Canonical Allele Identifier: CA058735

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1804563
• ClinVar RCV Id: RCV002469864
• dbSNP Id: rs752872632
• ExAC: 15:48714196 G / A
• gnomAD v2: 15-48714196-G-A
• gnomAD v4: 15-48421999-G-A
• MyVariant Identifiers: chr15:g.48714196G>A (hg19) ; chr15:g.48421999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421999G>A , CM000677.2:g.48421999G>A	GRCh38
NC_000015.9:g.48714196G>A , CM000677.1:g.48714196G>A	GRCh37
NC_000015.8:g.46501488G>A	NCBI36
NG_008805.2:g.228790C>T , LRG_778:g.228790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*331C>T	ENSP00000453958.2:n.*331C>T
ENST00000674301.2:c.*1036C>T	ENSP00000501333.2:n.*1036C>T
ENST00000682170.1:n.1704C>T
ENST00000682767.1:n.820C>T
ENST00000316623.10:c.7523C>T MANE Select	ENSP00000325527.5:p.Thr2508Ile
ENST00000674301.1:c.2689C>T	ENSP00000501333.1:n.2689C>T
ENST00000316623.9:c.7523C>T	ENSP00000325527.5:p.Thr2508Ile
ENST00000559133.5:c.2892C>T
NM_000138.4:c.7523C>T , LRG_778t1:c.7523C>T	NP_000129.3:p.Thr2508Ile
NM_000138.5:c.7523C>T MANE Select	NP_000129.3:p.Thr2508Ile