Canonical Allele Identifier: CA392326285

Gene: FBN1

Linked Data

• ClinVar Variation Id: 427047
• ClinVar RCV Id: RCV000490210 ; RCV001729616
• dbSNP Id: rs1085307921
• MyVariant Identifiers: chr15:g.48714265T>C (hg19) ; chr15:g.48422068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422068T>C , CM000677.2:g.48422068T>C	GRCh38
NC_000015.9:g.48714265T>C , CM000677.1:g.48714265T>C	GRCh37
NC_000015.8:g.46501557T>C	NCBI36
NG_008805.2:g.228721A>G , LRG_778:g.228721A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262A>G	ENSP00000453958.2:n.*262A>G
ENST00000674301.2:c.*967A>G	ENSP00000501333.2:n.*967A>G
ENST00000682170.1:n.1635A>G
ENST00000682767.1:n.751A>G
ENST00000316623.10:c.7454A>G MANE Select	ENSP00000325527.5:p.Asp2485Gly
ENST00000674301.1:c.2620A>G	ENSP00000501333.1:n.2620A>G
ENST00000316623.9:c.7454A>G	ENSP00000325527.5:p.Asp2485Gly
ENST00000559133.5:c.2823A>G
NM_000138.4:c.7454A>G , LRG_778t1:c.7454A>G	NP_000129.3:p.Asp2485Gly
NM_000138.5:c.7454A>G MANE Select	NP_000129.3:p.Asp2485Gly