Canonical Allele Identifier: CA392320818

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549457
• ClinVar RCV Id: RCV000664016 ; RCV001796176 ; RCV003485626
• dbSNP Id: rs1371152380
• gnomAD v4: 15-48412607-G-A
• COSMIC: COSM272141
• MyVariant Identifiers: chr15:g.48704804G>A (hg19) ; chr15:g.48412607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412607G>A , CM000677.2:g.48412607G>A	GRCh38
NC_000015.9:g.48704804G>A , CM000677.1:g.48704804G>A	GRCh37
NC_000015.8:g.46492096G>A	NCBI36
NG_008805.2:g.238182C>T , LRG_778:g.238182C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*996C>T	ENSP00000453958.2:n.*996C>T
ENST00000674301.2:c.*1701C>T	ENSP00000501333.2:n.*1701C>T
ENST00000682158.1:n.1569C>T
ENST00000682170.1:n.2369C>T
ENST00000682767.1:n.1485C>T
ENST00000316623.10:c.8188C>T MANE Select	ENSP00000325527.5:p.Arg2730Trp
ENST00000674301.1:c.3354C>T	ENSP00000501333.1:n.3354C>T
ENST00000316623.9:c.8188C>T	ENSP00000325527.5:p.Arg2730Trp
ENST00000559133.5:c.3557C>T
ENST00000561429.1:n.443C>T
NM_000138.4:c.8188C>T , LRG_778t1:c.8188C>T	NP_000129.3:p.Arg2730Trp
NM_000138.5:c.8188C>T MANE Select	NP_000129.3:p.Arg2730Trp