Canonical Allele Identifier: CA059470

Gene: FBN1

Linked Data

• ClinVar Variation Id: 418202
• ClinVar RCV Id: RCV000483455 ; RCV000765218 ; RCV000697974 ; RCV001180112 ; RCV004002242
• dbSNP Id: rs146469379
• ExAC: 15:48707757 G / A
• gnomAD v2: 15-48707757-G-A
• gnomAD v3: 15-48415560-G-A
• gnomAD v4: 15-48415560-G-A
• MyVariant Identifiers: chr15:g.48707757G>A (hg19) ; chr15:g.48415560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415560G>A , CM000677.2:g.48415560G>A	GRCh38
NC_000015.9:g.48707757G>A , CM000677.1:g.48707757G>A	GRCh37
NC_000015.8:g.46495049G>A	NCBI36
NG_008805.2:g.235229C>T , LRG_778:g.235229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*835C>T	ENSP00000453958.2:n.*835C>T
ENST00000674301.2:c.*1540C>T	ENSP00000501333.2:n.*1540C>T
ENST00000682158.1:n.1408C>T
ENST00000682170.1:n.2208C>T
ENST00000682767.1:n.1324C>T
ENST00000316623.10:c.8027C>T MANE Select	ENSP00000325527.5:p.Pro2676Leu
ENST00000674301.1:c.3193C>T	ENSP00000501333.1:n.3193C>T
ENST00000316623.9:c.8027C>T	ENSP00000325527.5:p.Pro2676Leu
ENST00000559133.5:c.3396C>T
ENST00000561429.1:n.282C>T
NM_000138.4:c.8027C>T , LRG_778t1:c.8027C>T	NP_000129.3:p.Pro2676Leu
NM_000138.5:c.8027C>T MANE Select	NP_000129.3:p.Pro2676Leu