Canonical Allele Identifier: CA049010

Gene: FBN1

Linked Data

• ClinVar Variation Id: 508447
• ClinVar RCV Id: RCV000632020 ; RCV001704741 ; RCV002438563 ; RCV004002505
• dbSNP Id: rs762989672
• ExAC: 15:48784653 T / C
• gnomAD v2: 15-48784653-T-C
• gnomAD v3: 15-48492456-T-C
• gnomAD v4: 15-48492456-T-C
• MyVariant Identifiers: chr15:g.48784653T>C (hg19) ; chr15:g.48492456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492456T>C , CM000677.2:g.48492456T>C	GRCh38
NC_000015.9:g.48784653T>C , CM000677.1:g.48784653T>C	GRCh37
NC_000015.8:g.46571945T>C	NCBI36
NG_008805.2:g.158333A>G , LRG_778:g.158333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+5A>G	ENSP00000453958.2:n.2854+5A>G
ENST00000674301.2:c.2854+5A>G	ENSP00000501333.2:n.2854+5A>G
ENST00000684448.1:n.1528+5A>G
ENST00000316623.10:c.2854+5A>G MANE Select	ENSP00000325527.5:n.2854+5A>G
ENST00000316623.9:c.2854+5A>G	ENSP00000325527.5:n.2854+5A>G
ENST00000537463.6:c.637-17806A>G	ENSP00000440294.2:n.637-17806A>G
NM_000138.4:c.2854+5A>G , LRG_778t1:c.2854+5A>G	NP_000129.3:n.2854+5A>G
NM_000138.5:c.2854+5A>G MANE Select	NP_000129.3:n.2854+5A>G