Canonical Allele Identifier: CA392319373

Gene: FBN1

Linked Data

• ClinVar Variation Id: 927358
• ClinVar RCV Id: RCV001190582 ; RCV004010443
• dbSNP Id: rs2042859991
• gnomAD v4: 15-48411241-T-G
• MyVariant Identifiers: chr15:g.48703438T>G (hg19) ; chr15:g.48411241T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411241T>G , CM000677.2:g.48411241T>G	GRCh38
NC_000015.9:g.48703438T>G , CM000677.1:g.48703438T>G	GRCh37
NC_000015.8:g.46490730T>G	NCBI36
NG_008805.2:g.239548A>C , LRG_778:g.239548A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1173A>C	ENSP00000453958.2:n.*1173A>C
ENST00000674301.2:c.*1878A>C	ENSP00000501333.2:n.*1878A>C
ENST00000682158.1:n.1746A>C
ENST00000682170.1:n.2546A>C
ENST00000682767.1:n.1662A>C
ENST00000316623.10:c.8365A>C MANE Select	ENSP00000325527.5:p.Asn2789His
ENST00000674301.1:c.3531A>C	ENSP00000501333.1:n.3531A>C
ENST00000316623.9:c.8365A>C	ENSP00000325527.5:p.Asn2789His
ENST00000559133.5:c.3734A>C
ENST00000561429.1:n.620A>C
NM_000138.4:c.8365A>C , LRG_778t1:c.8365A>C	NP_000129.3:p.Asn2789His
NM_000138.5:c.8365A>C MANE Select	NP_000129.3:p.Asn2789His