Canonical Allele Identifier: CA017354
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163462
ClinVar RCV Id: RCV000150696 RCV000181613 RCV000415147 RCV000515426 RCV000524504 RCV000586322 RCV000766256
dbSNP Id: rs727503054
gnomAD v2: 15-48712949-A-G
gnomAD v4: 15-48420752-A-G
MyVariant Identifiers: chr15:g.48712949A>G (hg19) chr15:g.48420752A>G (hg38)
PubMed: PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:21907952 PMID:24161884 PMID:24833718 PMID:26333736 PMID:27146836 PMID:27611364 PMID:27724990 PMID:28855619
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48420752A>G , CM000677.2:g.48420752A>G GRCh38
NC_000015.9:g.48712949A>G , CM000677.1:g.48712949A>G GRCh37
NC_000015.8:g.46500241A>G NCBI36
NG_008805.2:g.230037T>C , LRG_778:g.230037T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*562T>C ENSP00000453958.2:n.*562T>C
ENST00000674301.2:c.*1267T>C ENSP00000501333.2:n.*1267T>C
ENST00000682170.1:n.1935T>C
ENST00000682767.1:n.1051T>C
ENST00000316623.10:c.7754T>C MANE Select ENSP00000325527.5:p.Ile2585Thr
ENST00000674301.1:c.2920T>C ENSP00000501333.1:n.2920T>C
ENST00000316623.9:c.7754T>C ENSP00000325527.5:p.Ile2585Thr
ENST00000559133.5:c.3123T>C
NM_000138.4:c.7754T>C , LRG_778t1:c.7754T>C NP_000129.3:p.Ile2585Thr
NM_000138.5:c.7754T>C MANE Select NP_000129.3:p.Ile2585Thr
Search 100 bp 5'
Search 100 bp 3'