Canonical Allele Identifier: CA392446996

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1211251
• ClinVar RCV Id: RCV001587729 ; RCV002501940 ; RCV003771767
• dbSNP Id: rs1314594090
• gnomAD v3: 15-48610777-C-T
• gnomAD v4: 15-48610777-C-T
• COSMIC: COSM3969140
• MyVariant Identifiers: chr15:g.48902974C>T (hg19) ; chr15:g.48610777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610777C>T , CM000677.2:g.48610777C>T	GRCh38
NC_000015.9:g.48902974C>T , CM000677.1:g.48902974C>T	GRCh37
NC_000015.8:g.46690266C>T	NCBI36
NG_008805.2:g.40012G>A , LRG_778:g.40012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.297G>A	ENSP00000453958.2:p.Met99Ile
ENST00000674301.2:c.297G>A	ENSP00000501333.2:p.Met99Ile
ENST00000316623.10:c.297G>A MANE Select	ENSP00000325527.5:p.Met99Ile
ENST00000316623.9:c.297G>A	ENSP00000325527.5:p.Met99Ile
ENST00000537463.6:c.297G>A	ENSP00000440294.2:p.Met99Ile
NM_000138.4:c.297G>A , LRG_778t1:c.297G>A	NP_000129.3:p.Met99Ile
NM_000138.5:c.297G>A MANE Select	NP_000129.3:p.Met99Ile