Canonical Allele Identifier: CA158024829

Gene: IGFBP3

Linked Data

• dbSNP Id: rs184231714
• gnomAD v2: 7-45953130-C-T
• gnomAD v3: 7-45913531-C-T
• gnomAD v4: 7-45913531-C-T
• MyVariant Identifiers: chr7:g.45953130C>T (hg19) ; chr7:g.45913531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45913531C>T , CM000669.2:g.45913531C>T	GRCh38
NC_000007.13:g.45953130C>T , CM000669.1:g.45953130C>T	GRCh37
NC_000007.12:g.45919655C>T	NCBI36
NG_011508.1:g.12742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613132.5:c.*319G>A MANE Select	ENSP00000477772.2:n.*319G>A
ENST00000381083.9:c.*319G>A	ENSP00000370473.4:n.*319G>A
ENST00000275521.10:c.*319G>A	ENSP00000275521.5:n.*319G>A
ENST00000381086.9:c.*319G>A	ENSP00000370476.4:n.*319G>A
ENST00000613132.4:c.1132G>A	ENSP00000477772.1:n.1132G>A
NM_000598.4:c.*319G>A	NP_000589.2:n.*319G>A
NM_001013398.1:c.*319G>A	NP_001013416.1:n.*319G>A
NM_001013398.2:c.*319G>A	NP_001013416.1:n.*319G>A
NM_000598.5:c.*319G>A MANE Select	NP_000589.2:n.*319G>A