Canonical Allele Identifier: CA392327719

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1304014
• ClinVar RCV Id: RCV001758307
• dbSNP Id: rs2141226281
• MyVariant Identifiers: chr15:g.48717599A>C (hg19) ; chr15:g.48425402A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425402A>C , CM000677.2:g.48425402A>C	GRCh38
NC_000015.9:g.48717599A>C , CM000677.1:g.48717599A>C	GRCh37
NC_000015.8:g.46504891A>C	NCBI36
NG_008805.2:g.225387T>G , LRG_778:g.225387T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*228T>G	ENSP00000453958.2:n.*228T>G
ENST00000674301.2:c.*933T>G	ENSP00000501333.2:n.*933T>G
ENST00000682170.1:n.1601T>G
ENST00000682767.1:n.717T>G
ENST00000316623.10:c.7420T>G MANE Select	ENSP00000325527.5:p.Tyr2474Asp
ENST00000674301.1:c.2586T>G	ENSP00000501333.1:n.2586T>G
ENST00000316623.9:c.7420T>G	ENSP00000325527.5:p.Tyr2474Asp
ENST00000559133.5:c.2789T>G
NM_000138.4:c.7420T>G , LRG_778t1:c.7420T>G	NP_000129.3:p.Tyr2474Asp
NM_000138.5:c.7420T>G MANE Select	NP_000129.3:p.Tyr2474Asp