Canonical Allele Identifier: CA016480

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200085
• ClinVar RCV Id: RCV000181568 ; RCV000796054 ; RCV001181845
• dbSNP Id: rs794728250
• gnomAD v4: 15-48437008-C-A
• MyVariant Identifiers: chr15:g.48729205C>A (hg19) ; chr15:g.48437008C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437008C>A , CM000677.2:g.48437008C>A	GRCh38
NC_000015.9:g.48729205C>A , CM000677.1:g.48729205C>A	GRCh37
NC_000015.8:g.46516497C>A	NCBI36
NG_008805.2:g.213781G>T , LRG_778:g.213781G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6449G>T	ENSP00000453958.2:p.Arg2150Leu
ENST00000674301.2:c.6449G>T	ENSP00000501333.2:p.Arg2150Leu
ENST00000682170.1:n.58G>T
ENST00000316623.10:c.6449G>T MANE Select	ENSP00000325527.5:p.Arg2150Leu
ENST00000674301.1:c.1448G>T	ENSP00000501333.1:p.Arg483Leu
ENST00000316623.9:c.6449G>T	ENSP00000325527.5:p.Arg2150Leu
ENST00000537463.6:c.*2212G>T	ENSP00000440294.2:n.*2212G>T
ENST00000559133.5:c.1756G>T
NM_000138.4:c.6449G>T , LRG_778t1:c.6449G>T	NP_000129.3:p.Arg2150Leu
NM_000138.5:c.6449G>T MANE Select	NP_000129.3:p.Arg2150Leu