Canonical Allele Identifier: CA055263

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406289
• ClinVar RCV Id: RCV000476381 ; RCV001753875 ; RCV001181376 ; RCV001095722 ; RCV002502618
• dbSNP Id: rs766358553
• ExAC: 15:48741054 C / T
• gnomAD v2: 15-48741054-C-T
• gnomAD v3: 15-48448857-C-T
• gnomAD v4: 15-48448857-C-T
• MyVariant Identifiers: chr15:g.48741054C>T (hg19) ; chr15:g.48448857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448857C>T , CM000677.2:g.48448857C>T	GRCh38
NC_000015.9:g.48741054C>T , CM000677.1:g.48741054C>T	GRCh37
NC_000015.8:g.46528346C>T	NCBI36
NG_008805.2:g.201932G>A , LRG_778:g.201932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5582G>A	ENSP00000453958.2:p.Ser1861Asn
ENST00000674301.2:c.5582G>A	ENSP00000501333.2:p.Ser1861Asn
ENST00000684448.1:n.4256G>A
ENST00000316623.10:c.5582G>A MANE Select	ENSP00000325527.5:p.Ser1861Asn
ENST00000674301.1:c.581G>A	ENSP00000501333.1:p.Ser194Asn
ENST00000316623.9:c.5582G>A	ENSP00000325527.5:p.Ser1861Asn
ENST00000537463.6:c.*1345G>A	ENSP00000440294.2:n.*1345G>A
ENST00000559133.5:c.889G>A
NM_000138.4:c.5582G>A , LRG_778t1:c.5582G>A	NP_000129.3:p.Ser1861Asn
NM_000138.5:c.5582G>A MANE Select	NP_000129.3:p.Ser1861Asn