Canonical Allele Identifier: CA269518591

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1414872
• ClinVar RCV Id: RCV001945406 ; RCV004542176 ; RCV003528345
• dbSNP Id: rs363848
• gnomAD v3: 15-48411000-A-G
• gnomAD v4: 15-48411000-A-G
• MyVariant Identifiers: chr15:g.48703197A>G (hg19) ; chr15:g.48411000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411000A>G , CM000677.2:g.48411000A>G	GRCh38
NC_000015.9:g.48703197A>G , CM000677.1:g.48703197A>G	GRCh37
NC_000015.8:g.46490489A>G	NCBI36
NG_008805.2:g.239789T>C , LRG_778:g.239789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1414T>C	ENSP00000453958.2:n.*1414T>C
ENST00000682158.1:n.1987T>C
ENST00000682170.1:n.2787T>C
ENST00000682767.1:n.1903T>C
ENST00000316623.10:c.8606T>C MANE Select	ENSP00000325527.5:p.Leu2869Ser
ENST00000316623.9:c.8606T>C	ENSP00000325527.5:p.Leu2869Ser
ENST00000559133.5:c.3975T>C
NM_000138.4:c.8606T>C , LRG_778t1:c.8606T>C	NP_000129.3:p.Leu2869Ser
NM_000138.5:c.8606T>C MANE Select	NP_000129.3:p.Leu2869Ser