Canonical Allele Identifier: CA059904

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406312
• ClinVar RCV Id: RCV000471343 ; RCV000587559 ; RCV001177373 ; RCV002481398 ; RCV003155187 ; RCV004000734
• dbSNP Id: rs536503540
• ExAC: 15:48703503 T / C
• gnomAD v2: 15-48703503-T-C
• gnomAD v3: 15-48411306-T-C
• gnomAD v4: 15-48411306-T-C
• MyVariant Identifiers: chr15:g.48703503T>C (hg19) ; chr15:g.48411306T>C (hg38)
• PubMed: PMID:26333736

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411306T>C , CM000677.2:g.48411306T>C	GRCh38
NC_000015.9:g.48703503T>C , CM000677.1:g.48703503T>C	GRCh37
NC_000015.8:g.46490795T>C	NCBI36
NG_008805.2:g.239483A>G , LRG_778:g.239483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1108A>G	ENSP00000453958.2:n.*1108A>G
ENST00000674301.2:c.*1813A>G	ENSP00000501333.2:n.*1813A>G
ENST00000682158.1:n.1681A>G
ENST00000682170.1:n.2481A>G
ENST00000682767.1:n.1597A>G
ENST00000316623.10:c.8300A>G MANE Select	ENSP00000325527.5:p.Asn2767Ser
ENST00000674301.1:c.3466A>G	ENSP00000501333.1:n.3466A>G
ENST00000316623.9:c.8300A>G	ENSP00000325527.5:p.Asn2767Ser
ENST00000559133.5:c.3669A>G
ENST00000561429.1:n.555A>G
NM_000138.4:c.8300A>G , LRG_778t1:c.8300A>G	NP_000129.3:p.Asn2767Ser
NM_000138.5:c.8300A>G MANE Select	NP_000129.3:p.Asn2767Ser