Canonical Allele Identifier: CA044757

Gene: FBN1

Linked Data

• ClinVar Variation Id: 515684
• ClinVar RCV Id: RCV000600067 ; RCV001181631 ; RCV001860329 ; RCV004002596
• dbSNP Id: rs765579667
• ExAC: 15:48807580 G / A
• gnomAD v2: 15-48807580-G-A
• gnomAD v3: 15-48515383-G-A
• gnomAD v4: 15-48515383-G-A
• MyVariant Identifiers: chr15:g.48807580G>A (hg19) ; chr15:g.48515383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48515383G>A , CM000677.2:g.48515383G>A	GRCh38
NC_000015.9:g.48807580G>A , CM000677.1:g.48807580G>A	GRCh37
NC_000015.8:g.46594872G>A	NCBI36
NG_008805.2:g.135406C>T , LRG_778:g.135406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1468+4C>T	ENSP00000453958.2:n.1468+4C>T
ENST00000674301.2:c.1468+4C>T	ENSP00000501333.2:n.1468+4C>T
ENST00000684448.1:n.142+4C>T
ENST00000316623.10:c.1468+4C>T MANE Select	ENSP00000325527.5:n.1468+4C>T
ENST00000316623.9:c.1468+4C>T	ENSP00000325527.5:n.1468+4C>T
ENST00000537463.6:c.636+22328C>T	ENSP00000440294.2:n.636+22328C>T
NM_000138.4:c.1468+4C>T , LRG_778t1:c.1468+4C>T	NP_000129.3:n.1468+4C>T
NM_000138.5:c.1468+4C>T MANE Select	NP_000129.3:n.1468+4C>T