Canonical Allele Identifier: CA10646191

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316354
• ClinVar RCV Id: RCV000275580 ; RCV000305212 ; RCV000310625 ; RCV000340144 ; RCV000365337 ; RCV000399351 ; RCV000401289 ; RCV001653551
• dbSNP Id: rs1042078
• gnomAD v2: 15-48702873-G-A
• gnomAD v3: 15-48410676-G-A
• gnomAD v4: 15-48410676-G-A
• MyVariant Identifiers: chr15:g.48702873G>A (hg19) ; chr15:g.48410676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410676G>A , CM000677.2:g.48410676G>A	GRCh38
NC_000015.9:g.48702873G>A , CM000677.1:g.48702873G>A	GRCh37
NC_000015.8:g.46490165G>A	NCBI36
NG_008805.2:g.240113C>T , LRG_778:g.240113C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1738C>T	ENSP00000453958.2:n.*1738C>T
ENST00000682158.1:n.2311C>T
ENST00000682170.1:n.3111C>T
ENST00000682767.1:n.2227C>T
ENST00000316623.10:c.*314C>T MANE Select	ENSP00000325527.5:n.*314C>T
ENST00000316623.9:c.*314C>T	ENSP00000325527.5:n.*314C>T
ENST00000559133.5:c.4299C>T
NM_000138.4:c.*314C>T , LRG_778t1:c.*314C>T	NP_000129.3:n.*314C>T
NM_000138.5:c.*314C>T MANE Select	NP_000129.3:n.*314C>T