Canonical Allele Identifier: CA392327893

Gene: FBN1

Linked Data

• ClinVar Variation Id: 664702
• ClinVar RCV Id: RCV000822852
• dbSNP Id: rs1555394406
• MyVariant Identifiers: chr15:g.48717643C>A (hg19) ; chr15:g.48425446C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425446C>A , CM000677.2:g.48425446C>A	GRCh38
NC_000015.9:g.48717643C>A , CM000677.1:g.48717643C>A	GRCh37
NC_000015.8:g.46504935C>A	NCBI36
NG_008805.2:g.225343G>T , LRG_778:g.225343G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*184G>T	ENSP00000453958.2:n.*184G>T
ENST00000674301.2:c.*889G>T	ENSP00000501333.2:n.*889G>T
ENST00000682170.1:n.1557G>T
ENST00000682767.1:n.673G>T
ENST00000316623.10:c.7376G>T MANE Select	ENSP00000325527.5:p.Cys2459Phe
ENST00000674301.1:c.2542G>T	ENSP00000501333.1:n.2542G>T
ENST00000316623.9:c.7376G>T	ENSP00000325527.5:p.Cys2459Phe
ENST00000559133.5:c.2745G>T
NM_000138.4:c.7376G>T , LRG_778t1:c.7376G>T	NP_000129.3:p.Cys2459Phe
NM_000138.5:c.7376G>T MANE Select	NP_000129.3:p.Cys2459Phe