Canonical Allele Identifier: CA392321650

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1071312
• ClinVar RCV Id: RCV001383754
• dbSNP Id: rs2141211820
• MyVariant Identifiers: chr15:g.48704935C>A (hg19) ; chr15:g.48412738C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412738C>A , CM000677.2:g.48412738C>A	GRCh38
NC_000015.9:g.48704935C>A , CM000677.1:g.48704935C>A	GRCh37
NC_000015.8:g.46492227C>A	NCBI36
NG_008805.2:g.238051G>T , LRG_778:g.238051G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*865G>T	ENSP00000453958.2:n.*865G>T
ENST00000674301.2:c.*1570G>T	ENSP00000501333.2:n.*1570G>T
ENST00000682158.1:n.1438G>T
ENST00000682170.1:n.2238G>T
ENST00000682767.1:n.1354G>T
ENST00000316623.10:c.8057G>T MANE Select	ENSP00000325527.5:p.Cys2686Phe
ENST00000674301.1:c.3223G>T	ENSP00000501333.1:n.3223G>T
ENST00000316623.9:c.8057G>T	ENSP00000325527.5:p.Cys2686Phe
ENST00000559133.5:c.3426G>T
ENST00000561429.1:n.312G>T
NM_000138.4:c.8057G>T , LRG_778t1:c.8057G>T	NP_000129.3:p.Cys2686Phe
NM_000138.5:c.8057G>T MANE Select	NP_000129.3:p.Cys2686Phe