Canonical Allele Identifier: CA10646193

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316359
• ClinVar RCV Id: RCV000299407 ; RCV000334470 ; RCV000352121 ; RCV000358957 ; RCV000390095 ; RCV000398379 ; RCV000394300
• dbSNP Id: rs363849
• gnomAD v2: 15-48703130-T-C
• gnomAD v3: 15-48410933-T-C
• gnomAD v4: 15-48410933-T-C
• MyVariant Identifiers: chr15:g.48703130T>C (hg19) ; chr15:g.48410933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410933T>C , CM000677.2:g.48410933T>C	GRCh38
NC_000015.9:g.48703130T>C , CM000677.1:g.48703130T>C	GRCh37
NC_000015.8:g.46490422T>C	NCBI36
NG_008805.2:g.239856A>G , LRG_778:g.239856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1481A>G	ENSP00000453958.2:n.*1481A>G
ENST00000682158.1:n.2054A>G
ENST00000682170.1:n.2854A>G
ENST00000682767.1:n.1970A>G
ENST00000316623.10:c.*57A>G MANE Select	ENSP00000325527.5:n.*57A>G
ENST00000316623.9:c.*57A>G	ENSP00000325527.5:n.*57A>G
ENST00000559133.5:c.4042A>G
NM_000138.4:c.*57A>G , LRG_778t1:c.*57A>G	NP_000129.3:n.*57A>G
NM_000138.5:c.*57A>G MANE Select	NP_000129.3:n.*57A>G