Canonical Allele Identifier: CA012355

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36034
• ClinVar RCV Id: RCV000029694 ; RCV000822174 ; RCV001508390 ; RCV003223337
• dbSNP Id: rs193922179
• gnomAD v2: 15-48802321-C-T
• gnomAD v3: 15-48510124-C-T
• gnomAD v4: 15-48510124-C-T
• COSMIC: COSM5451355
• MyVariant Identifiers: chr15:g.48802321C>T (hg19) ; chr15:g.48510124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510124C>T , CM000677.2:g.48510124C>T	GRCh38
NC_000015.9:g.48802321C>T , CM000677.1:g.48802321C>T	GRCh37
NC_000015.8:g.46589613C>T	NCBI36
NG_008805.2:g.140665G>A , LRG_778:g.140665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1634G>A	ENSP00000453958.2:p.Arg545His
ENST00000674301.2:c.1634G>A	ENSP00000501333.2:p.Arg545His
ENST00000684448.1:n.308G>A
ENST00000316623.10:c.1634G>A MANE Select	ENSP00000325527.5:p.Arg545His
ENST00000316623.9:c.1634G>A	ENSP00000325527.5:p.Arg545His
ENST00000537463.6:c.636+27587G>A	ENSP00000440294.2:n.636+27587G>A
NM_000138.4:c.1634G>A , LRG_778t1:c.1634G>A	NP_000129.3:p.Arg545His
NM_000138.5:c.1634G>A MANE Select	NP_000129.3:p.Arg545His