Canonical Allele Identifier: CA392329308

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527187
• ClinVar RCV Id: RCV000631974 ; RCV000757280
• dbSNP Id: rs1206813753
• gnomAD v3: 15-48489956-A-G
• gnomAD v4: 15-48489956-A-G
• MyVariant Identifiers: chr15:g.48782153A>G (hg19) ; chr15:g.48489956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489956A>G , CM000677.2:g.48489956A>G	GRCh38
NC_000015.9:g.48782153A>G , CM000677.1:g.48782153A>G	GRCh37
NC_000015.8:g.46569445A>G	NCBI36
NG_008805.2:g.160833T>C , LRG_778:g.160833T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2977T>C	ENSP00000453958.2:p.Cys993Arg
ENST00000674301.2:c.2977T>C	ENSP00000501333.2:p.Cys993Arg
ENST00000684448.1:n.1651T>C
ENST00000316623.10:c.2977T>C MANE Select	ENSP00000325527.5:p.Cys993Arg
ENST00000316623.9:c.2977T>C	ENSP00000325527.5:p.Cys993Arg
ENST00000537463.6:c.637-15306T>C	ENSP00000440294.2:n.637-15306T>C
NM_000138.4:c.2977T>C , LRG_778t1:c.2977T>C	NP_000129.3:p.Cys993Arg
NM_000138.5:c.2977T>C MANE Select	NP_000129.3:p.Cys993Arg