Canonical Allele Identifier: CA058054

Gene: FBN1

Linked Data

• ClinVar Variation Id: 444339
• ClinVar RCV Id: RCV000513468 ; RCV001087524 ; RCV000780263 ; RCV004535650
• dbSNP Id: rs371763964
• ExAC: 15:48719757 G / C
• gnomAD v2: 15-48719757-G-C
• gnomAD v3: 15-48427560-G-C
• gnomAD v4: 15-48427560-G-C
• MyVariant Identifiers: chr15:g.48719757G>C (hg19) ; chr15:g.48427560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427560G>C , CM000677.2:g.48427560G>C	GRCh38
NC_000015.9:g.48719757G>C , CM000677.1:g.48719757G>C	GRCh37
NC_000015.8:g.46507049G>C	NCBI36
NG_008805.2:g.223229C>G , LRG_778:g.223229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*12+7C>G	ENSP00000453958.2:n.*12+7C>G
ENST00000674301.2:c.*717+7C>G	ENSP00000501333.2:n.*717+7C>G
ENST00000682170.1:n.1385+7C>G
ENST00000682767.1:n.501+7C>G
ENST00000316623.10:c.7204+7C>G MANE Select	ENSP00000325527.5:n.7204+7C>G
ENST00000674301.1:c.2370+7C>G	ENSP00000501333.1:n.2370+7C>G
ENST00000316623.9:c.7204+7C>G	ENSP00000325527.5:n.7204+7C>G
ENST00000559133.5:c.2573+7C>G
NM_000138.4:c.7204+7C>G , LRG_778t1:c.7204+7C>G	NP_000129.3:n.7204+7C>G
NM_000138.5:c.7204+7C>G MANE Select	NP_000129.3:n.7204+7C>G