Canonical Allele Identifier: CA353645

Gene: FBN1

Linked Data

• ClinVar Variation Id: 222612
• ClinVar RCV Id: RCV000208200 ; RCV000802453 ; RCV002363041
• dbSNP Id: rs869025414
• MyVariant Identifiers: chr15:g.48719827G>A (hg19) ; chr15:g.48427630G>A (hg38)
• PubMed: PMID:19293843

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427630G>A , CM000677.2:g.48427630G>A	GRCh38
NC_000015.9:g.48719827G>A , CM000677.1:g.48719827G>A	GRCh37
NC_000015.8:g.46507119G>A	NCBI36
NG_008805.2:g.223159C>T , LRG_778:g.223159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7203C>T	ENSP00000453958.2:p.Ser2401=
ENST00000674301.2:c.*654C>T	ENSP00000501333.2:n.*654C>T
ENST00000682170.1:n.1322C>T
ENST00000682767.1:n.438C>T
ENST00000316623.10:c.7141C>T MANE Select	ENSP00000325527.5:p.Gln2381Ter
ENST00000674301.1:c.2307C>T	ENSP00000501333.1:n.2307C>T
ENST00000316623.9:c.7141C>T	ENSP00000325527.5:p.Gln2381Ter
ENST00000559133.5:c.2510C>T
NM_000138.4:c.7141C>T , LRG_778t1:c.7141C>T	NP_000129.3:p.Gln2381Ter
NM_000138.5:c.7141C>T MANE Select	NP_000129.3:p.Gln2381Ter