Canonical Allele Identifier: CA017211

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42426
• ClinVar RCV Id: RCV000035271
• dbSNP Id: rs397515851
• MyVariant Identifiers: chr15:g.48717565C>A (hg19) ; chr15:g.48425368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425368C>A , CM000677.2:g.48425368C>A	GRCh38
NC_000015.9:g.48717565C>A , CM000677.1:g.48717565C>A	GRCh37
NC_000015.8:g.46504857C>A	NCBI36
NG_008805.2:g.225421G>T , LRG_778:g.225421G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*261+1G>T	ENSP00000453958.2:n.*261+1G>T
ENST00000674301.2:c.*966+1G>T	ENSP00000501333.2:n.*966+1G>T
ENST00000682170.1:n.1634+1G>T
ENST00000682767.1:n.750+1G>T
ENST00000316623.10:c.7453+1G>T MANE Select	ENSP00000325527.5:n.7453+1G>T
ENST00000674301.1:c.2619+1G>T	ENSP00000501333.1:n.2619+1G>T
ENST00000316623.9:c.7453+1G>T	ENSP00000325527.5:n.7453+1G>T
ENST00000559133.5:c.2822+1G>T
NM_000138.4:c.7453+1G>T , LRG_778t1:c.7453+1G>T	NP_000129.3:n.7453+1G>T
NM_000138.5:c.7453+1G>T MANE Select	NP_000129.3:n.7453+1G>T