Canonical Allele Identifier: CA2628333945

Gene: FBN1

Linked Data

• gnomAD v4: 15-48467820-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467820G>A , CM000677.2:g.48467820G>A	GRCh38
NC_000015.9:g.48760017G>A , CM000677.1:g.48760017G>A	GRCh37
NC_000015.8:g.46547309G>A	NCBI36
NG_008805.2:g.182969C>T , LRG_778:g.182969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4747+118C>T	ENSP00000453958.2:n.4747+118C>T
ENST00000674301.2:c.4747+118C>T	ENSP00000501333.2:n.4747+118C>T
ENST00000684448.1:n.3421+118C>T
ENST00000316623.10:c.4747+118C>T MANE Select	ENSP00000325527.5:n.4747+118C>T
ENST00000316623.9:c.4747+118C>T	ENSP00000325527.5:n.4747+118C>T
ENST00000537463.6:c.*510+118C>T	ENSP00000440294.2:n.*510+118C>T
ENST00000559133.5:c.54+118C>T
NM_000138.4:c.4747+118C>T , LRG_778t1:c.4747+118C>T	NP_000129.3:n.4747+118C>T
NM_000138.5:c.4747+118C>T MANE Select	NP_000129.3:n.4747+118C>T