Canonical Allele Identifier: CA392322644

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549450
• ClinVar RCV Id: RCV000664007
• dbSNP Id: rs1555393831
• MyVariant Identifiers: chr15:g.48707769C>G (hg19) ; chr15:g.48415572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415572C>G , CM000677.2:g.48415572C>G	GRCh38
NC_000015.9:g.48707769C>G , CM000677.1:g.48707769C>G	GRCh37
NC_000015.8:g.46495061C>G	NCBI36
NG_008805.2:g.235217G>C , LRG_778:g.235217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*823G>C	ENSP00000453958.2:n.*823G>C
ENST00000674301.2:c.*1528G>C	ENSP00000501333.2:n.*1528G>C
ENST00000682158.1:n.1396G>C
ENST00000682170.1:n.2196G>C
ENST00000682767.1:n.1312G>C
ENST00000316623.10:c.8015G>C MANE Select	ENSP00000325527.5:p.Cys2672Ser
ENST00000674301.1:c.3181G>C	ENSP00000501333.1:n.3181G>C
ENST00000316623.9:c.8015G>C	ENSP00000325527.5:p.Cys2672Ser
ENST00000559133.5:c.3384G>C
ENST00000561429.1:n.270G>C
NM_000138.4:c.8015G>C , LRG_778t1:c.8015G>C	NP_000129.3:p.Cys2672Ser
NM_000138.5:c.8015G>C MANE Select	NP_000129.3:p.Cys2672Ser