Canonical Allele Identifier: CA392322754

Gene: FBN1

Linked Data

• ClinVar Variation Id: 924642
• ClinVar RCV Id: RCV001186116 ; RCV003770076
• dbSNP Id: rs2042896586
• MyVariant Identifiers: chr15:g.48707793G>A (hg19) ; chr15:g.48415596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415596G>A , CM000677.2:g.48415596G>A	GRCh38
NC_000015.9:g.48707793G>A , CM000677.1:g.48707793G>A	GRCh37
NC_000015.8:g.46495085G>A	NCBI36
NG_008805.2:g.235193C>T , LRG_778:g.235193C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*799C>T	ENSP00000453958.2:n.*799C>T
ENST00000674301.2:c.*1504C>T	ENSP00000501333.2:n.*1504C>T
ENST00000682158.1:n.1372C>T
ENST00000682170.1:n.2172C>T
ENST00000682767.1:n.1288C>T
ENST00000316623.10:c.7991C>T MANE Select	ENSP00000325527.5:p.Ser2664Phe
ENST00000674301.1:c.3157C>T	ENSP00000501333.1:n.3157C>T
ENST00000316623.9:c.7991C>T	ENSP00000325527.5:p.Ser2664Phe
ENST00000559133.5:c.3360C>T
ENST00000561429.1:n.246C>T
NM_000138.4:c.7991C>T , LRG_778t1:c.7991C>T	NP_000129.3:p.Ser2664Phe
NM_000138.5:c.7991C>T MANE Select	NP_000129.3:p.Ser2664Phe