Canonical Allele Identifier: CA044257

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519712
• ClinVar RCV Id: RCV000772653 ; RCV001002368 ; RCV001868121 ; RCV003322795
• dbSNP Id: rs568810058
• ExAC: 15:48808391 C / T
• gnomAD v2: 15-48808391-C-T
• gnomAD v3: 15-48516194-C-T
• gnomAD v4: 15-48516194-C-T
• MyVariant Identifiers: chr15:g.48808391C>T (hg19) ; chr15:g.48516194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48516194C>T , CM000677.2:g.48516194C>T	GRCh38
NC_000015.9:g.48808391C>T , CM000677.1:g.48808391C>T	GRCh37
NC_000015.8:g.46595683C>T	NCBI36
NG_008805.2:g.134595G>A , LRG_778:g.134595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1316G>A	ENSP00000453958.2:p.Arg439Gln
ENST00000674301.2:c.1316G>A	ENSP00000501333.2:p.Arg439Gln
ENST00000316623.10:c.1316G>A MANE Select	ENSP00000325527.5:p.Arg439Gln
ENST00000316623.9:c.1316G>A	ENSP00000325527.5:p.Arg439Gln
ENST00000537463.6:c.636+21517G>A	ENSP00000440294.2:n.636+21517G>A
NM_000138.4:c.1316G>A , LRG_778t1:c.1316G>A	NP_000129.3:p.Arg439Gln
NM_000138.5:c.1316G>A MANE Select	NP_000129.3:p.Arg439Gln