Canonical Allele Identifier: CA059538

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2138949
• ClinVar RCV Id: RCV003050761
• dbSNP Id: rs572235795
• ExAC: 15:48704953 G / A
• gnomAD v2: 15-48704953-G-A
• gnomAD v3: 15-48412756-G-A
• gnomAD v4: 15-48412756-G-A
• MyVariant Identifiers: chr15:g.48704953G>A (hg19) ; chr15:g.48412756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412756G>A , CM000677.2:g.48412756G>A	GRCh38
NC_000015.9:g.48704953G>A , CM000677.1:g.48704953G>A	GRCh37
NC_000015.8:g.46492245G>A	NCBI36
NG_008805.2:g.238033C>T , LRG_778:g.238033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-13C>T	ENSP00000453958.2:n.*860-13C>T
ENST00000674301.2:c.*1565-13C>T	ENSP00000501333.2:n.*1565-13C>T
ENST00000682158.1:n.1433-13C>T
ENST00000682170.1:n.2233-13C>T
ENST00000682767.1:n.1349-13C>T
ENST00000316623.10:c.8052-13C>T MANE Select	ENSP00000325527.5:n.8052-13C>T
ENST00000674301.1:c.3218-13C>T	ENSP00000501333.1:n.3218-13C>T
ENST00000316623.9:c.8052-13C>T	ENSP00000325527.5:n.8052-13C>T
ENST00000559133.5:c.3421-13C>T
ENST00000561429.1:n.307-13C>T
NM_000138.4:c.8052-13C>T , LRG_778t1:c.8052-13C>T	NP_000129.3:n.8052-13C>T
NM_000138.5:c.8052-13C>T MANE Select	NP_000129.3:n.8052-13C>T