Canonical Allele Identifier: CA353668

Gene: FBN1

Linked Data

• ClinVar Variation Id: 222613
• ClinVar RCV Id: RCV000208392
• dbSNP Id: rs869025415
• MyVariant Identifiers: chr15:g.48717598T>C (hg19) ; chr15:g.48425401T>C (hg38)
• PubMed: PMID:11826022 ; PMID:17663468

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425401T>C , CM000677.2:g.48425401T>C	GRCh38
NC_000015.9:g.48717598T>C , CM000677.1:g.48717598T>C	GRCh37
NC_000015.8:g.46504890T>C	NCBI36
NG_008805.2:g.225388A>G , LRG_778:g.225388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*229A>G	ENSP00000453958.2:n.*229A>G
ENST00000674301.2:c.*934A>G	ENSP00000501333.2:n.*934A>G
ENST00000682170.1:n.1602A>G
ENST00000682767.1:n.718A>G
ENST00000316623.10:c.7421A>G MANE Select	ENSP00000325527.5:p.Tyr2474Cys
ENST00000674301.1:c.2587A>G	ENSP00000501333.1:n.2587A>G
ENST00000316623.9:c.7421A>G	ENSP00000325527.5:p.Tyr2474Cys
ENST00000559133.5:c.2790A>G
NM_000138.4:c.7421A>G , LRG_778t1:c.7421A>G	NP_000129.3:p.Tyr2474Cys
NM_000138.5:c.7421A>G MANE Select	NP_000129.3:p.Tyr2474Cys