Canonical Allele Identifier: CA017529

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200127
• ClinVar RCV Id: RCV000181625 ; RCV000476927 ; RCV000659584 ; RCV000770651 ; RCV003987427
• dbSNP Id: rs794728283
• gnomAD v4: 15-48415549-G-A
• MyVariant Identifiers: chr15:g.48707746G>A (hg19) ; chr15:g.48415549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415549G>A , CM000677.2:g.48415549G>A	GRCh38
NC_000015.9:g.48707746G>A , CM000677.1:g.48707746G>A	GRCh37
NC_000015.8:g.46495038G>A	NCBI36
NG_008805.2:g.235240C>T , LRG_778:g.235240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*846C>T	ENSP00000453958.2:n.*846C>T
ENST00000674301.2:c.*1551C>T	ENSP00000501333.2:n.*1551C>T
ENST00000682158.1:n.1419C>T
ENST00000682170.1:n.2219C>T
ENST00000682767.1:n.1335C>T
ENST00000316623.10:c.8038C>T MANE Select	ENSP00000325527.5:p.Arg2680Cys
ENST00000674301.1:c.3204C>T	ENSP00000501333.1:n.3204C>T
ENST00000316623.9:c.8038C>T	ENSP00000325527.5:p.Arg2680Cys
ENST00000559133.5:c.3407C>T
ENST00000561429.1:n.293C>T
NM_000138.4:c.8038C>T , LRG_778t1:c.8038C>T	NP_000129.3:p.Arg2680Cys
NM_000138.5:c.8038C>T MANE Select	NP_000129.3:p.Arg2680Cys