Canonical Allele Identifier: CA392318848

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411124-A-C
• MyVariant Identifiers: chr15:g.48703321A>C (hg19) ; chr15:g.48411124A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411124A>C , CM000677.2:g.48411124A>C	GRCh38
NC_000015.9:g.48703321A>C , CM000677.1:g.48703321A>C	GRCh37
NC_000015.8:g.46490613A>C	NCBI36
NG_008805.2:g.239665T>G , LRG_778:g.239665T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1290T>G	ENSP00000453958.2:n.*1290T>G
ENST00000674301.2:c.*1995T>G	ENSP00000501333.2:n.*1995T>G
ENST00000682158.1:n.1863T>G
ENST00000682170.1:n.2663T>G
ENST00000682767.1:n.1779T>G
ENST00000316623.10:c.8482T>G MANE Select	ENSP00000325527.5:p.Ser2828Ala
ENST00000674301.1:c.3648T>G	ENSP00000501333.1:n.3648T>G
ENST00000316623.9:c.8482T>G	ENSP00000325527.5:p.Ser2828Ala
ENST00000559133.5:c.3851T>G
NM_000138.4:c.8482T>G , LRG_778t1:c.8482T>G	NP_000129.3:p.Ser2828Ala
NM_000138.5:c.8482T>G MANE Select	NP_000129.3:p.Ser2828Ala