Canonical Allele Identifier: CA490014482

Gene: FBN1

Linked Data

• ClinVar Variation Id: 927043
• ClinVar RCV Id: RCV001190051
• dbSNP Id: rs1221183561
• gnomAD v3: 15-48412584-A-G
• gnomAD v4: 15-48412584-A-G
• MyVariant Identifiers: chr15:g.48704781A>G (hg19) ; chr15:g.48412584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412584A>G , CM000677.2:g.48412584A>G	GRCh38
NC_000015.9:g.48704781A>G , CM000677.1:g.48704781A>G	GRCh37
NC_000015.8:g.46492073A>G	NCBI36
NG_008805.2:g.238205T>C , LRG_778:g.238205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1019T>C	ENSP00000453958.2:n.*1019T>C
ENST00000674301.2:c.*1724T>C	ENSP00000501333.2:n.*1724T>C
ENST00000682158.1:n.1592T>C
ENST00000682170.1:n.2392T>C
ENST00000682767.1:n.1508T>C
ENST00000316623.10:c.8211T>C MANE Select	ENSP00000325527.5:p.Asp2737=
ENST00000674301.1:c.3377T>C	ENSP00000501333.1:n.3377T>C
ENST00000316623.9:c.8211T>C	ENSP00000325527.5:p.Asp2737=
ENST00000559133.5:c.3580T>C
ENST00000561429.1:n.466T>C
NM_000138.4:c.8211T>C , LRG_778t1:c.8211T>C	NP_000129.3:p.Asp2737=
NM_000138.5:c.8211T>C MANE Select	NP_000129.3:p.Asp2737=