Canonical Allele Identifier: CA269532829

Gene: FBN1

Linked Data

• ClinVar Variation Id: 920583
• ClinVar RCV Id: RCV001179432 ; RCV001307462 ; RCV001823759 ; RCV002497627 ; RCV004006562
• dbSNP Id: rs956702513
• gnomAD v3: 15-48445418-T-C
• gnomAD v4: 15-48445418-T-C
• MyVariant Identifiers: chr15:g.48737615T>C (hg19) ; chr15:g.48445418T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445418T>C , CM000677.2:g.48445418T>C	GRCh38
NC_000015.9:g.48737615T>C , CM000677.1:g.48737615T>C	GRCh37
NC_000015.8:g.46524907T>C	NCBI36
NG_008805.2:g.205371A>G , LRG_778:g.205371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5875A>G	ENSP00000453958.2:p.Asn1959Asp
ENST00000674301.2:c.5875A>G	ENSP00000501333.2:p.Asn1959Asp
ENST00000684448.1:n.4549A>G
ENST00000316623.10:c.5875A>G MANE Select	ENSP00000325527.5:p.Asn1959Asp
ENST00000674301.1:c.874A>G	ENSP00000501333.1:p.Asn292Asp
ENST00000316623.9:c.5875A>G	ENSP00000325527.5:p.Asn1959Asp
ENST00000537463.6:c.*1638A>G	ENSP00000440294.2:n.*1638A>G
ENST00000559133.5:c.1182A>G
NM_000138.4:c.5875A>G , LRG_778t1:c.5875A>G	NP_000129.3:p.Asn1959Asp
NM_000138.5:c.5875A>G MANE Select	NP_000129.3:p.Asn1959Asp