Canonical Allele Identifier: CA016742
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36107
ClinVar RCV Id: 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
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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
Search 100 bp 5'
Search 100 bp 3'