Canonical Allele Identifier: CA392330530

Gene: FBN1

Linked Data

• dbSNP Id: rs1242918540
• gnomAD v2: 15-48720572-G-A
• gnomAD v4: 15-48428375-G-A
• MyVariant Identifiers: chr15:g.48720572G>A (hg19) ; chr15:g.48428375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428375G>A , CM000677.2:g.48428375G>A	GRCh38
NC_000015.9:g.48720572G>A , CM000677.1:g.48720572G>A	GRCh37
NC_000015.8:g.46507864G>A	NCBI36
NG_008805.2:g.222414C>T , LRG_778:g.222414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6968C>T	ENSP00000453958.2:p.Thr2323Ile
ENST00000674301.2:c.*419C>T	ENSP00000501333.2:n.*419C>T
ENST00000682170.1:n.577C>T
ENST00000682767.1:n.203C>T
ENST00000316623.10:c.6968C>T MANE Select	ENSP00000325527.5:p.Thr2323Ile
ENST00000674301.1:c.2072C>T	ENSP00000501333.1:n.2072C>T
ENST00000316623.9:c.6968C>T	ENSP00000325527.5:p.Thr2323Ile
ENST00000559133.5:c.2275C>T
ENST00000560720.1:n.255C>T
NM_000138.4:c.6968C>T , LRG_778t1:c.6968C>T	NP_000129.3:p.Thr2323Ile
NM_000138.5:c.6968C>T MANE Select	NP_000129.3:p.Thr2323Ile