Canonical Allele Identifier: CA574248619

Gene: IGFBP3

Linked Data

• dbSNP Id: rs1200214121
• gnomAD v2: 7-45953127-C-T
• gnomAD v3: 7-45913528-C-T
• gnomAD v4: 7-45913528-C-T
• MyVariant Identifiers: chr7:g.45953127C>T (hg19) ; chr7:g.45913528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45913528C>T , CM000669.2:g.45913528C>T	GRCh38
NC_000007.13:g.45953127C>T , CM000669.1:g.45953127C>T	GRCh37
NC_000007.12:g.45919652C>T	NCBI36
NG_011508.1:g.12745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613132.5:c.*322G>A MANE Select	ENSP00000477772.2:n.*322G>A
ENST00000381083.9:c.*322G>A	ENSP00000370473.4:n.*322G>A
ENST00000275521.10:c.*322G>A	ENSP00000275521.5:n.*322G>A
ENST00000381086.9:c.*322G>A	ENSP00000370476.4:n.*322G>A
ENST00000613132.4:c.1135G>A	ENSP00000477772.1:n.1135G>A
NM_000598.4:c.*322G>A	NP_000589.2:n.*322G>A
NM_001013398.1:c.*322G>A	NP_001013416.1:n.*322G>A
NM_001013398.2:c.*322G>A	NP_001013416.1:n.*322G>A
NM_000598.5:c.*322G>A MANE Select	NP_000589.2:n.*322G>A