Canonical Allele Identifier: CA490022999

Gene: FBN1

Linked Data

• dbSNP Id: rs397515826
• MyVariant Identifiers: chr15:g.48738970G>A (hg19) ; chr15:g.48446773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446773G>A , CM000677.2:g.48446773G>A	GRCh38
NC_000015.9:g.48738970G>A , CM000677.1:g.48738970G>A	GRCh37
NC_000015.8:g.46526262G>A	NCBI36
NG_008805.2:g.204016C>T , LRG_778:g.204016C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5721C>T	ENSP00000453958.2:p.Asn1907=
ENST00000674301.2:c.5721C>T	ENSP00000501333.2:p.Asn1907=
ENST00000684448.1:n.4395C>T
ENST00000316623.10:c.5721C>T MANE Select	ENSP00000325527.5:p.Asn1907=
ENST00000674301.1:c.720C>T	ENSP00000501333.1:p.Asn240=
ENST00000316623.9:c.5721C>T	ENSP00000325527.5:p.Asn1907=
ENST00000537463.6:c.*1484C>T	ENSP00000440294.2:n.*1484C>T
ENST00000559133.5:c.1028C>T
NM_000138.4:c.5721C>T , LRG_778t1:c.5721C>T	NP_000129.3:p.Asn1907=
NM_000138.5:c.5721C>T MANE Select	NP_000129.3:p.Asn1907=