Canonical Allele Identifier: CA017000

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42419
• ClinVar RCV Id: RCV000035264
• dbSNP Id: rs397515845
• MyVariant Identifiers: chr15:g.48719874C>T (hg19) ; chr15:g.48427677C>T (hg38)
• PubMed: PMID:17253931 ; PMID:17657824 ; PMID:17663468

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427677C>T , CM000677.2:g.48427677C>T	GRCh38
NC_000015.9:g.48719874C>T , CM000677.1:g.48719874C>T	GRCh37
NC_000015.8:g.46507166C>T	NCBI36
NG_008805.2:g.223112G>A , LRG_778:g.223112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7156G>A	ENSP00000453958.2:p.Val2386Met
ENST00000674301.2:c.*607G>A	ENSP00000501333.2:n.*607G>A
ENST00000682170.1:n.1275G>A
ENST00000682767.1:n.391G>A
ENST00000316623.10:c.7094G>A MANE Select	ENSP00000325527.5:p.Cys2365Tyr
ENST00000674301.1:c.2260G>A	ENSP00000501333.1:n.2260G>A
ENST00000316623.9:c.7094G>A	ENSP00000325527.5:p.Cys2365Tyr
ENST00000559133.5:c.2463G>A
NM_000138.4:c.7094G>A , LRG_778t1:c.7094G>A	NP_000129.3:p.Cys2365Tyr
NM_000138.5:c.7094G>A MANE Select	NP_000129.3:p.Cys2365Tyr