Canonical Allele Identifier: CA490119036

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1551972
• ClinVar RCV Id: RCV002178087 ; RCV003161380
• dbSNP Id: rs2141210112
• gnomAD v4: 15-48411350-A-G
• MyVariant Identifiers: chr15:g.48703547A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411350A>G , CM000677.2:g.48411350A>G	GRCh38
NC_000015.9:g.48703547A>G , CM000677.1:g.48703547A>G	GRCh37
NC_000015.8:g.46490839A>G	NCBI36
NG_008805.2:g.239439T>C , LRG_778:g.239439T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1064T>C	ENSP00000453958.2:n.*1064T>C
ENST00000674301.2:c.*1769T>C	ENSP00000501333.2:n.*1769T>C
ENST00000682158.1:n.1637T>C
ENST00000682170.1:n.2437T>C
ENST00000682767.1:n.1553T>C
ENST00000316623.10:c.8256T>C MANE Select	ENSP00000325527.5:p.Ser2752=
ENST00000674301.1:c.3422T>C	ENSP00000501333.1:n.3422T>C
ENST00000316623.9:c.8256T>C	ENSP00000325527.5:p.Ser2752=
ENST00000559133.5:c.3625T>C
ENST00000561429.1:n.511T>C
NM_000138.4:c.8256T>C , LRG_778t1:c.8256T>C	NP_000129.3:p.Ser2752=
NM_000138.5:c.8256T>C MANE Select	NP_000129.3:p.Ser2752=