Canonical Allele Identifier: CA2575716929

Gene: FBN1

Linked Data

• gnomAD v4: 15-48448715-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448715C>A , CM000677.2:g.48448715C>A	GRCh38
NC_000015.9:g.48740912C>A , CM000677.1:g.48740912C>A	GRCh37
NC_000015.8:g.46528204C>A	NCBI36
NG_008805.2:g.202074G>T , LRG_778:g.202074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5671+53G>T	ENSP00000453958.2:n.5671+53G>T
ENST00000674301.2:c.5671+53G>T	ENSP00000501333.2:n.5671+53G>T
ENST00000684448.1:n.4345+53G>T
ENST00000316623.10:c.5671+53G>T MANE Select	ENSP00000325527.5:n.5671+53G>T
ENST00000674301.1:c.670+53G>T	ENSP00000501333.1:n.670+53G>T
ENST00000316623.9:c.5671+53G>T	ENSP00000325527.5:n.5671+53G>T
ENST00000537463.6:c.*1434+53G>T	ENSP00000440294.2:n.*1434+53G>T
ENST00000559133.5:c.978+53G>T
NM_000138.4:c.5671+53G>T , LRG_778t1:c.5671+53G>T	NP_000129.3:n.5671+53G>T
NM_000138.5:c.5671+53G>T MANE Select	NP_000129.3:n.5671+53G>T