Canonical Allele Identifier: CA015068

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36074
• ClinVar RCV Id: RCV000035201 ; RCV000029736 ; RCV000515317 ; RCV000724063 ; RCV001088381 ; RCV001176800 ; RCV004541020
• dbSNP Id: rs61730054
• ExAC: 15:48762849 T / C
• gnomAD v2: 15-48762849-T-C
• gnomAD v3: 15-48470652-T-C
• gnomAD v4: 15-48470652-T-C
• MyVariant Identifiers: chr15:g.48762849T>C (hg19) ; chr15:g.48470652T>C (hg38)
• PubMed: PMID:21542060 ; PMID:24793577 ; PMID:27647783

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48470652T>C , CM000677.2:g.48470652T>C	GRCh38
NC_000015.9:g.48762849T>C , CM000677.1:g.48762849T>C	GRCh37
NC_000015.8:g.46550141T>C	NCBI36
NG_008805.2:g.180137A>G , LRG_778:g.180137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4441A>G	ENSP00000453958.2:p.Ser1481Gly
ENST00000674301.2:c.4441A>G	ENSP00000501333.2:p.Ser1481Gly
ENST00000683268.1:n.408A>G
ENST00000684448.1:n.3115A>G
ENST00000316623.10:c.4441A>G MANE Select	ENSP00000325527.5:p.Ser1481Gly
ENST00000316623.9:c.4441A>G	ENSP00000325527.5:p.Ser1481Gly
ENST00000537463.6:c.*204A>G	ENSP00000440294.2:n.*204A>G
NM_000138.4:c.4441A>G , LRG_778t1:c.4441A>G	NP_000129.3:p.Ser1481Gly
NM_000138.5:c.4441A>G MANE Select	NP_000129.3:p.Ser1481Gly