Canonical Allele Identifier: CA269518409

Gene: FBN1

Linked Data

• dbSNP Id: rs572619690
• gnomAD v2: 15-48701471-G-C
• gnomAD v3: 15-48409274-G-C
• gnomAD v4: 15-48409274-G-C
• MyVariant Identifiers: chr15:g.48701471G>C (hg19) ; chr15:g.48409274G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409274G>C , CM000677.2:g.48409274G>C	GRCh38
NC_000015.9:g.48701471G>C , CM000677.1:g.48701471G>C	GRCh37
NC_000015.8:g.46488763G>C	NCBI36
NG_008805.2:g.241515C>G , LRG_778:g.241515C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4513C>G
ENST00000682767.1:n.3629C>G
ENST00000316623.10:c.*1716C>G MANE Select	ENSP00000325527.5:n.*1716C>G
ENST00000316623.9:c.*1716C>G	ENSP00000325527.5:n.*1716C>G
NM_000138.4:c.*1716C>G , LRG_778t1:c.*1716C>G	NP_000129.3:n.*1716C>G
NM_000138.5:c.*1716C>G MANE Select	NP_000129.3:n.*1716C>G