Canonical Allele Identifier: CA350431

Gene: FBN1

Linked Data

• ClinVar Variation Id: 221117
• ClinVar RCV Id: RCV001378775
• dbSNP Id: rs864622754
• MyVariant Identifiers: chr15:g.48719799C>T (hg19) ; chr15:g.48427602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427602C>T , CM000677.2:g.48427602C>T	GRCh38
NC_000015.9:g.48719799C>T , CM000677.1:g.48719799C>T	GRCh37
NC_000015.8:g.46507091C>T	NCBI36
NG_008805.2:g.223187G>A , LRG_778:g.223187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7231G>A	ENSP00000453958.2:p.Val2411Ile
ENST00000674301.2:c.*682G>A	ENSP00000501333.2:n.*682G>A
ENST00000682170.1:n.1350G>A
ENST00000682767.1:n.466G>A
ENST00000316623.10:c.7169G>A MANE Select	ENSP00000325527.5:p.Cys2390Tyr
ENST00000674301.1:c.2335G>A	ENSP00000501333.1:n.2335G>A
ENST00000316623.9:c.7169G>A	ENSP00000325527.5:p.Cys2390Tyr
ENST00000559133.5:c.2538G>A
NM_000138.4:c.7169G>A , LRG_778t1:c.7169G>A	NP_000129.3:p.Cys2390Tyr
NM_000138.5:c.7169G>A MANE Select	NP_000129.3:p.Cys2390Tyr