Canonical Allele Identifier: CA490014449

Gene: FBN1

Linked Data

• gnomAD v4: 15-48412578-G-A
• MyVariant Identifiers: chr15:g.48704775G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412578G>A , CM000677.2:g.48412578G>A	GRCh38
NC_000015.9:g.48704775G>A , CM000677.1:g.48704775G>A	GRCh37
NC_000015.8:g.46492067G>A	NCBI36
NG_008805.2:g.238211C>T , LRG_778:g.238211C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1025C>T	ENSP00000453958.2:n.*1025C>T
ENST00000674301.2:c.*1730C>T	ENSP00000501333.2:n.*1730C>T
ENST00000682158.1:n.1598C>T
ENST00000682170.1:n.2398C>T
ENST00000682767.1:n.1514C>T
ENST00000316623.10:c.8217C>T MANE Select	ENSP00000325527.5:p.Ser2739=
ENST00000674301.1:c.3383C>T	ENSP00000501333.1:n.3383C>T
ENST00000316623.9:c.8217C>T	ENSP00000325527.5:p.Ser2739=
ENST00000559133.5:c.3586C>T
ENST00000561429.1:n.472C>T
NM_000138.4:c.8217C>T , LRG_778t1:c.8217C>T	NP_000129.3:p.Ser2739=
NM_000138.5:c.8217C>T MANE Select	NP_000129.3:p.Ser2739=