A>G
ENST00000381083.9:c.*16-140A>G	ENSP00000370473.4:n.*16-140A>G
ENST00000275521.10:c.*16-140A>G	ENSP00000275521.5:n.*16-140A>G
ENST00000381083.8:c.*16-140A>G	ENSP00000370473.4:n.*16-140A>G
ENST00000381086.9:c.*16-140A>G	ENSP00000370476.4:n.*16-140A>G
ENST00000460209.1:n.522-140A>G
ENST00000613132.4:c.829-140A>G	ENSP00000477772.1:n.829-140A>G
NM_000598.4:c.*16-140A>G	NP_000589.2:n.*16-140A>G
NM_001013398.1:c.*16-140A>G	NP_001013416.1:n.*16-140A>G
NM_001013398.2:c.*16-140A>G	NP_001013416.1:n.*16-140A>G
NM_000598.5:c.*16-140A>G MANE Select	NP_000589.2:n.*16-140A>G