Canonical Allele Identifier: CA017463

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200123
• ClinVar RCV Id: RCV000181620 ; RCV000586564 ; RCV000663995 ; RCV000770653 ; RCV002515309
• dbSNP Id: rs794728280
• gnomAD v3: 15-48415671-T-C
• gnomAD v4: 15-48415671-T-C
• MyVariant Identifiers: chr15:g.48707868T>C (hg19) ; chr15:g.48415671T>C (hg38)
• PubMed: PMID:11700157 ; PMID:11933199 ; PMID:19659760 ; PMID:20200614 ; PMID:21895641 ; PMID:23684891 ; PMID:24161884 ; PMID:27146836

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415671T>C , CM000677.2:g.48415671T>C	GRCh38
NC_000015.9:g.48707868T>C , CM000677.1:g.48707868T>C	GRCh37
NC_000015.8:g.46495160T>C	NCBI36
NG_008805.2:g.235118A>G , LRG_778:g.235118A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*724A>G	ENSP00000453958.2:n.*724A>G
ENST00000674301.2:c.*1429A>G	ENSP00000501333.2:n.*1429A>G
ENST00000682158.1:n.1297A>G
ENST00000682170.1:n.2097A>G
ENST00000682767.1:n.1213A>G
ENST00000316623.10:c.7916A>G MANE Select	ENSP00000325527.5:p.Tyr2639Cys
ENST00000674301.1:c.3082A>G	ENSP00000501333.1:n.3082A>G
ENST00000316623.9:c.7916A>G	ENSP00000325527.5:p.Tyr2639Cys
ENST00000559133.5:c.3285A>G
ENST00000561429.1:n.171A>G
NM_000138.4:c.7916A>G , LRG_778t1:c.7916A>G	NP_000129.3:p.Tyr2639Cys
NM_000138.5:c.7916A>G MANE Select	NP_000129.3:p.Tyr2639Cys