Canonical Allele Identifier: CA490017934

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2773324
• ClinVar RCV Id: RCV003528007
• MyVariant Identifiers: chr15:g.48720649C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428452C>G , CM000677.2:g.48428452C>G	GRCh38
NC_000015.9:g.48720649C>G , CM000677.1:g.48720649C>G	GRCh37
NC_000015.8:g.46507941C>G	NCBI36
NG_008805.2:g.222337G>C , LRG_778:g.222337G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6891G>C	ENSP00000453958.2:p.Thr2297=
ENST00000674301.2:c.*342G>C	ENSP00000501333.2:n.*342G>C
ENST00000682170.1:n.500G>C
ENST00000682767.1:n.126G>C
ENST00000316623.10:c.6891G>C MANE Select	ENSP00000325527.5:p.Thr2297=
ENST00000674301.1:c.1995G>C	ENSP00000501333.1:n.1995G>C
ENST00000316623.9:c.6891G>C	ENSP00000325527.5:p.Thr2297=
ENST00000559133.5:c.2198G>C
ENST00000560720.1:n.178G>C
NM_000138.4:c.6891G>C , LRG_778t1:c.6891G>C	NP_000129.3:p.Thr2297=
NM_000138.5:c.6891G>C MANE Select	NP_000129.3:p.Thr2297=