Canonical Allele Identifier: CA269520797

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519729
• ClinVar RCV Id: RCV000693611 ; RCV000769622 ; RCV000663940
• dbSNP Id: rs112550005
• COSMIC: COSM1373253
• MyVariant Identifiers: chr15:g.48718026G>A (hg19) ; chr15:g.48425829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425829G>A , CM000677.2:g.48425829G>A	GRCh38
NC_000015.9:g.48718026G>A , CM000677.1:g.48718026G>A	GRCh37
NC_000015.8:g.46505318G>A	NCBI36
NG_008805.2:g.224960C>T , LRG_778:g.224960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*48C>T	ENSP00000453958.2:n.*48C>T
ENST00000674301.2:c.*753C>T	ENSP00000501333.2:n.*753C>T
ENST00000682170.1:n.1421C>T
ENST00000682767.1:n.537C>T
ENST00000316623.10:c.7240C>T MANE Select	ENSP00000325527.5:p.Arg2414Ter
ENST00000674301.1:c.2406C>T	ENSP00000501333.1:n.2406C>T
ENST00000316623.9:c.7240C>T	ENSP00000325527.5:p.Arg2414Ter
ENST00000559133.5:c.2609C>T
NM_000138.4:c.7240C>T , LRG_778t1:c.7240C>T	NP_000129.3:p.Arg2414Ter
NM_000138.5:c.7240C>T MANE Select	NP_000129.3:p.Arg2414Ter