Canonical Allele Identifier: CA2175497525

Gene: FBN1

Linked Data

• dbSNP Id: rs2042994775
• gnomAD v4: 15-48428138-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428138G>A , CM000677.2:g.48428138G>A	GRCh38
NC_000015.9:g.48720335G>A , CM000677.1:g.48720335G>A	GRCh37
NC_000015.8:g.46507627G>A	NCBI36
NG_008805.2:g.222651C>T , LRG_778:g.222651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-195C>T	ENSP00000453958.2:n.6998-195C>T
ENST00000674301.2:c.*449-195C>T	ENSP00000501333.2:n.*449-195C>T
ENST00000682170.1:n.814C>T
ENST00000682767.1:n.233-195C>T
ENST00000316623.10:c.6997+208C>T MANE Select	ENSP00000325527.5:n.6997+208C>T
ENST00000674301.1:c.2102-195C>T	ENSP00000501333.1:n.2102-195C>T
ENST00000316623.9:c.6997+208C>T	ENSP00000325527.5:n.6997+208C>T
ENST00000559133.5:c.2305-195C>T
ENST00000560720.1:n.492C>T
NM_000138.4:c.6997+208C>T , LRG_778t1:c.6997+208C>T	NP_000129.3:n.6997+208C>T
NM_000138.5:c.6997+208C>T MANE Select	NP_000129.3:n.6997+208C>T