Canonical Allele Identifier: CA057495

Gene: FBN1

Linked Data

• ClinVar Variation Id: 377862
• ClinVar RCV Id: RCV000426936 ; RCV000726715 ; RCV001170302 ; RCV002061391 ; RCV003995959
• dbSNP Id: rs201226058
• ExAC: 15:48722887 A / G
• gnomAD v2: 15-48722887-A-G
• gnomAD v3: 15-48430690-A-G
• gnomAD v4: 15-48430690-A-G
• MyVariant Identifiers: chr15:g.48722887A>G (hg19) ; chr15:g.48430690A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430690A>G , CM000677.2:g.48430690A>G	GRCh38
NC_000015.9:g.48722887A>G , CM000677.1:g.48722887A>G	GRCh37
NC_000015.8:g.46510179A>G	NCBI36
NG_008805.2:g.220099T>C , LRG_778:g.220099T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6852T>C	ENSP00000453958.2:p.Pro2284=
ENST00000674301.2:c.*303T>C	ENSP00000501333.2:n.*303T>C
ENST00000682170.1:n.461T>C
ENST00000316623.10:c.6852T>C MANE Select	ENSP00000325527.5:p.Pro2284=
ENST00000674301.1:c.1956T>C	ENSP00000501333.1:n.1956T>C
ENST00000316623.9:c.6852T>C	ENSP00000325527.5:p.Pro2284=
ENST00000559133.5:c.2159T>C
ENST00000560720.1:n.139T>C
NM_000138.4:c.6852T>C , LRG_778t1:c.6852T>C	NP_000129.3:p.Pro2284=
NM_000138.5:c.6852T>C MANE Select	NP_000129.3:p.Pro2284=