Canonical Allele Identifier: CA015134

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200047
• ClinVar RCV Id: RCV000181523 ; RCV000659544 ; RCV001178818 ; RCV001312619 ; RCV002485195 ; RCV003996689
• dbSNP Id: rs761187818
• ExAC: 15:48760699 T / C
• gnomAD v2: 15-48760699-T-C
• gnomAD v3: 15-48468502-T-C
• gnomAD v4: 15-48468502-T-C
• MyVariant Identifiers: chr15:g.48760699T>C (hg19) ; chr15:g.48468502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468502T>C , CM000677.2:g.48468502T>C	GRCh38
NC_000015.9:g.48760699T>C , CM000677.1:g.48760699T>C	GRCh37
NC_000015.8:g.46547991T>C	NCBI36
NG_008805.2:g.182287A>G , LRG_778:g.182287A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4492A>G	ENSP00000453958.2:p.Ile1498Val
ENST00000674301.2:c.4492A>G	ENSP00000501333.2:p.Ile1498Val
ENST00000684448.1:n.3166A>G
ENST00000316623.10:c.4492A>G MANE Select	ENSP00000325527.5:p.Ile1498Val
ENST00000316623.9:c.4492A>G	ENSP00000325527.5:p.Ile1498Val
ENST00000537463.6:c.*255A>G	ENSP00000440294.2:n.*255A>G
NM_000138.4:c.4492A>G , LRG_778t1:c.4492A>G	NP_000129.3:p.Ile1498Val
NM_000138.5:c.4492A>G MANE Select	NP_000129.3:p.Ile1498Val