Canonical Allele Identifier: CA490118800

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3070487
• ClinVar RCV Id: RCV004012997
• dbSNP Id: rs2042856892
• gnomAD v4: 15-48411059-A-G
• MyVariant Identifiers: chr15:g.48703256A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411059A>G , CM000677.2:g.48411059A>G	GRCh38
NC_000015.9:g.48703256A>G , CM000677.1:g.48703256A>G	GRCh37
NC_000015.8:g.46490548A>G	NCBI36
NG_008805.2:g.239730T>C , LRG_778:g.239730T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1355T>C	ENSP00000453958.2:n.*1355T>C
ENST00000682158.1:n.1928T>C
ENST00000682170.1:n.2728T>C
ENST00000682767.1:n.1844T>C
ENST00000316623.10:c.8547T>C MANE Select	ENSP00000325527.5:p.Tyr2849=
ENST00000316623.9:c.8547T>C	ENSP00000325527.5:p.Tyr2849=
ENST00000559133.5:c.3916T>C
NM_000138.4:c.8547T>C , LRG_778t1:c.8547T>C	NP_000129.3:p.Tyr2849=
NM_000138.5:c.8547T>C MANE Select	NP_000129.3:p.Tyr2849=