Canonical Allele Identifier: CA490015957

Gene: FBN1

Linked Data

• ClinVar Variation Id: 507756
• ClinVar RCV Id: RCV000608058
• dbSNP Id: rs1555394248
• MyVariant Identifiers: chr15:g.48714246G>C (hg19) ; chr15:g.48422049G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422049G>C , CM000677.2:g.48422049G>C	GRCh38
NC_000015.9:g.48714246G>C , CM000677.1:g.48714246G>C	GRCh37
NC_000015.8:g.46501538G>C	NCBI36
NG_008805.2:g.228740C>G , LRG_778:g.228740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*281C>G	ENSP00000453958.2:n.*281C>G
ENST00000674301.2:c.*986C>G	ENSP00000501333.2:n.*986C>G
ENST00000682170.1:n.1654C>G
ENST00000682767.1:n.770C>G
ENST00000316623.10:c.7473C>G MANE Select	ENSP00000325527.5:p.Thr2491=
ENST00000674301.1:c.2639C>G	ENSP00000501333.1:n.2639C>G
ENST00000316623.9:c.7473C>G	ENSP00000325527.5:p.Thr2491=
ENST00000559133.5:c.2842C>G
NM_000138.4:c.7473C>G , LRG_778t1:c.7473C>G	NP_000129.3:p.Thr2491=
NM_000138.5:c.7473C>G MANE Select	NP_000129.3:p.Thr2491=