Canonical Allele Identifier: CA016742

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36107
• ClinVar RCV Id: RCV000029769 ; RCV000255307 ; RCV000515227 ; RCV000586646 ; RCV000534047 ; RCV002310995
• dbSNP Id: rs193922228
• gnomAD v3: 15-48430736-A-G
• gnomAD v4: 15-48430736-A-G
• MyVariant Identifiers: chr15:g.48722933A>G (hg19) ; chr15:g.48430736A>G (hg38)
• PubMed: PMID:10464652 ; PMID:12203992 ; PMID:12938084 ; PMID:16342915 ; PMID:17657824 ; PMID:18435798 ; PMID:19159394 ; PMID:19293843 ; PMID:24793577 ; PMID:25907466 ; PMID:27611364

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430736A>G , CM000677.2:g.48430736A>G	GRCh38
NC_000015.9:g.48722933A>G , CM000677.1:g.48722933A>G	GRCh37
NC_000015.8:g.46510225A>G	NCBI36
NG_008805.2:g.220053T>C , LRG_778:g.220053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6806T>C	ENSP00000453958.2:p.Ile2269Thr
ENST00000674301.2:c.*257T>C	ENSP00000501333.2:n.*257T>C
ENST00000682170.1:n.415T>C
ENST00000316623.10:c.6806T>C MANE Select	ENSP00000325527.5:p.Ile2269Thr
ENST00000674301.1:c.1910T>C	ENSP00000501333.1:n.1910T>C
ENST00000316623.9:c.6806T>C	ENSP00000325527.5:p.Ile2269Thr
ENST00000559133.5:c.2113T>C
ENST00000560720.1:n.93T>C
NM_000138.4:c.6806T>C , LRG_778t1:c.6806T>C	NP_000129.3:p.Ile2269Thr
NM_000138.5:c.6806T>C MANE Select	NP_000129.3:p.Ile2269Thr