Canonical Allele Identifier: CA017323

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36116
• ClinVar RCV Id: RCV000029778 ; RCV000484503 ; RCV001212859 ; RCV002313721 ; RCV004528138
• dbSNP Id: rs193922234
• MyVariant Identifiers: chr15:g.48713788A>C (hg19) ; chr15:g.48421591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421591A>C , CM000677.2:g.48421591A>C	GRCh38
NC_000015.9:g.48713788A>C , CM000677.1:g.48713788A>C	GRCh37
NC_000015.8:g.46501080A>C	NCBI36
NG_008805.2:g.229198T>G , LRG_778:g.229198T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*474T>G	ENSP00000453958.2:n.*474T>G
ENST00000674301.2:c.*1179T>G	ENSP00000501333.2:n.*1179T>G
ENST00000682170.1:n.1847T>G
ENST00000682767.1:n.963T>G
ENST00000316623.10:c.7666T>G MANE Select	ENSP00000325527.5:p.Phe2556Val
ENST00000674301.1:c.2832T>G	ENSP00000501333.1:n.2832T>G
ENST00000316623.9:c.7666T>G	ENSP00000325527.5:p.Phe2556Val
ENST00000559133.5:c.3035T>G
NM_000138.4:c.7666T>G , LRG_778t1:c.7666T>G	NP_000129.3:p.Phe2556Val
NM_000138.5:c.7666T>G MANE Select	NP_000129.3:p.Phe2556Val