Canonical Allele Identifier: CA059959

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3070143
• ClinVar RCV Id: RCV004010175
• dbSNP Id: rs143007898
• ExAC: 15:48703440 G / C
• gnomAD v2: 15-48703440-G-C
• gnomAD v4: 15-48411243-G-C
• MyVariant Identifiers: chr15:g.48703440G>C (hg19) ; chr15:g.48411243G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411243G>C , CM000677.2:g.48411243G>C	GRCh38
NC_000015.9:g.48703440G>C , CM000677.1:g.48703440G>C	GRCh37
NC_000015.8:g.46490732G>C	NCBI36
NG_008805.2:g.239546C>G , LRG_778:g.239546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1171C>G	ENSP00000453958.2:n.*1171C>G
ENST00000674301.2:c.*1876C>G	ENSP00000501333.2:n.*1876C>G
ENST00000682158.1:n.1744C>G
ENST00000682170.1:n.2544C>G
ENST00000682767.1:n.1660C>G
ENST00000316623.10:c.8363C>G MANE Select	ENSP00000325527.5:p.Thr2788Arg
ENST00000674301.1:c.3529C>G	ENSP00000501333.1:n.3529C>G
ENST00000316623.9:c.8363C>G	ENSP00000325527.5:p.Thr2788Arg
ENST00000559133.5:c.3732C>G
ENST00000561429.1:n.618C>G
NM_000138.4:c.8363C>G , LRG_778t1:c.8363C>G	NP_000129.3:p.Thr2788Arg
NM_000138.5:c.8363C>G MANE Select	NP_000129.3:p.Thr2788Arg