Canonical Allele Identifier: CA392330876

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2024034
• ClinVar RCV Id: RCV002876000
• dbSNP Id: rs773785908
• gnomAD v2: 15-48720650-G-C
• gnomAD v4: 15-48428453-G-C
• MyVariant Identifiers: chr15:g.48720650G>C (hg19) ; chr15:g.48428453G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428453G>C , CM000677.2:g.48428453G>C	GRCh38
NC_000015.9:g.48720650G>C , CM000677.1:g.48720650G>C	GRCh37
NC_000015.8:g.46507942G>C	NCBI36
NG_008805.2:g.222336C>G , LRG_778:g.222336C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6890C>G	ENSP00000453958.2:p.Thr2297Arg
ENST00000674301.2:c.*341C>G	ENSP00000501333.2:n.*341C>G
ENST00000682170.1:n.499C>G
ENST00000682767.1:n.125C>G
ENST00000316623.10:c.6890C>G MANE Select	ENSP00000325527.5:p.Thr2297Arg
ENST00000674301.1:c.1994C>G	ENSP00000501333.1:n.1994C>G
ENST00000316623.9:c.6890C>G	ENSP00000325527.5:p.Thr2297Arg
ENST00000559133.5:c.2197C>G
ENST00000560720.1:n.177C>G
NM_000138.4:c.6890C>G , LRG_778t1:c.6890C>G	NP_000129.3:p.Thr2297Arg
NM_000138.5:c.6890C>G MANE Select	NP_000129.3:p.Thr2297Arg