Canonical Allele Identifier: CA053686

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527228
• ClinVar RCV Id: RCV000632055 ; RCV004003823
• dbSNP Id: rs760640909
• ExAC: 15:48758064 A / G
• gnomAD v2: 15-48758064-A-G
• gnomAD v3: 15-48465867-A-G
• gnomAD v4: 15-48465867-A-G
• MyVariant Identifiers: chr15:g.48758064A>G (hg19) ; chr15:g.48465867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48465867A>G , CM000677.2:g.48465867A>G	GRCh38
NC_000015.9:g.48758064A>G , CM000677.1:g.48758064A>G	GRCh37
NC_000015.8:g.46545356A>G	NCBI36
NG_008805.2:g.184922T>C , LRG_778:g.184922T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4748-9T>C	ENSP00000453958.2:n.4748-9T>C
ENST00000674301.2:c.4748-9T>C	ENSP00000501333.2:n.4748-9T>C
ENST00000684448.1:n.3422-9T>C
ENST00000316623.10:c.4748-9T>C MANE Select	ENSP00000325527.5:n.4748-9T>C
ENST00000316623.9:c.4748-9T>C	ENSP00000325527.5:n.4748-9T>C
ENST00000537463.6:c.*511-9T>C	ENSP00000440294.2:n.*511-9T>C
ENST00000559133.5:c.55-9T>C
NM_000138.4:c.4748-9T>C , LRG_778t1:c.4748-9T>C	NP_000129.3:n.4748-9T>C
NM_000138.5:c.4748-9T>C MANE Select	NP_000129.3:n.4748-9T>C