Canonical Allele Identifier: CA392318745

Gene: FBN1

Linked Data

• ClinVar Variation Id: 915543
• ClinVar RCV Id: RCV001170295
• dbSNP Id: rs2042857475
• MyVariant Identifiers: chr15:g.48703293T>C (hg19) ; chr15:g.48411096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411096T>C , CM000677.2:g.48411096T>C	GRCh38
NC_000015.9:g.48703293T>C , CM000677.1:g.48703293T>C	GRCh37
NC_000015.8:g.46490585T>C	NCBI36
NG_008805.2:g.239693A>G , LRG_778:g.239693A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1318A>G	ENSP00000453958.2:n.*1318A>G
ENST00000674301.2:c.*2023A>G	ENSP00000501333.2:n.*2023A>G
ENST00000682158.1:n.1891A>G
ENST00000682170.1:n.2691A>G
ENST00000682767.1:n.1807A>G
ENST00000316623.10:c.8510A>G MANE Select	ENSP00000325527.5:p.Tyr2837Cys
ENST00000674301.1:c.3676A>G	ENSP00000501333.1:n.3676A>G
ENST00000316623.9:c.8510A>G	ENSP00000325527.5:p.Tyr2837Cys
ENST00000559133.5:c.3879A>G
NM_000138.4:c.8510A>G , LRG_778t1:c.8510A>G	NP_000129.3:p.Tyr2837Cys
NM_000138.5:c.8510A>G MANE Select	NP_000129.3:p.Tyr2837Cys