Canonical Allele Identifier: CA490019184

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1553772
• ClinVar RCV Id: RCV002199468
• dbSNP Id: rs2141295290
• gnomAD v4: 15-48488465-G-A
• MyVariant Identifiers: chr15:g.48780662G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488465G>A , CM000677.2:g.48488465G>A	GRCh38
NC_000015.9:g.48780662G>A , CM000677.1:g.48780662G>A	GRCh37
NC_000015.8:g.46567954G>A	NCBI36
NG_008805.2:g.162324C>T , LRG_778:g.162324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3111C>T	ENSP00000453958.2:p.Ser1037=
ENST00000674301.2:c.3111C>T	ENSP00000501333.2:p.Ser1037=
ENST00000684448.1:n.1785C>T
ENST00000316623.10:c.3111C>T MANE Select	ENSP00000325527.5:p.Ser1037=
ENST00000316623.9:c.3111C>T	ENSP00000325527.5:p.Ser1037=
ENST00000537463.6:c.637-13815C>T	ENSP00000440294.2:n.637-13815C>T
NM_000138.4:c.3111C>T , LRG_778t1:c.3111C>T	NP_000129.3:p.Ser1037=
NM_000138.5:c.3111C>T MANE Select	NP_000129.3:p.Ser1037=