Canonical Allele Identifier: CA713391566

Gene: FBN1

Linked Data

• dbSNP Id: rs3929051
• gnomAD v3: 15-48428074-C-A
• gnomAD v4: 15-48428074-C-A
• MyVariant Identifiers: chr15:g.48720271C>A (hg19) ; chr15:g.48428074C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428074C>A , CM000677.2:g.48428074C>A	GRCh38
NC_000015.9:g.48720271C>A , CM000677.1:g.48720271C>A	GRCh37
NC_000015.8:g.46507563C>A	NCBI36
NG_008805.2:g.222715G>T , LRG_778:g.222715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-131G>T	ENSP00000453958.2:n.6998-131G>T
ENST00000674301.2:c.*449-131G>T	ENSP00000501333.2:n.*449-131G>T
ENST00000682170.1:n.878G>T
ENST00000682767.1:n.233-131G>T
ENST00000316623.10:c.6997+272G>T MANE Select	ENSP00000325527.5:n.6997+272G>T
ENST00000674301.1:c.2102-131G>T	ENSP00000501333.1:n.2102-131G>T
ENST00000316623.9:c.6997+272G>T	ENSP00000325527.5:n.6997+272G>T
ENST00000559133.5:c.2305-131G>T
ENST00000560720.1:n.556G>T
NM_000138.4:c.6997+272G>T , LRG_778t1:c.6997+272G>T	NP_000129.3:n.6997+272G>T
NM_000138.5:c.6997+272G>T MANE Select	NP_000129.3:n.6997+272G>T