Canonical Allele Identifier: CA16614406

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406333
• ClinVar RCV Id: RCV000462736 ; RCV001377060
• dbSNP Id: rs369058466
• MyVariant Identifiers: chr15:g.48726831G>C (hg19) ; chr15:g.48434634G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434634G>C , CM000677.2:g.48434634G>C	GRCh38
NC_000015.9:g.48726831G>C , CM000677.1:g.48726831G>C	GRCh37
NC_000015.8:g.46514123G>C	NCBI36
NG_008805.2:g.216155C>G , LRG_778:g.216155C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6576C>G	ENSP00000453958.2:p.Cys2192Trp
ENST00000674301.2:c.6576C>G	ENSP00000501333.2:p.Cys2192Trp
ENST00000682170.1:n.185C>G
ENST00000316623.10:c.6576C>G MANE Select	ENSP00000325527.5:p.Cys2192Trp
ENST00000674301.1:c.1575C>G	ENSP00000501333.1:p.Cys525Trp
ENST00000316623.9:c.6576C>G	ENSP00000325527.5:p.Cys2192Trp
ENST00000537463.6:c.*2339C>G	ENSP00000440294.2:n.*2339C>G
ENST00000559133.5:c.1883C>G
NM_000138.4:c.6576C>G , LRG_778t1:c.6576C>G	NP_000129.3:p.Cys2192Trp
NM_000138.5:c.6576C>G MANE Select	NP_000129.3:p.Cys2192Trp