Canonical Allele Identifier: CA016952

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200101
• ClinVar RCV Id: RCV000181587 ; RCV000469404 ; RCV000584375 ; RCV003996695
• dbSNP Id: rs794728263
• gnomAD v4: 15-48427723-T-C
• MyVariant Identifiers: chr15:g.48719920T>C (hg19) ; chr15:g.48427723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427723T>C , CM000677.2:g.48427723T>C	GRCh38
NC_000015.9:g.48719920T>C , CM000677.1:g.48719920T>C	GRCh37
NC_000015.8:g.46507212T>C	NCBI36
NG_008805.2:g.223066A>G , LRG_778:g.223066A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7110A>G	ENSP00000453958.2:p.Arg2370=
ENST00000674301.2:c.*561A>G	ENSP00000501333.2:n.*561A>G
ENST00000682170.1:n.1229A>G
ENST00000682767.1:n.345A>G
ENST00000316623.10:c.7048A>G MANE Select	ENSP00000325527.5:p.Ile2350Val
ENST00000674301.1:c.2214A>G	ENSP00000501333.1:n.2214A>G
ENST00000316623.9:c.7048A>G	ENSP00000325527.5:p.Ile2350Val
ENST00000559133.5:c.2417A>G
NM_000138.4:c.7048A>G , LRG_778t1:c.7048A>G	NP_000129.3:p.Ile2350Val
NM_000138.5:c.7048A>G MANE Select	NP_000129.3:p.Ile2350Val