Canonical Allele Identifier: CA392327946

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527210
• ClinVar RCV Id: RCV000632017
• dbSNP Id: rs1555394408
• MyVariant Identifiers: chr15:g.48717654G>C (hg19) ; chr15:g.48425457G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425457G>C , CM000677.2:g.48425457G>C	GRCh38
NC_000015.9:g.48717654G>C , CM000677.1:g.48717654G>C	GRCh37
NC_000015.8:g.46504946G>C	NCBI36
NG_008805.2:g.225332C>G , LRG_778:g.225332C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*173C>G	ENSP00000453958.2:n.*173C>G
ENST00000674301.2:c.*878C>G	ENSP00000501333.2:n.*878C>G
ENST00000682170.1:n.1546C>G
ENST00000682767.1:n.662C>G
ENST00000316623.10:c.7365C>G MANE Select	ENSP00000325527.5:p.Cys2455Trp
ENST00000674301.1:c.2531C>G	ENSP00000501333.1:n.2531C>G
ENST00000316623.9:c.7365C>G	ENSP00000325527.5:p.Cys2455Trp
ENST00000559133.5:c.2734C>G
NM_000138.4:c.7365C>G , LRG_778t1:c.7365C>G	NP_000129.3:p.Cys2455Trp
NM_000138.5:c.7365C>G MANE Select	NP_000129.3:p.Cys2455Trp