Canonical Allele Identifier: CA392342167

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495624
• ClinVar RCV Id: RCV000585910 ; RCV000663800
• dbSNP Id: rs1555395987
• MyVariant Identifiers: chr15:g.48741049C>T (hg19) ; chr15:g.48448852C>T (hg38)
• PubMed: PMID:19802897

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448852C>T , CM000677.2:g.48448852C>T	GRCh38
NC_000015.9:g.48741049C>T , CM000677.1:g.48741049C>T	GRCh37
NC_000015.8:g.46528341C>T	NCBI36
NG_008805.2:g.201937G>A , LRG_778:g.201937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5587G>A	ENSP00000453958.2:p.Gly1863Arg
ENST00000674301.2:c.5587G>A	ENSP00000501333.2:p.Gly1863Arg
ENST00000684448.1:n.4261G>A
ENST00000316623.10:c.5587G>A MANE Select	ENSP00000325527.5:p.Gly1863Arg
ENST00000674301.1:c.586G>A	ENSP00000501333.1:p.Gly196Arg
ENST00000316623.9:c.5587G>A	ENSP00000325527.5:p.Gly1863Arg
ENST00000537463.6:c.*1350G>A	ENSP00000440294.2:n.*1350G>A
ENST00000559133.5:c.894G>A
NM_000138.4:c.5587G>A , LRG_778t1:c.5587G>A	NP_000129.3:p.Gly1863Arg
NM_000138.5:c.5587G>A MANE Select	NP_000129.3:p.Gly1863Arg