Canonical Allele Identifier: CA392322503

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457267
• ClinVar RCV Id: RCV000545570 ; RCV002245997
• dbSNP Id: rs1555393825
• MyVariant Identifiers: chr15:g.48707742A>C (hg19) ; chr15:g.48415545A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415545A>C , CM000677.2:g.48415545A>C	GRCh38
NC_000015.9:g.48707742A>C , CM000677.1:g.48707742A>C	GRCh37
NC_000015.8:g.46495034A>C	NCBI36
NG_008805.2:g.235244T>G , LRG_778:g.235244T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*850T>G	ENSP00000453958.2:n.*850T>G
ENST00000674301.2:c.*1555T>G	ENSP00000501333.2:n.*1555T>G
ENST00000682158.1:n.1423T>G
ENST00000682170.1:n.2223T>G
ENST00000682767.1:n.1339T>G
ENST00000316623.10:c.8042T>G MANE Select	ENSP00000325527.5:p.Ile2681Arg
ENST00000674301.1:c.3208T>G	ENSP00000501333.1:n.3208T>G
ENST00000316623.9:c.8042T>G	ENSP00000325527.5:p.Ile2681Arg
ENST00000559133.5:c.3411T>G
ENST00000561429.1:n.297T>G
NM_000138.4:c.8042T>G , LRG_778t1:c.8042T>G	NP_000129.3:p.Ile2681Arg
NM_000138.5:c.8042T>G MANE Select	NP_000129.3:p.Ile2681Arg