Canonical Allele Identifier: CA269521910

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1205256
• ClinVar RCV Id: RCV001571868
• dbSNP Id: rs559172589
• gnomAD v2: 15-48720761-C-T
• gnomAD v3: 15-48428564-C-T
• gnomAD v4: 15-48428564-C-T
• MyVariant Identifiers: chr15:g.48720761C>T (hg19) ; chr15:g.48428564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428564C>T , CM000677.2:g.48428564C>T	GRCh38
NC_000015.9:g.48720761C>T , CM000677.1:g.48720761C>T	GRCh37
NC_000015.8:g.46508053C>T	NCBI36
NG_008805.2:g.222225G>A , LRG_778:g.222225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-93G>A	ENSP00000453958.2:n.6872-93G>A
ENST00000674301.2:c.*323-93G>A	ENSP00000501333.2:n.*323-93G>A
ENST00000682170.1:n.481-93G>A
ENST00000682767.1:n.14G>A
ENST00000316623.10:c.6872-93G>A MANE Select	ENSP00000325527.5:n.6872-93G>A
ENST00000674301.1:c.1976-93G>A	ENSP00000501333.1:n.1976-93G>A
ENST00000316623.9:c.6872-93G>A	ENSP00000325527.5:n.6872-93G>A
ENST00000559133.5:c.2179-93G>A
ENST00000560720.1:n.159-93G>A
NM_000138.4:c.6872-93G>A , LRG_778t1:c.6872-93G>A	NP_000129.3:n.6872-93G>A
NM_000138.5:c.6872-93G>A MANE Select	NP_000129.3:n.6872-93G>A