Canonical Allele Identifier: CA017354

Gene: FBN1

Linked Data

• ClinVar Variation Id: 163462
• ClinVar RCV Id: RCV000150696 ; RCV000181613 ; RCV000524504 ; RCV000586322 ; RCV000415147 ; RCV000515426 ; RCV000766256 ; RCV003448975
• 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

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