Canonical Allele Identifier: CA16614786

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406317
• ClinVar RCV Id: RCV000465552 ; RCV002393094
• dbSNP Id: rs1060501055
• MyVariant Identifiers: chr15:g.48714194A>C (hg19) ; chr15:g.48421997A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421997A>C , CM000677.2:g.48421997A>C	GRCh38
NC_000015.9:g.48714194A>C , CM000677.1:g.48714194A>C	GRCh37
NC_000015.8:g.46501486A>C	NCBI36
NG_008805.2:g.228792T>G , LRG_778:g.228792T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*333T>G	ENSP00000453958.2:n.*333T>G
ENST00000674301.2:c.*1038T>G	ENSP00000501333.2:n.*1038T>G
ENST00000682170.1:n.1706T>G
ENST00000682767.1:n.822T>G
ENST00000316623.10:c.7525T>G MANE Select	ENSP00000325527.5:p.Cys2509Gly
ENST00000674301.1:c.2691T>G	ENSP00000501333.1:n.2691T>G
ENST00000316623.9:c.7525T>G	ENSP00000325527.5:p.Cys2509Gly
ENST00000559133.5:c.2894T>G
NM_000138.4:c.7525T>G , LRG_778t1:c.7525T>G	NP_000129.3:p.Cys2509Gly
NM_000138.5:c.7525T>G MANE Select	NP_000129.3:p.Cys2509Gly