Canonical Allele Identifier: CA2628329557

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421803-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421803C>A , CM000677.2:g.48421803C>A	GRCh38
NC_000015.9:g.48714000C>A , CM000677.1:g.48714000C>A	GRCh37
NC_000015.8:g.46501292C>A	NCBI36
NG_008805.2:g.228986G>T , LRG_778:g.228986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-117G>T	ENSP00000453958.2:n.*379-117G>T
ENST00000674301.2:c.*1084-117G>T	ENSP00000501333.2:n.*1084-117G>T
ENST00000682170.1:n.1752-117G>T
ENST00000682767.1:n.868-117G>T
ENST00000316623.10:c.7571-117G>T MANE Select	ENSP00000325527.5:n.7571-117G>T
ENST00000674301.1:c.2737-117G>T	ENSP00000501333.1:n.2737-117G>T
ENST00000316623.9:c.7571-117G>T	ENSP00000325527.5:n.7571-117G>T
ENST00000559133.5:c.2940-117G>T
NM_000138.4:c.7571-117G>T , LRG_778t1:c.7571-117G>T	NP_000129.3:n.7571-117G>T
NM_000138.5:c.7571-117G>T MANE Select	NP_000129.3:n.7571-117G>T