Canonical Allele Identifier: CA013464

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36059
• ClinVar RCV Id: RCV000029719 ; RCV003764640 ; RCV003528138 ; RCV004532411
• dbSNP Id: rs193922195
• gnomAD v2: 15-48782283-A-G
• gnomAD v4: 15-48490086-A-G
• MyVariant Identifiers: chr15:g.48782283A>G (hg19) ; chr15:g.48490086A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490086A>G , CM000677.2:g.48490086A>G	GRCh38
NC_000015.9:g.48782283A>G , CM000677.1:g.48782283A>G	GRCh37
NC_000015.8:g.46569575A>G	NCBI36
NG_008805.2:g.160703T>C , LRG_778:g.160703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2855-8T>C	ENSP00000453958.2:n.2855-8T>C
ENST00000674301.2:c.2855-8T>C	ENSP00000501333.2:n.2855-8T>C
ENST00000684448.1:n.1529-8T>C
ENST00000316623.10:c.2855-8T>C MANE Select	ENSP00000325527.5:n.2855-8T>C
ENST00000316623.9:c.2855-8T>C	ENSP00000325527.5:n.2855-8T>C
ENST00000537463.6:c.637-15436T>C	ENSP00000440294.2:n.637-15436T>C
NM_000138.4:c.2855-8T>C , LRG_778t1:c.2855-8T>C	NP_000129.3:n.2855-8T>C
NM_000138.5:c.2855-8T>C MANE Select	NP_000129.3:n.2855-8T>C