Canonical Allele Identifier: CA490014438

Gene: FBN1

Linked Data

• dbSNP Id: rs1597507598
• gnomAD v3: 15-48412575-A-G
• gnomAD v4: 15-48412575-A-G
• MyVariant Identifiers: chr15:g.48704772A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412575A>G , CM000677.2:g.48412575A>G	GRCh38
NC_000015.9:g.48704772A>G , CM000677.1:g.48704772A>G	GRCh37
NC_000015.8:g.46492064A>G	NCBI36
NG_008805.2:g.238214T>C , LRG_778:g.238214T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1028T>C	ENSP00000453958.2:n.*1028T>C
ENST00000674301.2:c.*1733T>C	ENSP00000501333.2:n.*1733T>C
ENST00000682158.1:n.1601T>C
ENST00000682170.1:n.2401T>C
ENST00000682767.1:n.1517T>C
ENST00000316623.10:c.8220T>C MANE Select	ENSP00000325527.5:p.Asn2740=
ENST00000674301.1:c.3386T>C	ENSP00000501333.1:n.3386T>C
ENST00000316623.9:c.8220T>C	ENSP00000325527.5:p.Asn2740=
ENST00000559133.5:c.3589T>C
ENST00000561429.1:n.475T>C
NM_000138.4:c.8220T>C , LRG_778t1:c.8220T>C	NP_000129.3:p.Asn2740=
NM_000138.5:c.8220T>C MANE Select	NP_000129.3:p.Asn2740=