Canonical Allele Identifier: CA392319714

Gene: FBN1

Linked Data

• dbSNP Id: rs112189340
• gnomAD v3: 15-48411296-G-T
• gnomAD v4: 15-48411296-G-T
• MyVariant Identifiers: chr15:g.48703493G>T (hg19) ; chr15:g.48411296G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411296G>T , CM000677.2:g.48411296G>T	GRCh38
NC_000015.9:g.48703493G>T , CM000677.1:g.48703493G>T	GRCh37
NC_000015.8:g.46490785G>T	NCBI36
NG_008805.2:g.239493C>A , LRG_778:g.239493C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1118C>A	ENSP00000453958.2:n.*1118C>A
ENST00000674301.2:c.*1823C>A	ENSP00000501333.2:n.*1823C>A
ENST00000682158.1:n.1691C>A
ENST00000682170.1:n.2491C>A
ENST00000682767.1:n.1607C>A
ENST00000316623.10:c.8310C>A MANE Select	ENSP00000325527.5:p.His2770Gln
ENST00000674301.1:c.3476C>A	ENSP00000501333.1:n.3476C>A
ENST00000316623.9:c.8310C>A	ENSP00000325527.5:p.His2770Gln
ENST00000559133.5:c.3679C>A
ENST00000561429.1:n.565C>A
NM_000138.4:c.8310C>A , LRG_778t1:c.8310C>A	NP_000129.3:p.His2770Gln
NM_000138.5:c.8310C>A MANE Select	NP_000129.3:p.His2770Gln