Canonical Allele Identifier: CA2628324901

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410738-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410738C>A , CM000677.2:g.48410738C>A	GRCh38
NC_000015.9:g.48702935C>A , CM000677.1:g.48702935C>A	GRCh37
NC_000015.8:g.46490227C>A	NCBI36
NG_008805.2:g.240051G>T , LRG_778:g.240051G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1676G>T	ENSP00000453958.2:n.*1676G>T
ENST00000682158.1:n.2249G>T
ENST00000682170.1:n.3049G>T
ENST00000682767.1:n.2165G>T
ENST00000316623.10:c.*252G>T MANE Select	ENSP00000325527.5:n.*252G>T
ENST00000316623.9:c.*252G>T	ENSP00000325527.5:n.*252G>T
ENST00000559133.5:c.4237G>T
NM_000138.4:c.*252G>T , LRG_778t1:c.*252G>T	NP_000129.3:n.*252G>T
NM_000138.5:c.*252G>T MANE Select	NP_000129.3:n.*252G>T