Canonical Allele Identifier: CA059542

Gene: FBN1

Linked Data

• dbSNP Id: rs373314776
• ExAC: 15:48704954 G / A
• gnomAD v2: 15-48704954-G-A
• gnomAD v4: 15-48412757-G-A
• MyVariant Identifiers: chr15:g.48704954G>A (hg19) ; chr15:g.48412757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412757G>A , CM000677.2:g.48412757G>A	GRCh38
NC_000015.9:g.48704954G>A , CM000677.1:g.48704954G>A	GRCh37
NC_000015.8:g.46492246G>A	NCBI36
NG_008805.2:g.238032C>T , LRG_778:g.238032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-14C>T	ENSP00000453958.2:n.*860-14C>T
ENST00000674301.2:c.*1565-14C>T	ENSP00000501333.2:n.*1565-14C>T
ENST00000682158.1:n.1433-14C>T
ENST00000682170.1:n.2233-14C>T
ENST00000682767.1:n.1349-14C>T
ENST00000316623.10:c.8052-14C>T MANE Select	ENSP00000325527.5:n.8052-14C>T
ENST00000674301.1:c.3218-14C>T	ENSP00000501333.1:n.3218-14C>T
ENST00000316623.9:c.8052-14C>T	ENSP00000325527.5:n.8052-14C>T
ENST00000559133.5:c.3421-14C>T
ENST00000561429.1:n.307-14C>T
NM_000138.4:c.8052-14C>T , LRG_778t1:c.8052-14C>T	NP_000129.3:n.8052-14C>T
NM_000138.5:c.8052-14C>T MANE Select	NP_000129.3:n.8052-14C>T