Canonical Allele Identifier: CA017045

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42421
• ClinVar RCV Id: RCV001050817
• dbSNP Id: rs397515847
• MyVariant Identifiers: chr15:g.48719800A>G (hg19) ; chr15:g.48427603A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427603A>G , CM000677.2:g.48427603A>G	GRCh38
NC_000015.9:g.48719800A>G , CM000677.1:g.48719800A>G	GRCh37
NC_000015.8:g.46507092A>G	NCBI36
NG_008805.2:g.223186T>C , LRG_778:g.223186T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.7230T>C	ENSP00000453958.2:p.Ser2410=
ENST00000674301.2:c.*681T>C	ENSP00000501333.2:n.*681T>C
ENST00000682170.1:n.1349T>C
ENST00000682767.1:n.465T>C
ENST00000316623.10:c.7168T>C MANE Select	ENSP00000325527.5:p.Cys2390Arg
ENST00000674301.1:c.2334T>C	ENSP00000501333.1:n.2334T>C
ENST00000316623.9:c.7168T>C	ENSP00000325527.5:p.Cys2390Arg
ENST00000559133.5:c.2537T>C
NM_000138.4:c.7168T>C , LRG_778t1:c.7168T>C	NP_000129.3:p.Cys2390Arg
NM_000138.5:c.7168T>C MANE Select	NP_000129.3:p.Cys2390Arg