Canonical Allele Identifier: CA017835

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42446
• ClinVar RCV Id: RCV000035292
• dbSNP Id: rs397515865
• MyVariant Identifiers: chr15:g.48703203T>G (hg19) ; chr15:g.48411006T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411006T>G , CM000677.2:g.48411006T>G	GRCh38
NC_000015.9:g.48703203T>G , CM000677.1:g.48703203T>G	GRCh37
NC_000015.8:g.46490495T>G	NCBI36
NG_008805.2:g.239783A>C , LRG_778:g.239783A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1408A>C	ENSP00000453958.2:n.*1408A>C
ENST00000682158.1:n.1981A>C
ENST00000682170.1:n.2781A>C
ENST00000682767.1:n.1897A>C
ENST00000316623.10:c.8600A>C MANE Select	ENSP00000325527.5:p.Gln2867Pro
ENST00000316623.9:c.8600A>C	ENSP00000325527.5:p.Gln2867Pro
ENST00000559133.5:c.3969A>C
NM_000138.4:c.8600A>C , LRG_778t1:c.8600A>C	NP_000129.3:p.Gln2867Pro
NM_000138.5:c.8600A>C MANE Select	NP_000129.3:p.Gln2867Pro